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PTC Therapeutics

ptct · NASDAQ Healthcare
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FY2023 Annual Report · PTC Therapeutics
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TRANSLATING SCIENCE

Transforming Lives

2023 ANNUAL REPORT

Introduction

PTC is a global biopharmaceutical 
company focused on the discovery, 
development and commercialization 
of clinically differentiated medicines 
that provide benefits to patients 
with rare disorders. PTC’s ability to 
innovate to identify new therapies and 
to globally commercialize products is 
the foundation that drives investment 
in a robust and diversified pipeline 
of transformative medicines. 

PTC’s goal is to provide access to 
best-in-class treatments for patients 
who have little to no treatment options. 
PTC’s strategy is to leverage its strong 
scientific and clinical expertise and 
global commercial infrastructure 
to bring therapies to patients. We 
believe this allows us to maximize 
value for all our stakeholders.

Our Science

Our research efforts are focused on two scientific platforms—splicing and ferroptosis and 
inflammation — where PTC has unique expertise to discover and advance innovative therapies 
to the clinic. We have a robust development portfolio with a number of potentially promising 
therapies for rare neurologic and metabolic diseases including PKU, HD and ALS.

Our Commitment

We are deeply committed to children and adults living with rare diseases who have little 
to no treatment options. We work hard to provide resources and support to patients and 
their families throughout their rare disorder journey through compassionate collaboration, 
throughout the drug development process. We strive to ensure we deeply understand a 
patient’s disease journey and involve them every step of the way – from early research and 
development to clinical trials, to commercialization and support programs.

Our People

Our deep passion for patients drives us to think differently about solutions and to work 
collaboratively as OnePTC. We are grounded by our PTC Expectations, which guide the  
core values, work principles and behaviors that define the culture and bring the idea of a 
“OnePTC” team to life. Our culture at PTC reflects this mission. We endeavor to ensure that  
our employees can bring their “whole authentic self” to work and strive to make a difference  
in the communities where we live and work. 

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A message to 
our shareholders

2023 was a transformative year for PTC. As the company celebrated its 25th anniversary, it was a perfect time to 
reflect on PTC’s many pioneering and impactful contributions—including pioneering ribonucleic acid (RNA) directed 
therapies, establishing the field of drug development for Duchenne muscular dystrophy, discovering and developing 
the first ever small molecule splicing agent, Evrysdi® (risdiplam), which is now the global leading spinal muscular 
atrophy (SMA) therapy, and successfully developing the first ever brain-administered gene therapy.

However, it was also a time to make important changes—so that we could mature into a leaner, stronger and well-
capitalized PTC positioned for future success. We made a number of significant changes to our leadership team, our 
R&D strategy and capital structure, giving us a strong foundation for the future.

In building the PTC of the future, we emphasized focus. We focused our R&D portfolio on small molecule drug 
development and on core therapeutic areas. Our research platforms now focus on scientific areas where PTC has 
unique expertise—splicing and ferroptosis— to discover and develop innovative and impactful therapies. 

There were a number of important successes in 2023. We achieved full-year revenue of $938 million, representing a 
34% year-over-year growth. Our revenue performance reflects the continued outstanding performance of our global 
customer-facing teams and our successful efforts in geographic expansion for several of our products.

We continue to see transformative results with Upstaza™ (eladocagene exuparvovec), the first approved disease-
modifying treatment for the treatment of aromatic L-amino acid decarboxylase (AADC) deficiency for patients 18 
months and older, and the first marketed gene therapy directly infused into the brain. Our rollout across Europe 
continues to progress with new patients treated. Globally, patient identification, treatment center readiness and 
access and reimbursement discussions continue to advance.

For the Duchenne muscular dystrophy franchise, consisting of Translarna™ (ataluren) and Emflaza® (deflazacort), 
we saw a strong full-year performance of $611 million. For Translarna, we achieved annual sales of $356 million. We 
continue to expand our Translarna global footprint, bringing the only therapy for nonsense mutation Duchenne to new 
patients in seven new countries last year as we continue to expand geographically around the world. Net revenues for 
Emflaza totaled $255 million, which represents an impressive 17% growth year-over-year. Our U.S. team continues 
to engage with healthcare providers by providing meaningful clinical data differentiation compared to prednisone 
and have implemented other strategies to ensure Emflaza brand loyalty for new and existing patients. We continue to 
support Duchenne patients and their caregivers with outstanding service from our PTC CaresTM team, by enhancing 
customer experience, providing easier access to treatment, facilitating copay assistance and improving adherence 
for patients in the United States. 

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In Latin America, we achieved strong growth for both Waylivra® (volanesorsen) and Tegsedi® (inotersen) , more than 
doubling our revenue in the region. Patient identification is robust and the number of patients on treatment continues 
to grow across the region, including first-time sales in new countries. 

We are also pleased by the progress we made on our diverse pipeline portfolio, and look forward to a number 
of potential significant milestones in 2024. We look forward to initiating the global regulatory submissions for 
sepiapterin, our differentiated therapy for children and adults with phenylketonuria (PKU). We submitted the marketing 
authorization application (MAA) for sepiapterin to the European Medicines Agency (EMA) in the first quarter of this 
year, and plan to submit the New Drug Application (NDA) in the U.S. no later than the third quarter of this year. We 
continue to collect data from the open-label extension study following APHENITY. We continue to see durability of 
sepiapterin treatment effect and the ability of patients on sepiapterin to increase their dietary protein intake beyond 
the recommended daily allowance while still maintaining control of phenylalanine levels. This is incredibly meaningful 
to patients and further supports the potential of sepiapterin to fill the persistent unmet medical need of the majority of 
the 58,000 PKU patients worldwide.

Based on discussions with the U.S. Food and Drug Administration (FDA), 
we expect to submit an NDA for vatiquinone for Friedreich ataxia (FA) in 
late 2024. This NDA will be based on the placebo-controlled results of 
the MOVE-FA study in combination with the long-term open label data 
from that trial. We are very excited about the potential of vatiquinone to 
fill the significant remaining unmet need for pediatric and adolescent FA 
patients. In addition, we plan to resubmit an NDA for Translarna to the  
FDA in mid-2024.

We expect to share interim 12-month results from PIVOT-HD in the 
second quarter of 2024 from the initial cohort of subjects on whom 
we reported data last summer. PTC518 is one of the leading, if not 
the leading, therapy in development for patients with Huntington’s 
disease (HD). Leveraging the expertise of the PTC splicing platform, 
PTC518 follows on the heels of the successful discovery and 
development of Evrysdi. The 12-month results will include additional 
safety and tolerability data as well as biomarker data, including CSF 
Huntingtin protein levels, NfL levels in the blood and in the brain, as 
well as volumetric changes on MRI. We will also be sharing data from 
some of the clinical outcome measures collected as part of the study. 

We also expect to share top-line results from the CARDINALS 
registration-directed trial of utreloxastat in amyotrophic lateral 
sclerosis (ALS) patients in the fourth quarter of 2024.  

 Our successful and 

transformative year 

was made possible by 

the deep passion for 

patients that drives 

us to think differently 

about solutions and to 

work collaboratively 

as OnePTC.

Utreloxastat targets 15-lipoxygenase and the ferroptosis pathway. There is now an extensive volume of evidence 
confirming the key link between the ferroptosis pathway and adult neurodegenerative disease, including ALS. There 
is evidence that targeting ferroptosis can result in functional and survival benefit in preclinical and clinical studies. 
Utreloxastat is the first clinical compound being developed for ALS with specific target-based ferroptosis activity.

Our successful and transformative year was made possible by our commitment to children and adults living with rare 
diseases. For us, changing the course of rare diseases isn’t a job, it is our purpose, and our culture at PTC reflects  
this mission.  

We especially value the importance of community and belonging in today’s hybrid workforce and seek to foster and 
encourage open discussions across geographies and departments. This open dynamic allows us to learn from one 
another and pushes us toward making lasting and impactful change for patients and our communities.

At PTC, we invest in people and dedicate resources to development and learning, ensuring our employees are 

supported and empowered in their careers. We strive to grow a pool of diverse leaders and focus on continued 
leadership development. We offer several resources to support our employees’ well-being, learning and 

career development while providing growth opportunities. Our ED&I program seeks to deliver 

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on several guiding pillars: cultural awareness, talent pipeline, community outreach and working as OnePTC, all with 
the goal of making a difference in the lives of our employees and the lives of our patients. We believe in creating an 
environment where all people can have a sense of belonging while performing at their absolute best. We continue to 
take our obligations related to environmental stewardship, social responsibility and corporate governance seriously, 
and focus on five key pillars: our patients, our people, our community, our environment and our values. 

While 2023 saw a lot of changes, one thing that hasn’t changed is our mission. We remain a patient-focused company 
that will continue a legacy of discovering, developing and commercializing transformative therapies for patients with 
rare diseases. We will now pursue this mission in a more efficient, thoughtful and effective manner as we continue to 
build the PTC of the future. 

I am proud of the team and thankful for the support and dedication of our incredible community of advocates, 
patients, partners and employees. I’m enthusiastic about the future and executing on the many impactful 
opportunities that lie ahead in 2024.

Sincerely,

Matthew B. Klein, M.D., M.S., FACS
Chief Executive Officer

Strong Commercial Performance 
and Growth in 2023

Development

Sepiapterin (PKU)

Phase 1

Total Revenue 

Phase 2

Phase 3

NDA Stage

Vatiquinone (FA)

2023

$938M

Phase 2

Phase 1

Phase 3

NDA Stage

Utreloxastat (ALS)

Phase 1

PTC518 (HD)

Phase 1

Phase 2

Phase 2

DMD Franchise Net Product Revenue 

Undisclosed (Myopathies)

Phase 1

 $611M

Research

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Splicing Platform

Ferroptosis and Inflammation Platform

SCA-3

MAP-tau

Undisclosed

(Movement Disorders)

Undisclosed

(Neurodegenerative Diseases)

Undisclosed

(Pediatric Neurodevelopment Disorders)

Our Products and Pipeline Strategy

Our products and pipeline strategy leverages our innovative scientific knowledge, our deep therapeutic  
expertise and robust global commercial infrastructure. 

Development

Sepiapterin (PKU)

Phase 1

Phase 2

Phase 3

NDA Stage

Development

Vatiquinone (FA)

Development

Sepiapterin (PKU)
Utreloxastat (ALS)

Phase 1

Phase 1
Phase 1

Vatiquinone (FA)
Sepiapterin (PKU)
PTC518 (HD)

Phase 1
Phase 1
Phase 1

Phase 2

Phase 3

NDA Stage

Phase 2
Phase 2

Phase 2
Phase 2
Phase 2

Phase 3

NDA Stage

Phase 3
Phase 3

NDA Stage
NDA Stage

Utreloxastat (ALS)
Vatiquinone (FA)
Undisclosed (Myopathies)

Phase 1
Phase 1
Phase 1

Phase 2
Phase 2

Phase 3

NDA Stage

PTC518 (HD)
Utreloxastat (ALS)

Phase 1
Phase 1

Phase 2
Phase 2

Research
Undisclosed (Myopathies)
PTC518 (HD)

Phase 1
Phase 1

Phase 2

Undisclosed (Myopathies)

Splicing Platform

Phase 1

Ferroptosis and Inflammation Platform

Research

SCA-3

MAP-tau

Research

Splicing Platform

Undisclosed
(Movement Disorders)
SCA-3
Splicing Platform

MAP-tau
SCA-3
Undisclosed
(Movement Disorders)
MAP-tau

Undisclosed
(Movement Disorders)

Undisclosed
(Neurodegenerative Diseases)

Ferroptosis and Inflammation Platform

Undisclosed
(Pediatric Neurodevelopment Disorders)

Ferroptosis and Inflammation Platform

Undisclosed
(Neurodegenerative Diseases)

Undisclosed
Undisclosed
(Pediatric Neurodevelopment Disorders)
(Neurodegenerative Diseases)

Undisclosed
(Pediatric Neurodevelopment Disorders)

PKU, phenylketonuria; FA, Friedreich ataxia; ALS, amyotrophic lateral sclerosis; HD, Huntington‘s disease; SCA-3, spinocerebellar 
ataxia type 3;  MAP-tau, microtubule associated protein tau.

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Strong R&D Execution 
and Value Creation in 2023

In 2023, PTC had a number of important clinical and regulatory achievements. We made significant progress on our 
development programs with multiple strong data readouts positioning us for an exciting 2024, with many programs 
moving closer to potential registration. In addition, we expanded the geographic footprint for several of our 
commercial therapies with a number of regulatory approvals that continue to support robust growth.

Clinical

Highly statistically 
significant 
and meaningful 
APHENITY results

Positive interim data 
for PIVOT-HD 

Positive upright 
stability and fatigue 
scale results 
for MOVE-FA*

Regulatory

Additional approvals 
enabling continued 
geographic 
expansion

Additional LATAM 
approvals enabling 
geographic 
expansion

Additional LATAM 
approvals enabling 
geographic 
expansion

 *Primary endpoint did not meet statistical significance

7

UNITED STATES 
SECURITIES AND EXCHANGE COMMISSION 
Washington, D.C. 20549 

FORM 10-K 

(Mark One) 
 

ANNUAL REPORT PURSUANT TO SECTION 13 OR 15(d) OF THE SECURITIES EXCHANGE ACT OF 1934 

For the fiscal year ended: December 31, 2023 

or 

☐ 

TRANSITION REPORT PURSUANT TO SECTION 13 OR 15(d) OF THE SECURITIES EXCHANGE ACT OF 1934 

Commission file number: 001-35969 

PTC THERAPEUTICS, INC. 
(Exact name of registrant as specified in its charter) 

Delaware 
(State or other jurisdiction of incorporation or organization) 

04-3416587 
(I.R.S. Employer Identification No.) 

100 Corporate Court 
South Plainfield, NJ 
(Address of principal executive offices) 

07080 
(Zip Code) 

(908) 222-7000 

(Registrant’s telephone number, including area code) 

Securities registered pursuant to Section 12(b) of the Act: 

Title of each class 
Common Stock, $0.001 par value per share 

Trading Symbol (s) 
PTCT 

Name of each exchange on which registered 
Nasdaq Global Select Market 

Securities registered pursuant to Section 12(g) of the Act: None 

Indicate by check mark if the registrant is a well-known seasoned issuer, as defined in Rule 405 of the Securities Act. Yes     No ☐ 

Indicate by check mark if the registrant is not required to file reports pursuant to Section 13 or Section 15(d) of the Act. Yes ☐    No  

Indicate by check mark whether the registrant (1) has filed all reports required to be filed by Section 13 or 15(d) of the Securities Exchange Act of 1934 during the 
preceding 12 months (or for such shorter period that the registrant was required to file such reports), and (2) has been subject to such filing requirements for the past 90 days. 
Yes     No ☐ 

Indicate by check mark whether the registrant has submitted electronically every Interactive Data File required to be submitted and posted pursuant to Rule 405 of 

Regulation S-T (§232.405 of this chapter) during the preceding 12 months (or for such shorter period that the registrant was required to submit such files). Yes     No ☐ 

Indicate by check mark whether the registrant is a large accelerated filer, an accelerated filer, a non-accelerated filer, a smaller reporting company, or an emerging 

growth company. See the definitions of “large accelerated filer,” “accelerated filer,” “smaller reporting company,” and “emerging growth company” in Rule 12b-2 of the 
Exchange Act. 

Large accelerated filer 

Non-accelerated filer 

 

☐ 

Accelerated filer 

Smaller reporting company 

Emerging growth company 

☐ 

☐ 

☐ 

If an emerging growth company, indicate by check mark if the registrant has elected not to use the extended transition period for complying with any new or revised 

financial accounting standards provided pursuant to Section 13(a) of the Exchange Act. ☐ 

Indicate by check mark whether the registrant has filed a report on and attestation to its management’s assessment of the effectiveness of its internal control over 

financial reporting under Section 404(b) of the Sarbanes-Oxley Act (15 U.S.C. 7262(b)) by the registered public accounting firm that prepared or issued its audit report.     

Indicate by check mark whether the registrant is a shell company (as defined in Rule 12b-2 of the Exchange Act). Yes ☐    No  

If securities are registered pursuant to Section 12(b) of the Act, indicate by check mark whether the financial statements of the registrant included in the filing 

reflect the correction of an error to previously issued financial statements.  □ 

Indicate by check mark whether any of those error corrections are restatements that required a recovery analysis of incentive-based compensation received by any of 

the registrant’s executive officers during the relevant recovery period pursuant to § 240.10D-1(b).  □ 

The aggregate market value of the Common Stock held by non-affiliates of the registrant, based upon the last sale price of the Common Stock reported on the 

Nasdaq Global Select Market on June 30, 2023, the last business day of the registrant’s most recently completed second fiscal quarter, was $2,330,616,515. For purposes of 
this calculation, shares of Common Stock held by directors and officers have been treated as shares held by affiliates. 

As of February 27, 2024, the registrant had 76,608,030 shares of Common Stock, $0.001 par value per share, outstanding. 

DOCUMENTS INCORPORATED BY REFERENCE 

Part III of this Annual Report incorporates by reference information from the definitive Proxy Statement for the registrant’s 2024 Annual Meeting of Shareholders 

which is expected to be filed with the Securities and Exchange Commission not later than 120 days after the registrant’s fiscal year ended December 31, 2023. 

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
     
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
     
     
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
TABLE OF CONTENTS 
PTC Therapeutics, Inc. 

PART I 
Item 1. Business 
Item 1A. Risk Factors 
Item 1B. Unresolved Staff Comments 
Item 1C. Cybersecurity 
Item 2. Properties 
Item 3. Legal Proceedings 
Item 4. Mine Safety Disclosures 
PART II 
Item 5. Market for Registrant’s Common Equity, Related Stockholder Matters and Issuers Purchases of 
Equity Securities 
Item 6. [Reserved] 
Item 7. Management’s Discussion and Analysis of Financial Condition and Results of Operations 
Item 7A. Quantitative and Qualitative Disclosures about Market Risk 
Item 8. Financial Statements and Supplementary Data 
Item 9. Changes in and Disagreements with Accountants on Accounting and Financial Disclosure 
Item 9A. Controls and Procedures 
Item 9B. Other Information 
Item 9C. Disclosures Regarding Foreign Jurisdictions that Prevent Inspections 
PART III 
Item 10. Directors, Executive Officers and Corporate Governance 
Item 11. Executive Compensation 
Item 12. Security Ownership of Certain Beneficial Owners and Management and Related Stockholder Matters 
Item 13. Certain Relationships and Related Transactions, and Director Independence 
Item 14. Principal Accountant Fees and Services 
PART IV 
Item 15. Exhibits and Financial Statement Schedules 
Item 16. Form 10-K Summary 
SIGNATURES 

Page No. 

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112
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FORWARD-LOOKING STATEMENTS 

This  Annual  Report  on  Form  10-K  contains  forward-looking  statements  that  involve  substantial  risks  and 
uncertainties. All statements, other  than statements of historical facts, contained in this  Annual Report on  Form 10-K, 
including statements regarding our strategy, future operations, future financial position, future revenues, projected costs, 
prospects,  plans  and  objectives  of  management,  are  forward-looking  statements.  The  words  “anticipate,”  “believe,” 
“estimate,”  “expect,”  “intend,”  “may,”  “might,”  “plan,”  “predict,”  “project,”  “target,”  “potential,”  “will,”  “would,” 
“could,” “should,” “continue,” and similar expressions are intended to identify forward-looking statements, although not 
all forward-looking statements contain these identifying words. 

The forward-looking statements in this Annual Report on Form 10-K include, among other things, statements about: 

• 

• 

• 

• 

• 

• 

• 

• 

• 

• 

our ability to negotiate, secure and maintain adequate pricing, coverage and reimbursement terms and processes 
on a timely basis, or at all, with third-party payors for our products or product candidates that we commercialize 
or may commercialize in the future; 

our expectations with respect to the European Commission’s potential adoption of the Committee for Medicinal 
Products  for  Human  Use’s  negative  opinion  for  the  renewal  of  the  conditional  marketing  authorization  for 
TranslarnaTM (ataluren) for the treatment of nonsense mutation Duchenne muscular dystrophy, or nmDMD, in 
the European Economic Area, or EEA, following a re-examination procedure and our ability to maintain such 
conditional marketing authorization or identify other potential mechanisms in which we may provide Translarna 
to nmDMD patients in the EEA; 

our ability to maintain our marketing authorizations in other jurisdictions in which Translarna has been approved; 

our ability to utilize results from Study 041 and from our international drug registry study to support a marketing 
approval for Translarna for the treatment of nmDMD in the United States; 

expectations with respect to our ability to commercialize UpstazaTM (eladocagene exuparvovec) for the treatment 
of  Aromatic  L-Amino  Acid  Decarboxylase,  or  AADC  deficiency,  in  the  EEA,  any  potential  regulatory 
submissions and potential approvals for our product candidates, our manufacturing capabilities and the potential 
financial  impact  and  benefits  of  our  leased  biologics  manufacturing  facility  and  the  potential  achievement  of 
development, regulatory and sales milestones and contingent payments that we may be obligated to make; 

our expectations with respect to the commercial status of Evrysdi® (risdiplam) and our program directed against 
spinal muscular atrophy in collaboration with F. Hoffmann La Roche Ltd and Hoffmann La Roche Inc. and the 
Spinal  Muscular  Atrophy  Foundation  and  our  estimates  regarding  future  revenues  from  sales-based  royalty 
payments or the achievement of milestones in that program; 

our  expectations  and  the  potential  financial  impact  and  benefits  related  to  our  Collaboration  and  License 
Agreement with a subsidiary of Ionis Pharmaceuticals, Inc. including with respect to the timing of regulatory 
approval  of  Tegsedi® (inotersen)  and  WaylivraTM (volanesorsen)  in  countries  in  which  we  are  licensed  to 
commercialize them, the commercialization of Tegsedi and Waylivra, and our expectations with respect to royalty 
payments by us based on our potential achievement of certain net sales thresholds; 

the timing and scope of our commercialization of our products and product candidates; 

our estimates regarding the potential market opportunity for our products or product candidates, including the 
size of eligible patient populations and our ability to identify such patients; 

our ability to obtain additional and maintain existing reimbursed named patient and cohort early access programs 
for our products on adequate terms, or at all; 

1 

• 

• 

• 

• 

• 

• 

• 

• 

• 

• 

• 

• 

• 

• 

• 

• 

• 

our estimates regarding expenses, future revenues, third-party discounts and rebates, capital requirements and 
needs for additional financing, including our ability to maintain the level of our expenses consistent with our 
internal budgets and forecasts and to secure additional funds on favorable terms or at all; 

the timing and conduct of our ongoing, planned and potential future clinical trials and studies for sepiapterin and 
our  splicing  and  ferroptosis  and  inflammation  programs  as  well  as  studies  in  our  products  for  maintaining 
authorizations,  label  extensions  and  additional  indications,  including  the  timing  of  initiation,  enrollment  and 
completion of the trials and the period during which the results of the trials will become available; 

our  ability  to  realize  the  anticipated  benefits  of  our  acquisitions  or  other  strategic  transactions,  including  the 
possibility that the expected impact of benefits from the acquisitions or strategic transactions will not be realized 
or will not be realized within the expected time period, significant transaction costs, the integration of operations 
and employees into our business, our ability to obtain marketing approval of our product candidates we acquired 
from the acquisitions or other strategic transactions and unknown liabilities; 

the rate and degree of market acceptance and clinical utility of any of our products or product candidates; 

the ability and willingness of patients and healthcare professionals to access our products and product candidates 
through  alternative  means  if  pricing  and reimbursement negotiations  in the  applicable territory do not  have  a 
positive outcome; 

the  timing  of,  and  our  ability  to  obtain  additional  marketing  authorizations  for  our  products  and  product 
candidates; 

the ability of our products and our product candidates to meet existing or future regulatory standards; 

the potential receipt of revenues from future sales of our products or product candidates; 

the expected impact of our loss of market exclusivity for Emflaza® (deflazacort) for the treatment of Duchenne 
muscular dystrophy in the United States under the Orphan Drug Act of 1983; 

our  sales,  marketing  and  distribution  capabilities  and  strategy,  including  the  ability  of  our  third-party 
manufacturers to manufacture and deliver our products and product candidates in clinically and commercially 
sufficient quantities and the ability of distributors to process orders in a timely manner and satisfy their other 
obligations to us; 

our ability to establish and maintain arrangements for the manufacture of our products and product candidates 
that are sufficient to meet clinical trial and commercial launch requirements; 

the extent, timing and financial aspects of our strategic pipeline prioritization and reductions in workforce; 

our  ability  to  complete  any  post-marketing  requirements  imposed  by  regulatory  agencies  with  respect  to  our 
products; 

our expectations with respect to the potential financial impact and benefits of our leased biologics manufacturing 
facility and our ability to satisfy our obligations under the terms of the lease agreement for such facility; 

our  ability  to  satisfy  our  obligations  under  the  indenture  governing  our  1.50%  convertible  senior  notes  due 
September 15, 2026; 

our regulatory submissions, including with respect to timing and outcome of regulatory review; 

our plans to advance our earlier stage programs and pursue research and development of other product candidates, 
including our splicing and ferroptosis and inflammation programs; 

2 

•  whether we may pursue business development opportunities, including potential collaborations, alliances, and 
acquisition or licensing of assets and our ability to successfully develop or commercialize any assets to which we 
may gain rights pursuant to such business development opportunities; 

• 

• 

• 

• 

• 

the potential advantages of our products and any product candidate; 

our intellectual property position; 

the impact of government laws and regulations; 

the impact of litigation that has been or may be brought against us or of litigation that we are pursuing against 
others; and 

our competitive position. 

We may not actually achieve the plans, intentions or expectations disclosed in our forward-looking statements, and 
you should not place undue reliance on our forward-looking statements. Actual results or events could differ materially 
from  the  plans,  intentions  and  expectations  disclosed  in  the  forward-looking  statements  we  make.  We  have  included 
important factors in the cautionary statements included in this Annual Report on Form 10-K, particularly under the heading 
“Summary of Risk Factors” and the risk factors detailed further in Part I, Item 1A. Risk Factors that we believe could 
cause actual results or events to differ materially from the forward-looking statements that we make. 

Our forward-looking statements do not reflect the potential impact of any future acquisitions, mergers, dispositions, 

joint ventures or investments we may make. 

You should read this Annual Report on Form 10-K and the documents that we have filed as exhibits to this Annual 
Report on Form 10-K completely and with the understanding that our actual future results may be materially different 
from what we expect. We do not assume any obligation to update any forward-looking statements whether as a result of 
new information, future events or otherwise, except as required by applicable law. 

In this Annual Report on Form 10-K, unless otherwise stated or the context otherwise requires, references to “PTC,” 
“PTC Therapeutics,” “we,” “us,” “our,” “the Company,” and similar references refer to PTC Therapeutics, Inc. and, where 
appropriate,  its  subsidiaries.  The  trademarks,  trade  names  and  service  marks  appearing  in  this  Annual  Report  on 
Form 10-K are the property of their respective owners. 

All website addresses given in this Annual Report on Form 10-K are for information only and are not intended to be 

an active link or to incorporate any website information into this document. 

3 

 
 
 
 
 
 
 
 
 
 
 
 
 
SUMMARY OF RISK FACTORS 

Below is a summary of the principal risk factors that make an investment in our common stock speculative or risky. 
This  summary  does  not  address  all  of  the  risks  and  uncertainties  that  we  face.  Additional  risks  and  uncertainties  not 
presently  known  to us or  that  we  presently  deem  less  significant  may  also  impair our business  operations.  Additional 
discussion of the risks summarized in this risk factor summary, and other risks that we face, can be found in Item 1A. Risk 
Factors, of this Annual Report on Form 10-K, and should be carefully considered, together with other information in this 
Annual Report on Form 10-K and our other filings with the Securities Exchange Commission, before making an investment 
decision regarding our common stock. The forward-looking statements discussed above are qualified by these risk factors. 
If any of the following risks occur, our business, financial condition, results of operations and future growth prospects 
could be materially and adversely affected. 

Summary of Risk Factors 

•  We may be unable to continue to commercialize Translarna for nmDMD in the EEA if the EC adopts the negative 

opinion issued by the CHMP for the renewal of the existing conditional authorization for Translarna. 

•  We may be unable to continue to execute our commercial strategy for our products, fail to obtain renewal of, or 

satisfy the conditions of our marketing authorization for our products; 

•  Delays or failures in obtaining regulatory approval would materially impair our commercialization capabilities; 
•  We may not qualify for certain specialized pathways to develop our product candidates or to seek approval; 
•  We or our collaborators may experience any of a number of possible unforeseen events in connection with clinical 

trials related to our products and product candidates; 

•  Subgroup, retrospective, post-hoc, and certain statistical analyses may not be reliable and typically will not form 

the basis for regulatory approval; 

•  We may experience delays or difficulties in the enrollment of patients in our clinical trials; 
•  We may identify serious adverse side effects during the development or further development of any product or 

product candidate; 

•  Our products and product candidates may be difficult to manufacture; 
•  Our products and product candidates may fail to achieve market acceptance in the medical community; 
•  We may be unable to establish or maintain sales, marketing and distribution capabilities or enter into agreements 

with third parties to market, sell and distribute our products or product candidates; 

•  A substantial portion of our commercial sales currently occurs in territories outside of the United States which 
subjects us to additional business risks and laws and regulations, including those governing export restrictions 
and economic sanctions; 

•  We face substantial competition; 
•  Our  products  or  product  candidates  may  become  subject  to  unfavorable  pricing  regulations,  third-party 

reimbursement practices or healthcare reform initiatives; 

•  We  have  incurred  significant  losses  since  our  inception  and  expect  to  continue  to  incur  significant  operating 
expenses for the foreseeable future. We may need additional funding and we may never generate profits from 
operations or maintain profitability; 

•  We may engage in strategic transactions to acquire assets, businesses, or rights to products, product candidates 
or technologies or from collaborations or make investments in other companies or technologies that could harm 
our business and dilute our stockholders’ ownership; 

•  Raising additional capital may dilute our stockholders’ ownership, restrict our operation or require us to relinquish 

rights to our technologies or product candidates; 

•  We may not be able to comply with applicable laws and regulations for our products or product candidates; 
•  We may not be able to obtain orphan drug exclusivity for our products or product candidates in either the United 

States or the EU; 

•  All  pharmaceutical  products for which  marketing  authorization  has been  granted  are  subject  to  extensive  and 

rigorous regulation; 

•  Failure to obtain and maintain acceptable pricing and reimbursement terms for our products would delay our 

commercialization efforts; 

4 

 
 
•  Legislative and regulatory changes affecting the pharmaceutical industry or the healthcare system more broadly 

may negatively affect our business; 

•  We may fail to properly allocate our resources; 
•  We contract with third parties for the manufacture and distribution of our products and certain of our product 

candidates and these third parties may encounter issues that affect our business; 

•  We rely on third parties to conduct our preclinical and clinical trials and other essential services; 
•  We currently depend, and expect to continue to depend, on collaborations with third parties for the development 

and commercialization of some of our products and product candidates; 

•  Our business and operations would suffer in the event of computer system failures, cyber-attacks or a deficiency 

in our, or our collaborators’ or third-party vendors’, cyber-security; 

•  We may be subject to product liability and other civil lawsuits; 
•  We may be unable to retain our key executives; 
•  We may be unable to obtain or maintain patent protection for our technology and products; 
•  We  may  become  involved  in  lawsuits  to  protect  or  enforce  our  intellectual  property  or  in  connection  with 

allegations that we are infringing on third party intellectual property rights; 
•  Without patent protection, our marketed products may face generic competition; 
•  We may not obtain or maintain adequate trademark protection for our brand names; 
•  Our rights to develop and commercialize Upstaza are subject, in part, to the terms and conditions of licenses 

granted to us by others; 

•  We may not have sufficient cash flow from our business to make payments on our debt; and 
•  The price of our common stock may be volatile and fluctuate substantially. 

5 

 
 
 
Item 1.   Business 

Overview 

PART I 

We are a global biopharmaceutical company focused on the discovery, development and commercialization of clinically 
differentiated  medicines  that  provide  benefits  to  patients  with  rare  disorders.  Our  ability  to  innovate  to  identify  new 
therapies  and  to  globally  commercialize  products  is  the  foundation  that  drives  investment  in  a  robust  and  diversified 
pipeline of transformative medicines. Our mission is to provide access to best-in-class treatments for patients who have 
little to no treatment options. Our strategy is to leverage our strong scientific and clinical expertise and global commercial 
infrastructure to bring therapies to patients. We believe that this allows us to maximize value for all of our stakeholders. 

Our Pipeline 

We have a diversified therapeutic portfolio that includes several commercial products and product candidates in various 
stages of development, including discovery, research and clinical stages, focused on the development of new treatments 
for multiple therapeutic areas for rare diseases relating to neurology and metabolism. The chart and the disclosure directly 
below summarizes the status of our significant clinical-stage programs and commercial products as of the date of this 
report, including those with our strategic partners:  

•  Global Commercial Footprint 

o  Global DMD Franchise – We have two products, TranslarnaTM (ataluren) and Emflaza® (deflazacort), for 
the  treatment  of  Duchenne  muscular  dystrophy,  or  DMD,  a  rare,  life  threatening  disorder.  Translarna 
currently has conditional marketing authorization in the European Economic Area, or EEA, for the treatment 
of nonsense mutation Duchenne muscular dystrophy, or nmDMD, in ambulatory patients aged two years and 
older.  On  January  25,  2024,  the  Committee  for  Medicinal  Products  for  Human  Use,  or  CHMP,  of  the 
European Medicines Agency, or EMA, issued a negative opinion for the conditional marketing authorization 
following a re-examination procedure. In accordance with EMA regulations, the European Commission, or 
EC, has 67 days to adopt the opinion from the date of its issuance. If the EC adopts the negative opinion, 
Translarna  would  no  longer  have  marketing  authorization  in  the  EEA.  Translarna  also  has  marketing 
authorization in Russia for the treatment of nmDMD in patients aged two years and older, and in Brazil for 
the treatment of nmDMD in ambulatory patients two years and older and for continued treatment of patients 
that become non-ambulatory, as well as in various other countries as described below. Emflaza is approved 
in the United States for the treatment of DMD in patients two years and older. 

6 

 
 
 
 
o  UpstazaTM (eladocagene exuparvovec) – Upstaza, a gene therapy for the treatment of Aromatic L-Amino 
Decarboxylase, or AADC, deficiency, a rare central nervous system, or CNS, disorder is approved for the 
treatment of AADC deficiency for patients 18 months and older within the EEA and the United Kingdom. 
We  expect  to  submit  a  biologics  license  application,  or  BLA,  for  Upstaza  for  the  treatment  of  AADC 
deficiency in the United States to the United States Food and Drug Administration, or FDA, in March 2024. 
o  Tegsedi®  (inotersen)  and  Waylivra®  (volanesorsen)  –  We  hold  the  rights  for  the  commercialization  of 
Tegsedi and Waylivra for the treatment of rare diseases in countries in Latin America and the Caribbean 
pursuant to our Collaboration and License Agreement with a subsidiary of Ionis Pharmaceuticals, Inc., or 
Ionis. Tegsedi has received marketing authorization in the United States, European Union, or EU, and Brazil 
for  the  treatment  of  stage  1  or  stage  2  polyneuropathy  in  adult  patients  with  hereditary  transthyretin 
amyloidosis,  or  hATTR  amyloidosis.  Waylivra  is  approved  in  Brazil  for  the  treatment  of  familial 
chylomicronemia syndrome, or FCS, and familial partial lipodystrophy, or FPL. 

o  Evrysdi® (risdiplam) – Evrysdi, a treatment for spinal muscular atrophy, or SMA, was approved by the FDA 
for the treatment of SMA in adults and children of all ages and by the EC for the treatment of 5q SMA in 
patients of all ages with a clinical diagnosis of SMA Type 1, Type 2 or Type 3 or with one to four SMN2 
copies. Evrysdi has also received marketing authorization for the treatment of SMA in over 100 countries. 
Evrysdi  is  a  product  of  our  SMA  program  and  our  collaboration  with  F.  Hoffman-La  Roche Ltd.  and 
Hoffman-La  Roche Inc.,  which  we  refer  to  collectively  as  Roche,  and  the  Spinal  Muscular  Atrophy 
Foundation, or SMA Foundation. 

•  Diversified Development Pipeline 

o  Sepiapterin  –  We  expect  to  submit  a  marketing  authorization  application,  or  MAA,  to  the  EMA  for 
sepiapterin  for  the  treatment of phenylketonuria, or  PKU, in  the  EEA  in March  2024. We  also  expect  to 
submit a New Drug Application, or NDA, to the FDA for sepiapterin for the treatment of PKU no later than 
the third quarter of 2024.  

o  Splicing Platform – In addition to our SMA program, our splicing platform also includes PTC518, which is 
being developed for the treatment of Huntington’s disease, or HD. We initiated a Phase 2 study of PTC518 
for the treatment of HD in the first quarter of 2022, which consists of an initial 12-week placebo-controlled 
phase focused on safety, pharmacology and pharmacodynamic effects followed by a nine-month placebo-
controlled phase focused on PTC518 biomarker effect. In June 2023, we announced interim data from the 
12-week placebo-controlled phase. We expect to provide 12-month interim data from the Phase 2 study of 
PTC518 for the treatment of HD in the second quarter of 2024. 

o  Ferroptosis  and  Inflammation  Platform –  The  two  most  advanced  molecules  in  our  ferroptosis  and 
inflammation platform are vatiquinone and utreloxastat. We announced topline results from a registration-
directed Phase 3 trial of vatiquinone in children and young adults with Friedreich ataxia, called MOVE-FA, 
in  May  2023.    While  the  trial  did  not  meet  its  primary  endpoint,  vatiquinone  treatment  did  demonstrate 
significant  benefit  on  key  disease  subscales,  including  the  upright  stability  subscale,  as  well  as  on  other 
disease relevant endpoints. In the first quarter of 2024, we met with the FDA, who expressed willingness to 
review an NDA for vatiquinone for the treatment of Friedreich ataxia based on the MOVE-FA trial as well 
as data from the ongoing open label extension study following the MOVE-FA trial, potentially allowing for 
the submission of an NDA in late 2024. In the first quarter of 2024, we also received scientific advice from 
the EMA on the MOVE-FA trial results, in which the EMA stated that the MOVE-FA data would likely not 
be sufficient for conditional authorization. We initiated a Phase 2 registration directed trial of utreloxastat 
for amyotrophic lateral sclerosis, or ALS, in the first quarter of 2022. We expect topline results from this 
trial in the fourth quarter of 2024. 

•  Pre-clinical Pipeline 

o  We continue to invest in our pre-clinical product pipeline by committing significant resources to research 
and  development  programs  to  provide  access  to  best-in-class  treatments  for  patients  who  have  an  unmet 
medical need. Our pre-clinical efforts are focused on two scientific platforms: splicing and ferroptosis, two 
areas of science where PTC has significant expertise. 

7 

 
 
Global Commercial Footprint 

Global DMD Franchise 

Duchenne muscular dystrophy (DMD) 

Muscular  dystrophies  are  genetic  disorders  involving  progressive  muscle  wasting  and  weakness.  DMD  is  the  most 
common and one of the most severe types of muscular dystrophy. DMD occurs when a mutation in the dystrophin gene 
prevents the cell from making a functional dystrophin protein. Dystrophin is a muscle membrane associated protein and is 
critical to the structural and membrane stability of muscle fibers in skeletal, diaphragm and heart muscle. The absence of 
normally functioning dystrophin results in muscle fragility, such that muscle injury occurs when muscles contract or stretch 
during normal use. As muscle damage progresses, connective tissue and fat replace muscle fibers, resulting in inexorable 
muscle weakness. 

Because  the  dystrophin  gene  is  located  on  the  X  chromosome,  DMD  occurs  primarily  in  young  boys,  although 
approximately 10% of female carriers show some disease symptoms. DMD is rare, and estimates of occurrence include 
approximately  1  in  every  3,500  live  male  births,  according  to  the  National  Organization  for  Rare  Diseases  and 
approximately 1 in every 5,000 live male births according to Ryder (2017) in the European Journal of Human Genetics. 
We estimate that there are between approximately 10,000 to 15,000 DMD patients in the United States. Several different 
types of mutation in the dystrophin gene can result in DMD, including deletion, duplication and nonsense mutations. A 
test known as multiplex ligation-dependent probe amplification (MLPA) can detect large deletions and duplications, which 
account for approximately 75% of all mutations. However, gene sequencing is required to identify small mutations such 
as nonsense mutations. We estimate that nonsense mutations account for approximately 13% of cases of DMD. Without 
treatment, patients with DMD typically lose walking ability by their early teens, require ventilation support in their late 
teens, and eventually experience premature death due to heart and lung failure. Even with medical care, most people with 
DMD die from cardiac or respiratory failure before or during their 30s. 

Marketing authorization matters 

Translarna for the treatment of nonsense mutation Duchenne muscular dystrophy 

European Economic Area 

We  received  marketing  authorization  from  the  EC  in  August 2014  for  Translarna  for  the  treatment  of  nmDMD  in 
ambulatory  patients  aged  five years  and  older  in  the  member  states  of  the  EEA,  subject  to  annual  renewal  and  other 
conditions. In July 2018, the EC approved a label-extension request to our marketing authorization for Translarna in the 
EEA to include patients from two to up to five years of age. In July 2020, the EC approved the removal of the statement 
“efficacy has not been demonstrated in non-ambulatory patients” from the indication statement for Translarna. 

The marketing authorization is subject to annual review and renewal by the EC following reassessment by the EMA of the 
benefit-risk balance of continued authorization, which we refer to as the annual EMA reassessment. In September 2022, 
we  submitted  a  Type  II  variation  to  the  EMA  to  support  conversion  of  the  conditional  marketing  authorization  for 
Translarna to a standard marketing authorization, which included a report on the placebo-controlled trial of Study 041 and 
data from the open-label extension as further described below. In February 2023, we also submitted an annual marketing 
authorization renewal request to the EMA. In September 2023, the CHMP gave a negative opinion on the conversion of 
the conditional marketing authorization to full marketing authorization of Translarna for the treatment of nmDMD and a 
negative opinion on the renewal of the existing conditional marketing authorization of Translarna for the treatment of 
nmDMD.  On  January  25,  2024,  the  CHMP  issued  a  negative  opinion  for  the  renewal  of  the  conditional  marketing 
authorization following a re-examination procedure. In accordance with EMA regulations, the EC has 67 days to adopt 
the opinion. If the EC adopts the negative opinion, Translarna would no longer have marketing authorization in the member 
states of the EEA. We are exploring other potential mechanisms in which we may provide Translarna to nmDMD patients 
in the EEA if the negative opinion is adopted by the EC. 

8 

Marketing authorization is required in order for us to engage in any commercialization of Translarna in the EEA, which 
allows us to participate in pricing and reimbursement negotiations, on a country-by-country basis with each country in the 
EEA. Individual countries in the EEA have the ability to make Translarna available under early access programs, or EAP 
programs, or through similar styled programs. There is substantial risk that if the EC adopts the CHMP’s negative opinion 
or we are otherwise unable to renew our EEA marketing authorization during any annual renewal cycle or we are unable 
to identify other potential mechanisms in which we may provide Translarna to nmDMD patients in the EEA should the 
CHMP’s  negative  opinion  be  adopted  by  the  EC  or  our  product  label  is  materially  restricted,  we  would  lose  all,  or  a 
significant portion of, our ability to generate revenue from sales of Translarna in the EEA and other territories. For more 
information  regarding  the  risks  associated  with  the  a  potential  EC  adoption  of  the  CHMP’s  negative  opinion  on 
Translarna’s  marketing  authorization,  see  Item  1A.  Risk  Factors,  “We  may  be  unable  to  continue  to  commercialize 
Translarna  for  nonsense  mutation  Duchenne  muscular  dystrophy  in  the  European  Economic  Area  if  the  European 
Commission adopts the negative opinion issued by the Committee for Medicinal Products for Human Use of the European 
Medicines Agency for the renewal of the existing conditional authorization for Translarna.” 

See “Item 1. Business-Commercial Matters-Market Access Considerations” and “Item 1A. Risk Factors-Risks Related to 
the Development and Commercialization of our Product and our Product Candidates” and “-Risks Related to Regulatory 
Approval of our Product and our Product Candidates” for further information regarding the marketing authorization in the 
EEA, the market access process and related risks. 

As the marketing authorization holder, we are obligated to monitor the use of Translarna for nmDMD to detect, assess and 
take  required  action  with  respect  to  information  that  could  impact  the  safety  profile  of  Translarna  and  to  report  this 
information, through pharmacovigilance submissions, to the  EMA. Following its assessment of these submissions, the 
EMA can recommend to the EC actions ranging from the continued maintenance of the marketing authorization to its 
withdrawal. 

United States 

Translarna  is  an  investigational  new  drug  in  the United  States.  During  the  first quarter of 2017,  we  filed  an  NDA  for 
Translarna for the treatment of nmDMD over protest with the FDA. In October 2017, the Office of Drug Evaluation I of 
the FDA issued a Complete Response Letter, or CRL, for the NDA, stating that it was unable to approve the application 
in its current form. In response, we filed a formal dispute resolution request with the Office of New Drugs of the FDA. In 
February 2018, the Office of New Drugs of the FDA denied our appeal of the CRL. In its response, the Office of New 
Drugs recommended a possible path forward for our ataluren NDA submission based on the accelerated approval pathway. 
This would involve a re-submission of an NDA containing the current data on effectiveness and safety of ataluren with 
new data to be generated on dystrophin production in nmDMD patients’ muscles. We followed the FDA’s recommendation 
and  collected, using newer  technologies via  procedures and  methods  that  we designed, such  dystrophin data  in  a  new 
study, Study 045, and announced the results of Study 045 in February 2021. Study 045 did not meet its pre-specified 
primary endpoint. In June 2022, we announced top-line results from the placebo-controlled trial of Study 041, which was 
our 18-month, placebo-controlled trial, followed by an 18-month open-label extension, of Translarna in the treatment of 
ambulatory patients with nmDMD aged five years or older. Following this announcement, we submitted a meeting request 
to the FDA to gain clarity on the regulatory pathway for a potential re-submission of an NDA for Translarna. The FDA 
provided initial written feedback that Study 041 does not provide substantial evidence of effectiveness to support NDA 
re-submission. We held a Type C meeting with the FDA in the fourth quarter of 2023 to discuss the totality of Translarna 
data. Based on this discussion, the FDA suggested we request a pre-submission Type C meeting to discuss the specific 
contents of  an  NDA  resubmission based on  results  from Study  041  and  from our  international drug registry study for 
nmDMD patients receiving Translarna. This meeting is scheduled for March 2024. 

See “Item 1. Business-Government Regulation-The new drug and biologic approval process” below for further discussion 
with respect to the NDA process. See “Item 1. Business-Translarna (ataluren)” and “Item 1A. Risk Factors-Risks Related 
to the Development and Commercialization of our Product and our Product Candidates” and “-Risks Related to Regulatory 
Approval of our Product and our Product Candidates” for further detail regarding the results of our completed trials and 
studies  of  Translarna  for  the  treatment  of  nmDMD,  our  regulatory  strategy  in  the  United  States,  our  history  with 
submissions to the FDA and the related risks to our business. 

9 

Other Territories 

Translarna received marketing authorization for the treatment of nmDMD in Israel and South Korea in 2015, Chile in 
2018, Brazil in 2019 and Russia in 2020, in addition to approvals from other countries, and these licenses are currently 
active.  Many  territories  outside  of  the  EEA,  including  Israel,  South  Korea  and  Chile,  reference  and  depend  on  the 
determinations by the EMA when considering the grant of a marketing authorization. It is possible that we would not be 
able to maintain our marketing authorizations in these regions in the event the EMA decides not to renew or otherwise 
modifies  or  withdraws  our  marketing  authorization  in  the  EEA.    In  addition,  Translarna  is  authorized  in  the  United 
Kingdom and will undergo a national assessment. The marketing authorization for Translarna in Brazil and Russia are 
subject to renewal every five years. We have been pursuing and expect to continue to pursue marketing authorizations for 
Translarna for the treatment of nmDMD in other regions. 

Emflaza for the treatment of Duchenne muscular dystrophy in the United States 

Emflaza, both in tablet and suspension form, received approval from the FDA in February 2017 as a treatment for DMD 
in patients five years of age and older in the United States. In June 2019, the FDA approved our label expansion request 
for Emflaza for patients two to five years of age. We estimate that there are between approximately 10,000 and 15,000 
DMD patients in the United States. 

Emflaza received a seven-year marketing exclusivity period in the United States for its approved indications, commencing 
on the date of FDA approval, under the provisions of the Orphan Drug Act of 1983, or the Orphan Drug Act. We have 
previously relied on this exclusivity period to commercialize Emflaza in the United States. Emflaza’s seven-year period 
of orphan drug exclusivity related to the treatment of DMD in patients five years and older expired in February 2024. We 
expect the expiration of this orphan drug exclusivity to have a significant negative impact on Emflaza net product revenue. 
Emflaza’s orphan drug exclusivity related to the treatment of DMD in patients two years of age to less than five expires 
in June 2026. See “Item 1. Business-Government Regulation” for further discussion with respect to marketing protection 
we rely on. 

Upstaza 

Upstaza is a gene therapy for the treatment of AADC deficiency, a rare CNS disorder arising from reductions in the enzyme 
AADC  that  results  from  mutations  in  the  dopa  decarboxylase  gene.  In  July  2022,  the  EC  approved  Upstaza  for  the 
treatment of AADC deficiency for patients 18 months and older within the EEA. In November 2022, the Medicines and 
Healthcare products Regulatory Agency approved Upstaza for the treatment of AADC deficiency for patients 18 months 
and older within the United Kingdom. We are also preparing a BLA for Upstaza for the treatment of AADC deficiency in 
the United States. In October 2022, we held a Type C meeting with the FDA to discuss the details of a potential submission 
package for Upstaza. At that meeting, the FDA asked for additional bioanalytical data in support of comparability between 
the drug product used in the clinical studies and the commercial drug product. We completed these analyses and provided 
the results to the FDA for review. The FDA stated that the data that we provided were still not sufficient. However, the 
FDA also said that the available data from the ongoing clinical study in the United States assessing the safety of the drug 
delivery  cannula  for  Upstaza  could  be  used  to  support  a  BLA  for  accelerated  approval  based  on  biomarker  data 
demonstrating a treatment-related increase in de novo dopamine production. At the FDA’s suggestion, we held a pre-BLA 
meeting in December 2023. We expect to submit a BLA to the FDA for Upstaza for the treatment of AADC deficiency in 
March 2024. 

AADC is the enzyme responsible for the conversion of L-dopa to dopamine. Dopamine is a key neurotransmitter that acts 
within the striatum (caudate and putamen), a component of the brain’s deep grey matter, to modulate output of neurons 
that project to the motor and premotor cortices of the brain that plan and execute normal motor function. Dopamine is 
required in the brain for humans to develop and maintain proper motor function. 

AADC  deficiency  is  a  monogenic  disorder  of  neurotransmitter  synthesis  that  manifests  in  young  children  and  most 
commonly  results  in  profound  developmental  delay,  often  seen  as  complete  arrest  of  motor  development.  AADC 
deficiency  generally  causes  the  inability  to  develop  motor  control,  resulting  in  breathing,  feeding,  and  swallowing 
problems, frequent hospitalizations, and the need for life-long care. On average, patients with AADC deficiency die in the 

10 

first  decade  of  life  due  to  profound  motor  dysfunction  and  secondary  complications  such  as  choking,  hypoxia,  and 
pneumonia. Currently, no treatment options are available for the underlying cause of the disorder, and care is limited to 
palliative options with significant burden on caregivers. 

The prevalence of AADC deficiency has been estimated to be approximately 5,000 patients worldwide, with a live-birth 
incidence of up to 1 in 40,000 worldwide. While several diagnostic tests for AADC deficiency are available, we believe 
the condition remains largely undiagnosed or misdiagnosed and may be confused with cerebral palsy. 

Upstaza is an adeno-associated virus, or AAV, gene therapy, which has been assessed in three completed clinical trials, 
AADC-1601,  AADC-010  and  AADC-011.  The  three  completed  trials  included  a  total  of  30  children  with  AADC 
deficiency who were treated with Upstaza during a single procedure in which the gene therapy was administered directly 
to the region of the brain, called the putamen, where dopamine is made and released. The targeted micro-dosing approach 
administering small amounts of gene therapy directly to focal regions of affected cells in the putamen has the benefit of 
keeping  the  supply  requirements  for  materials  low,  improving  access  of  the  therapeutic  gene  to  key  cells,  potentially 
limiting immune and complement-mediated responses and reducing the risk of off-target uptake and excretion of the gene 
therapy by the liver and kidneys. Results from these trials suggest that patients may have a gain of motor functions and 
improvement in cognitive scales following gene therapy administration and have shown significant increases in motor 
function, which contrasts with the published natural history. 

AADC-1601,  AADC-010  and  AADC-011,  were  each  single-arm,  open-label,  interventional  trials.  The  primary  and 
secondary  objectives  of  these  trials  were  to  assess  the  safety  and  efficacy  of  Upstaza  administered  via  bilateral 
putaminal-infusions in patients with severe AADC deficiency. Study enrollment required a diagnosis of AADC deficiency, 
defined as decreased homovanilic acid, or HVA, and 5-hydroxyindoleacetic acid, or 5-HIAA, and elevated levels of L-
DOPA in the cerebrospinal fluid, or CSF, the presence of more than one DDC gene mutation, and the presence of clinical 
symptoms of AADC deficiency (including developmental delay, hypotonia, dystonia, and oculogyric crisis), and a patient 
age of older than 2 years. 

Patients were evaluated monthly for safety assessments and every three months for efficacy assessments that included tests 
of motor developmental testing (Peabody Developmental Motor Scale, Second Edition, or PDMS-2, and Alberta Infant 
Motor  Scale, or AIMS)  through  the first year  after  treatment with Upstaza  and  at periodic  intervals thereafter  through 
five years following treatment. The PDMS-2 and AIMS are validated scales used to assess motor skills in young children. 
Pharmacodynamic testing of CNS AADC activity over time included analyses of CSF neurotransmitter metabolites and 
F-DOPA PET imaging intervals, also through five years. 

At baseline, patients had no functional movement and failed to achieve any motor milestones, including head control, 
sitting or standing capabilities, consistent with the published natural history of severe AADC deficiency. Compared to 
baseline, at one-year and at five-years after Upstaza administration, patients had objective evidence of de novo dopamine 
production as visualized by F-DOPA PET imaging of the brain, consistent with successful and stable gene expression and 
enzyme  activity  over  time.  Additionally,  HVA  levels,  which  is  the  major  metabolite  of  dopamine  metabolism,  were 
measured at month 12 to determine if new dopamine was synthesized. HVA levels increased significantly from baseline 
at month 12, consistent with de novo dopamine synthesis. 

Following  administration  of  Upstaza,  the  combined  group  of  patients  showed  significant  improvements  from  baseline 
capabilities at one-year post-treatment in functional motor skills assessed with the PDMS-2 total score, as well as on the 
locomotion, grasping, visual-motor integration and stationary subscales. Significant improvements from baseline at one-
year post-treatment were also observed for the combined group of patients on the AIMS total score and on the prone, 
supine, sit and stand subscales. 

Compared to published natural history data, patients in these trials showed statistically significant improvements at both 
two-  and  five-year  post-treatment  in  achievement  of  motor  milestones  of  full  head  control  (at  2  and  5 years),  sitting 
unassisted (at 2 and 5 years), standing with support (at 5 years) and walking with assistance (at 5 years), reinforcing the 
clinical benefit and sustainability of functional motor improvements. 

11 

Surgical injection of Upstaza in the completed trials was well tolerated. Adverse events were generally associated with the 
disease  state.  The  most  frequent  adverse  event  associated  with  Upstaza  was  dyskinesia  and  these  events  completely 
resolved over time. No serious adverse events have been attributed to Upstaza. 

Patients from our completed trials have been offered to continue to follow up in Study 1602, which is intended to assess 
long-term safety and efficacy of Upstaza. Additionally, Study AADC-002, a multicenter, open-label trial to assess and 
efficacy of Upstaza, is ongoing.  We have enrolled 13 patients in this study.  

Upstaza for the treatment of AADC deficiency has orphan drug designation in the United States and EU, and rare pediatric 
disease  designation  in  the  United  States,  and  upon  BLA  approval  the  FDA  may  grant  us  a  priority  review  voucher, 
depending on the timing of the approval. 

Due to its orphan medicinal product designation by the EMA, we rely on a ten-year exclusive marketing period for Upstaza 
in the EEA, which may potentially be extended for two additional years if we receive approval for a pediatric exclusivity 
incentive. If Upstaza for the treatment of AADC deficiency receives FDA approval, we expect that Upstaza would have a 
twelve-year exclusive marketing period in the United States for the approved indication, commencing on the date of FDA 
approval, under the provisions of the Biologics Price Competition and Innovation Act of 2009, or BPCIA, as well as a 
concurrent  seven-year  exclusive  marketing  period,  which  would  commence  on  the  date  of  FDA  approval,  under  the 
provisions of the Orphan Drug Act. We expect to rely on the twelve-year BPCIA regulatory exclusivity and concurrent 
seven-year Orphan Drug Act exclusivity to commercialize Upstaza in the United States, if it is approved. 

See “Item 1. Business-Government Regulation-The new drug and biologic approval process” below for further discussion 
with respect to the BLA process. 

Tegsedi and Waylivra 

In  August 2018  we  entered  into  a  Collaboration  and  License  Agreement  with  Akcea  Therapeutics, Inc.,  or  Akcea,  a 
subsidiary of Ionis for the commercialization by us of Tegsedi, Waylivra and products containing those compounds in 
countries in Latin America and the Caribbean, or the PTC Territory. See “Item 1. Business-Our Collaborations, License 
Agreements  and  Funding  Arrangements-Tegsedi  and  Waylivra”  below  for  further  discussion  with  respect  to  this 
collaboration and license agreement. 

Tegsedi 

Tegsedi, a product of Ionis’ proprietary antisense technology, is an antisense oligonucleotide, or ASO, inhibitor of human 
transthyretin, or TTR, production. Tegsedi is the world’s first RNA-targeted therapeutic to treat patients with hereditary 
transthyretin amyloidosis, or hATTR amyloidosis. In October 2019, it received marketing authorization from ANVISA, 
the  Brazilian health  regulatory  authority,  for  the  treatment  of  stage 1 or stage  2  polyneuropathy  in  adult  patients with 
hATTR amyloidosis in Brazil. Our marketing authorization for Tegsedi in Brazil is subject to renewal every five years. It 
has also received marketing authorization in the United States and EU for the same indication. 

hATTR amyloidosis is a progressive, systemic and fatal inherited disease caused by the abnormal formation of the TTR 
protein and aggregation of TTR amyloid deposits in various tissues and organs throughout the body, including in peripheral 
nerves,  heart,  intestinal  tract,  eyes,  kidneys,  central  nervous  system,  thyroid  and  bone  marrow.  The  progressive 
accumulation of TTR amyloid deposits in these tissues and organs leads to sensory, motor and autonomic dysfunction 
often having debilitating effects on multiple aspects of a patient’s life. Patients with hATTR amyloidosis often present 
with a mixed phenotype and experience overlapping symptoms of polyneuropathy and cardiomyopathy. 

Ultimately, hATTR amyloidosis generally results in death within three to fifteen years of symptom onset. Therapeutic 
options for the treatment of patients with hATTR amyloidosis are limited and there are currently no disease-modifying 
drugs approved for the disease. There are an estimated 50,000 patients with hATTR amyloidosis worldwide, including 
approximately 6,000 patients with polyneuropathic hATTR amyloidosis in Latin America. 

12 

Waylivra 

Waylivra  is  an  ASO  that  has  received  marketing  authorization  in  the  EU  for  the  treatment  of  FCS,  subject  to  certain 
conditions.  The  United  States  and  EU  regulatory  agencies  have  granted  orphan  drug  designation  to  Waylivra  for  the 
treatment of FCS. In connection with the marketing approval for Waylivra in the EU, the EC is requiring Akcea to provide 
results of a study based on a registry of patients to investigate how blood checks and adjustments to frequency of injections 
are  carried  out  in  practice  and  how  well  they  work  to  prevent  thrombocytopenia  and  bleeding  in  FCS  patients  taking 
Waylivra.  In  August  2021,  ANVISA  approved  Waylivra  as  the  first  treatment  for  FCS  in  Brazil.  Our  marketing 
authorization for Waylivra in Brazil is subject to renewal every five years. 

FCS is an ultra-rare disease caused by impaired function of the enzyme lipoprotein lipase, or LPL, and characterized by 
severe hypertriglyceridemia (>880mg/dL) and a risk of unpredictable and potentially fatal acute pancreatitis. Because of 
limited LPL function, people with FCS cannot break down chylomicrons, lipoprotein particles that are 90% triglycerides. 
In addition to pancreatitis, FCS patients are at risk of chronic complications due to permanent organ damage. They can 
experience daily symptoms including abdominal pain, generalized fatigue and impaired cognitions that affect their ability 
to  work.  People  with  FCS  also  report  major  emotional  and  psychosocial  effects  including  anxiety,  social  withdrawal, 
depression and brain fog. There is no effective therapy for FCS currently available. 

Additionally, we received approval of Waylivra for the treatment of FPL in Brazil in December 2022. FPL is a rare genetic 
metabolic disease characterized by selective, progressive loss of body fat (adipose tissue) from various areas of the body 
leading to ectopic fat deposition in liver and muscle and development of insulin resistance, diabetes, dyslipidemia and 
fatty liver disease. Individuals with FPL often have reduced subcutaneous fat in the arms and legs and the head and trunk 
regions  may  or  may  not  have  loss  of  fat.  Conversely,  affected  individuals  may  also  have  excess  subcutaneous  fat 
accumulation in other areas of the body, especially the neck, face and intra-abdominal regions. 

Evrysdi 

Evrysdi was approved by the FDA in August 2020 for the treatment of SMA in adults and children two months and older 
and by the EC in March 2021 for the treatment of 5q SMA in patients two months and older with a clinical diagnosis of 
SMA Type 1, Type 2 or Type 3 or with one to four SMN2 copies. Evrysdi has also received marketing authorization for 
the treatment of SMA in over 100 countries. In May 2022, the FDA approved a label expansion for Evrysdi to include 
infants  under  two  months  old  with  SMA.  In  August  2023,  the  EC  approved  an  extension  of  the  Evrysdi  marketing 
authorization  to  include  infants  under  two  months  old  in  the  EU.  Evrysdi  is  a  product  of  our  SMA  program  and  our 
collaboration  with  Roche  and  the  SMA  Foundation.  For  additional  information,  see  “Item  1.  Business  –  Our 
Collaborations, License Agreements and Funding Arrangements – Roche and the SMA Foundation.” 

SMA is a genetic neuromuscular disease characterized by muscle wasting and weakness. The disease generally manifests 
early in life. SMA is caused by mutation or deletion of the Survival of Motor Neuron 1, or SMN1, gene that encodes the 
survival of motor neuron, or SMN, protein. The SMN protein is critical to the health and survival of the nerve cells in the 
spinal cord responsible for muscle contraction. A second gene, Survival of Motor Neuron 2, or SMN2, is very similar to 
SMN1, contains a T nucleotide at position 6 in exon 7 and produces low, insufficient levels of functional SMN protein 
due to alternative splicing of exon 7. According to the SMA Foundation, SMA is the leading genetic cause of death in 
infants and toddlers. Approximately 1 in 10,000 children is born with the disease. We estimate that there are between 
20,000 to 30,000 children and adults living with SMA in the United States, Europe and Japan. 

13 

Diversified Development Pipeline 

Our pipeline includes a number of programs at various stages of development including sepiapterin, PTC518 and other 
programs from our splicing and ferroptosis and inflammation platforms. Additionally, we have ongoing clinical studies of 
our current commercial product for maintaining authorizations and enabling additional authorizations. 

Sepiapterin 

Sepiapterin is a precursor to intracellular tetrahydrobiopterin, which is a critical enzymatic cofactor involved in metabolism 
and synthesis of numerous metabolic products. Sepiapterin has been pursued as a possible treatment for orphan metabolic 
diseases associated with defects in the tetrahydrobiopterin biochemical pathways, including PKU. PKU is an inborn error 
of metabolism caused predominantly by mutations in the phenylalanine hydroxylase gene resulting in toxic buildup of the 
amino acid phenylalanine, or Phe, in the brain, and, if left untreated, severe and irreversible disabilities such as permanent 
intellectual disability, seizures, delayed development, behavioral problems and possibly psychiatric disorders can occur. 
We  believe  that  there  are  approximately  58,000  PKU  patients  globally.  In  May  2023,  we  announced  that  the  primary 
endpoint was achieved in our registration-directed Phase 3 trial for sepiapterin for PKU. The primary endpoint of the study 
was the achievement of statistically-significant reduction in blood Phe level. The primary analysis population included 
those  patients  who  have  a  greater  than  30%  reduction  in  blood  Phe  levels  during  the  Part  1  run-in  phase  of  the  trial. 
Sepiapterin demonstrated Phe level reduction of approximately 63% in the overall primary analysis population and Phe 
level reduction of approximately 69% in the subset for classical PKU patients. Additionally, sepiapterin was well tolerated 
with no serious adverse events. Following the placebo-controlled study, patients were eligible to enroll in a long-term 
open-label study, which is still ongoing and will evaluate long-term safety, durability and Phe tolerance. We expect to 
submit  an  MAA  to  the  EMA  for  sepiapterin  for  the  treatment  of  PKU  in  the  EEA  in  March  2024.  Additionally,  we 
participated in a pre-NDA meeting with the FDA in the third quarter of 2023. At that meeting, the FDA stated that the 
sepiapterin  clinical  safety  and  efficacy  data  supported  NDA  submission  for  the  treatment  of  pediatric  and  adult  PKU 
patients.  However,  the  FDA  has  requested  that  we  complete  a  26-week  nonclinical  mouse  study  to  assess  sepiapterin 
carcinogenicity potential prior to NDA submission. This nonclinical study was not initially required when we acquired 
sepiapterin, as the NDA submission was planned under the Section 505(b)(2) pathway. Given that sepiapterin is a novel 
therapy with distinct pharmacology, biodistribution, mechanism of action and differentiated efficacy, we subsequently 
decided to make the NDA submission under the Section 505(b)(1) pathway, which requires the 26-week study, which is 
considered a required NDA component needed to inform labeling and is typically completed prior to submission. Based 
on the timing to complete this study, we expect to submit an NDA to the FDA for sepiapterin for the treatment of PKU no 
later than the third quarter of 2024 and we intend to discuss with the FDA the potential for an earlier submission if we are 
permitted to submit the 26-week mouse study report during the NDA review process.  

Splicing Platform 

Our  splicing  platform  focuses  on  the  development  of  innovative  therapies  for  diseases,  such  as  SMA,  that  involve 
regulation of mRNA splicing in the cell.  

In addition to Evrysdi and our SMA program, our splicing platform also includes PTC518, which is being developed for 
the treatment of HD. HD is a neurodegenerative and progressive brain disorder caused by a toxic gain-of-function triplet 
repeat expansion in the Huntingtin gene resulting in uncontrolled movements and cognitive loss. There are currently no 
disease-modifying  therapies  approved  to  delay  the  onset  or  slow  the  progression  of  HD.  We  believe  that  there  are 
approximately 135,000 HD patients globally. PTC518 is an orally bioavailable molecule with broad central nervous system 
and  systemic  distribution  that  has  been  designed  to  target  Huntingtin  protein  expression  with  high  selectivity  and 
specificity.  We  announced  the  results  from  our  Phase  1  study  of  PTC518  in  healthy  volunteers  in  September  2021 
demonstrating  dose-dependent  lowering  of  huntingtin  messenger  ribonucleic  acid  and  protein  levels,  that  PTC518 
efficiently crosses blood brain barrier at significant levels and that PTC518 was well tolerated.  We initiated a Phase 2 
study  of  PTC518  for  the  treatment  of  HD  in  the  first  quarter  of  2022,  which  consists  of  an  initial  12-week  placebo-
controlled  phase  focused  on  safety,  pharmacology  and  pharmacodynamic  effects  followed  by  a  nine-month  placebo-
controlled  phase  focused  on  PTC518  biomarker  effect.  In  June  2023,  we  announced  interim  data  from  the  12-week 
placebo-controlled  phase.  The  study  demonstrated  dose-dependent  lowering  of  Huntingtin,  or  HTT,  protein  levels  in 
peripheral blood cells, reaching an approximate mean 30% reduction in mutant HTT levels at the 10mg dose level. In 

14 

addition,  PTC518  exposure  in  the  cerebrospinal fluid was  consistent with or higher  than plasma unbound drug  levels. 
Furthermore, PTC518 was well tolerated with no treatment-related serious adverse events. The Phase 2 study is actively 
ongoing outside the United States, while it has been paused within the United States as the FDA requested additional data 
to allow the Phase 2 study to proceed. We expect to provide 12-month interim data from the Phase 2 study of PTC518 for 
the treatment of HD in the second quarter of 2024. We expect to submit a safety data update to the FDA in the second 
quarter of 2024 to support lifting of the partial clinical hold on the program.  

Ferroptosis and Inflammation Platform 

Our ferroptosis and inflammation platform consists of small molecule compounds that target oxidoreductase enzymes that 
regulate oxidative stress and inflammatory pathways central to the pathology of a number of CNS diseases. Oxidation-
reduction, or redox, reactions are an essential component of the generation and regulation of energy in living systems. 
These reactions are regulated through a set of enzymes known as oxidoreductase enzymes that uniquely require the transfer 
of an electron, or a redox chemical reaction, to affect their biological activity.  

One  of  the  advanced  molecules  in  our  ferroptosis  and  inflammation  platform  is  vatiquinone.  Vatiquinone  is  a  small 
molecule  orally  bioavailable  compound  that  has  been  in  development  for  inherited  mitochondrial  diseases  and  related 
genetic disorders of oxidative stress. Vatiquinone targets 15-lipoxygenase, or 15-LO, a key regulator of oxidative stress, 
lipid-based neuro-inflammation, alpha-synuclein oxidation and aggregation and cell death. We are developing vatiquinone 
for the treatment of Friedreich ataxia. Friedreich ataxia is a rare and life-shortening neurodegenerative disease caused by 
a  single  defect  in  the  FXN  gene  which  causes  reduced  production  of  the  frataxin  protein.  We  believe  that  there  are 
approximately 25,000 Friedreich ataxia patients globally. Vatiquinone has previously been studied in Friedreich ataxia 
patients  in  a  Phase  2  trial  that  included  a  six-month  placebo-controlled  phase  followed  by  an  18-month  open  label 
extension. In this trial, long-term vatiquinone treatment (18-24 months) was associated with an improvement in overall 
disease severity and neurological function relative to natural history. Vatiquinone has been generally well-tolerated in the 
clinic. 

We announced topline results from our MOVE-FA trial, a registration-directed Phase 3 trial of vatiquinone in children and 
young  adults  with  Friedreich  ataxia,  in  May  2023.  While  the  trial  did  not  meet  its  primary  endpoint  of  statistically 
significant  change  in  modified  Friedreich  Ataxia  Rating  Scale,  or  mFARS,  score  at  72  weeks  in  the  primary  analysis 
population, vatiquinone treatment did demonstrate significant benefit on key disease subscales and secondary endpoints. 
In  addition,  in  the  population  of  subjects  that  completed  the  study  protocol,  significance  was  reached  in  the  mFARS 
endpoint  and  several secondary  endpoints,  including  the upright  stability  subscale.  Furthermore,  vatiquinone  was well 
tolerated. In the first quarter of 2024, we met with the FDA, who expressed willingness to review an NDA for vatiquinone 
for the treatment of Friedreich ataxia based on the MOVE-FA trial as well as data from the ongoing open label extension 
study following the MOVE-FA trial, potentially allowing for the submission of an NDA in late 2024. In the first quarter 
of 2024, we also received scientific advice from the EMA on the MOVE-FA trial results, in which the EMA stated that 
the MOVE-FA data would likely not be sufficient for conditional authorization.  

The  other  advanced  molecule  in  our  ferroptosis  and  inflammation  platform  is  utreloxastat,  a  small  molecule  orally 
bioavailable  compound  that  targets  15-LO  and  is  in  development  for  the  potential  treatment  of  adult  CNS  patients, 
including  ALS.  ALS  is  a  rapidly  progressing  neurodegenerative  disease  caused  by  oxidative  damage  which  leads  to 
neuronal cell death and muscular atrophy. We believe that there are approximately 150,000 ALS patients globally. In the 
third  quarter  of  2021,  we  completed  a  Phase  1  trial  in  healthy  volunteers  to  evaluate  the  safety  and  pharmacology  of 
utreloxastat.  Utreloxastat  was  found  to  be  well-tolerated  with  no  reported  serious  adverse  events  while  demonstrating 
predictable pharmacology. We initiated a Phase 2 registration directed trial of utreloxastat for ALS in the first quarter of 
2022. We expect topline results from this trial in the fourth quarter of 2024.  

Translarna (ataluren) 

Mechanism of action 

We discovered Translarna by applying our technologies to identify molecules that promote or enhance the suppression of 
nonsense mutations. Nonsense mutations are implicated in a variety of genetic disorders. Nonsense mutations create a 

15 

premature stop signal in the translation of the genetic code contained in mRNA and prevent the production of full-length, 
functional proteins. Based on our research, we believe that Translarna interacts with the ribosome, which is the component 
of the cell that decodes the mRNA molecule and manufactures proteins, to enable the ribosome to read through premature 
nonsense stop signals on mRNA and allow the cell to produce a full-length, functional protein. As a result, we believe that 
Translarna has the potential to be an important therapy for genetic disorders which are the result of a nonsense mutation. 
Genetic tests are available for many genetic disorders, including those noted above, to determine if the underlying cause 
is a nonsense mutation. Translarna has been generally well-tolerated in all of our clinical trials, which have enrolled over 
1,000 individuals to date. 

Planned and ongoing clinical development of Translarna in nonsense mutation Duchenne muscular dystrophy 

Study 041 

Overview. As a specific obligation to our marketing authorization in the EEA, we were required to conduct and submit to 
the  EMA  the  results  of  a  three-year  clinical  trial  to  confirm  the  efficacy  and  safety  of  Translarna  in  the  treatment  of 
ambulatory  patients  with  nmDMD  aged  five years  or  older.  The  trial  was  comprised  of  two  stages:  an  18-month 
randomized, double-blind, placebo controlled clinical trial followed by an 18-month open label extension period. We refer 
to the 18-month clinical trial portion as “Stage 1” and the 18-month extension period as “Stage 2”. We refer to Stage 1 
and Stage 2 together as Study 041. In September 2022, as part of our specific obligation, we submitted a report on Stage 
1  and  data  from  Stage  2  in  connection  with  a  Type  II  variation  to  the  EMA  to  support  conversion  of  the  conditional 
marketing authorization for Translarna to a standard marketing authorization. 

For  a  discussion  of  the  risks  related  to  conducting  clinical  trials,  in  general,  and  Study  041,  in  particular,  please  see 
“Item 1A. Risk  Factors-Risks  Related  to  the  Development  and  Commercialization  of  our  Product  and  our  Product 
Candidates” and “-Risks Related to Regulatory Approval of our Product and our Product Candidates”. 

Enrollment. According to the study protocol, Study 041 enrolled nmDMD patients aged five years and above who achieve 
a 6-minute walk distance, or 6MWD, equal to or greater than 150 meters at three pre-treatment evaluation times (screening, 
baseline day one and baseline day two), tested as set forth in the protocol. Qualified participants also needed to perform 
timed function tests of running/walking 10 meters, climbing/descending four stairs and standing from supine within 30 
seconds at both screening and baseline, and meet the other criteria set forth in the protocol. 

We  completed  enrollment  of  Study  041  in the  fourth quarter  of  2020. Of  the 363 patients  enrolled in  Study 041, 185 
patients meet the criteria for inclusion in the primary analysis population, which we refer to as the modified intention-to-
treat population, or mITT. Patients included in the mITT must be at least 7, but less than 16, years old, with a 6MWD of 
equal to or greater than 300 meters and a stand from supine time of five seconds or more, each as tested at screening and 
baseline. 

Objectives and endpoints. The primary objective of Study 041 was to evaluate the effect of Translarna on ambulation and 
endurance as assessed by the 6-minute walk test, or 6MWT. Based on the study protocol, the primary analysis of Stage 1 
was to evaluate the difference in slope of change in 6MWD from baseline to week 72 between Translarna and placebo in 
the mITT population. Data from participants who did not qualify for inclusion in the mITT were used for summary and 
analysis of efficacy endpoints in the ITT (full date set) population. 

A secondary objective of Study 041 was to determine the effects of Translarna on ambulation and burst activity as assessed 
by timed function tests (10-meter run/walk, 4-stair stair-climb, and 4-stair stair descend). Each timed function test was 
analyzed as a secondary endpoint for both the mITT and ITT populations at the end of Stage 1 and was also analyzed at 
the end of Stage 2. A separate analysis evaluates 10-meter run/walk results in participants with a baseline 6MWD below 
300 meters. An additional analysis evaluates a composite endpoint of average change in times to run/walk 10 meters, climb 
4 stairs, and descend 4 stairs. We also assess each of time to loss of ambulation, stair-climbing and stair-descending over 
72 weeks and over 144 weeks. 

Determination  of  the  effects  of  Translarna  on  lower-limb  muscle  function  as  assessed  by  the  North  Star  Ambulatory 
Assessment, or NSAA, a functional scale designed for boys affected by DMD, serves as an additional secondary objective. 

16 

NSAA scores were analyzed as secondary endpoints for both the mITT and ITT populations at the end of Stage 1 and were 
also analyzed as at the end of Stage 2. A separate analysis for Stage 2 evaluated changes in total score in participants with 
a baseline 6MWD of equal to or greater than 400 meters and under 7 years of age. We also assessed the risk of loss of 
NSAA items over 72 weeks and 144 weeks. 

Slope of change in 6MWD over 144 weeks was also assessed as a secondary endpoint at the conclusion of Stage 2. Changes 
in 6MWD from baseline to week 72 and week 144 respectively were also addressed as secondary endpoints.  

The safety profile of Translarna was evaluated throughout Stage 1 and Stage 2 as a secondary objective. 

Certain exploratory endpoints were also assessed in Study 041. In patients aged 7 years and above, change from baseline 
in upper limb function is assessed using both functional testing and parent/caregiver-reported questionnaires. In patients 
under 7 years of age, muscle strength was assessed by change from baseline in myometry parameters. At pre-qualified 
sites only, magnetic resonance imaging were used to assess change from baseline in muscle fat fraction. The effects of 
Translarna on pulmonary function were assessed by change from baseline in forced vital capacity. In addition, subject- 
and parent/caregiver-reported questionnaires and at-home diaries were assessed to evaluate the effect of Translarna on 
health-related quality of life (HRQL) changes from baseline. 

Stratification. In Stage 1, participants were randomized 1:1 to placebo or Translarna (10, 10, 20 mg/kg). The randomization 
was stratified based on type of concomitant corticosteroid used at baseline (deflazacort versus prednisone/prednisolone), 
maximum of the two valid 6-minute walk tests performed at baseline day 1 and day 2 (<300 meters versus ≥300 to <350 
meters, versus ≥350 to <400 meters, versus ≥400 meters), and time to stand from supine at baseline (<5 seconds versus ≥5 
seconds). 

Results.  In  June  2022,  we  announced  top-line  results  from  Stage  1.  Within  Stage  1,  Translarna  showed  a  statistically 
significant  treatment  benefit  across  the  entire  ITT  population  as  assessed  by  the  6MWT  as  assessed  by  the  NSAA. 
Additionally, Translarna showed a statistically significant treatment benefit across the ITT population within the 10-meter 
run/walk and 4-stair stair climb, while also showing a positive trend in the 4-stair stair descend although not statistically 
significant. Within the mITT population, Translarna demonstrated a positive trend across all endpoints, however, statistical 
significance was not achieved. Translarna was also well tolerated with no new safety findings noted. 

Observational study, data collection, and open label, extension trials of Translarna for treatment of nmDMD 

We are undertaking a multi-center, observational post-approval study of patients receiving Translarna on a commercial 
basis, or Study 025o, as required by the Pharmacovigilance Risk Assessment Committee of the EMA and in collaboration 
with TREAT-NMD and the Cooperative International Neuromuscular Research Group. During the study we will gather 
data on the safety, effectiveness, and prescription patterns of Translarna in routine clinical practice. We have successfully 
enrolled more than 300 patients in Study 025o and we expect to follow their progress over five years. 

An  open  label,  extension  trial,  Study  016,  involving  patients  who  participated  in  ACT  DMD  is  also  ongoing,  across 
multiple sites in the United States and Canada with patients on commercial supply. We ended the two open label extension 
trials involving patients who had participated in our prior trials for nmDMD and have transitioned U.S. and Canadian 
patients  from  these  trials  to  Study  016  while  other  patients  have  transitioned  to  commercial  supply  via  commercial 
pathways or EAP programs. 

Completed clinical trials of Translarna in nonsense mutation Duchenne muscular dystrophy 

Phase 2 pediatric study 

As  part  of  our  pediatric  development  commitments  under  our  marketing  authorization  in  the  EEA  and  to  support  the 
potential expansion of the Translarna label to younger patients with nmDMD, we initiated a Phase 2 pediatric clinical 
study to evaluate the safety and pharmacokinetics of Translarna in patients two to five years of age. The study, initiated in 
June 2016, included a four-week screening period, a four-week study period, and a 48-week extension period for patients 
who complete the four-week study period (52 weeks total treatment). In July 2018, the EMA approved a label-extension 

17 

request to our marketing authorization for Translarna in the EEA to include patients from two to up to five years of age, 
based on data from this study. 

Phase 3 clinical trial of Translarna for nmDMD (ACT DMD) 

In October 2015, we announced results from ACT DMD, also referred to as Study 020, our Phase 3, double-blind, placebo-
controlled, 48-week clinical trial to evaluate the safety and efficacy of Translarna in patients with nmDMD. ACT DMD 
involved 228 patients at 53 sites across 18 countries. 

In the overall intent-to-treat, or ITT, study population, the primary endpoint of change from baseline at week 48 in the 
6MWT, showed a 15 meter benefit in favor of Translarna, which did not meet statistical significance. 

A summary of the safety and efficacy results from ACT DMD is outlined below. 

Safety  and  tolerability.    The  results  of  ACT  DMD  confirmed  the  favorable  safety  profile  of  Translarna  seen  in  our 
48-week, 174-patient Phase 2b double-blind, placebo controlled clinical trial evaluating the long-term safety and efficacy 
of Translarna in patients with nmDMD completed in 2009, or the Phase 2b trial. 

Translarna  was  generally  well  tolerated  at  both  dose  levels  in  our  Phase 2b  clinical  trial.  There  were  no  study 
discontinuations  due  to  adverse  events.  Most  treatment-emergent  adverse  events  were  mild  or  moderate  in  severity. 
Investigators’ attributions of drug-related adverse effects were generally similar across the placebo and Translarna arms. 
The  most  common  adverse  events  in  this  trial  were  vomiting  (46.6%  overall),  headache  (29.3%),  diarrhea  (24.1%), 
nasopharyngitis (20.7%), fever (19.0%), cough (19.0%) and upper abdominal pain (17.8%). These events were generally 
balanced across treatment arms and are typical of pediatric illnesses. Adverse events with at least a 10% incidence in any 
treatment arm that were seen with increased frequency from the placebo group to the Translarna 40 mg dose group to the 
Translarna 80 mg dose group were nausea (12.3% for placebo, 14.0% for the Translarna 40 mg group and 16.7% for the 
Translarna 80 mg group), abdominal pain (7.0% for placebo, 12.3% for the Translarna 40 mg group and 16.7% for the 
Translarna 80 mg group), pain in extremity (10.5% for placebo, 12.3% for the Translarna 40 mg group and 13.3% for the 
Translarna 80 mg group), flatulence (7.0% for placebo, 8.8% for the Translarna 40 mg group and 11.7% for the Translarna 
80 mg group) and nasal congestion (7.0% for placebo, 8.8% for the Translarna 40 mg group and 10.0% for the Translarna 
80 mg group). There were no serious adverse events observed during the trial that were considered possibly or probably 
related  to  Translarna.  Determination  of  relatedness  of  the  serious  adverse  event  to  Translarna  was  made  by  the  trial 
investigator, based on his or her judgment. 

Translarna  was  generally  well  tolerated  in  ACT  DMD.  There  were  two  study  discontinuations  due  to  adverse  events, 
including  one  in  the  Translarna  arm  (constipation)  and  one  in  the  placebo  arm  (disease  progression).  Most  treatment-
emergent adverse events were mild or moderate in severity. The most common adverse events in this trial were vomiting 
(20.4%  overall),  nasopharyngitis  (20.0%),  headache  (18.3%),  and  fall  (17.8%).  These  events  were  generally  balanced 
across treatment arms and are typical of pediatric illnesses and/or patients with DMD. Adverse events with at least a 10% 
incidence in either treatment arm that were seen with increased frequency from the placebo group to the Translarna 40 mg 
dose  group  were  vomiting  (18.3%  for  placebo,  23.6%  for  the  Translarna  40 mg  group),  nasopharyngitis  (19.1%  for 
placebo, 20.9% for the Translarna 40 mg group), fall (17.4% for placebo, 18.3% for the Translarna 40 mg group), cough 
(11.3% for placebo, 16.5% for the Translarna 40 mg group) diarrhea (8.7% for placebo, 17.4% for the Translarna 40 mg 
group), and pyrexia (10.4% for placebo, 13.9% for the Translarna 40 mg group). An overview of adverse events in this 
trial is shown in the table below. 

Overview of treatment-emergent adverse events in Phase 3 clinical trial (as-treated population) 

Parameter 
Patients with ≥1 adverse event 
Adverse events by severity 

Grade 1 (mild) 

Placebo 
N=115 

      Translarna       
40 mg group  
N=115 

All 
patients 
N=230 

101 (87.8)%   103 (89.6)%   204 (88.7)%

54 (47.0)%  

61 (53.0)%   115 (50.0)%

18 

 
 
 
 
 
 
 
 
 
 
     
 
  
 
 
 
  
 
 
 
  
  
  
    
    
   
  
Grade 2 (moderate) 
Grade 3 (severe) 
Grade 4 (life-threatening) 
Adverse events by relatedness 

Unrelated 
Unlikely 
Possible 
Probable 

Discontinuations due to adverse events 
Serious adverse events 
Deaths 

37 (32.2)%  
9 (7.8)%  
 —    

35 (30.4)%  
7 (6.1)%  
 —    

72 (31.3)%
16 (7.0)%
 —   

47 (40.9)%  
30 (26.1)%  
18 (15.7)%  
6 (5.2)%  
1 (0.9)%  
4 (3.5)%  
 —    

44 (38.3)%  
20 (17.4)%  
27 (23.5)%  
12 (10.4)%  
1 (0.9)%  
4 (3.5)%  
 —    

91 (39.6)%
50 (21.7)%
45 (19.6)%
18 (7.8)%
2 (0.9)%
8 (3.5)%
 —   

There  were  no  serious  adverse  events  observed  during  the  trial  that  were  considered  possibly  or  probably  related  to 
Translarna. Determination of relatedness of the serious adverse event to Translarna was made by the trial investigator, 
based on his or her judgment. 

Intent to Treat (ITT) Population.   The primary efficacy endpoint in ACT DMD was change in 6MWD from baseline to 
week 48. In the ITT population, a 15 meter benefit (p=0.213) was observed in the primary endpoint which did not meet 
statistical significance. 

Secondary endpoints in the trial included the proportion of patients with at least 10% worsening in 6MWD at week 48 of 
the trial compared to baseline, or 10% 6MWD worsening, and change in timed function tests of time to run/walk 10 meters, 
climb  four  stairs  and  descend  four  stairs.  The hazard ratio  for  Translarna versus placebo  was  0.75 (p=0.160) for 10% 
6MWD worsening. Benefits trended in favor of Translarna over placebo in the timed function tests in the ITT population, 
including observed results in time to run/walk 10 meters (1.2 seconds; p=0.117), time to climb four stairs (1.8 seconds; 
p=0.058), and time to descend four stairs (1.8 seconds; p=0.012). 

Additional  endpoints  included  the  NSAA  test  and  the  Pediatric  Outcomes  Data  Collection  Instrument,  or  PODCI,  a 
validated tool for measuring quality of life in pediatric patients with orthopedic conditions. These additional endpoints 
favored Translarna in the ITT population but did not meet statistical significance. 

Pre-Specified Analyses.   The statistical analysis plan submitted to the FDA for ACT DMD set forth pre-specified analyses 
of efficacy to be conducted, including subgroups of patients with baseline 6MWD less than 350 meters and patients with 
baseline 6MWD of greater than or equal to 300 and less than 400 meters, which we refer to as our key subgroups. 

The pre-specification of our key subgroups was scientifically justified based upon knowledge of the biology and natural 
history of the disease and the evolving understanding of the of the six minute walk test as used to assess DMD patients. 
We considered the pre-specified less than 350 meter baseline 6MWD population as a key subgroup based on the knowledge 
that 350 meters represents a transition point for patients towards a more rapid decline in walking ability as supported by 
analysis  from  our  Phase 2b  trial.  Furthermore,  we  considered  the  pre-specified  300  to  400  meter  baseline  6MWD 
population as a key subgroup based on an increasing understanding of the sensitivity limitations of the six minute walk 
test  as  an  endpoint  in  48-week  studies.  Natural  history  data  suggest  that  the  6MWT  may  not  be  the  optimal  tool  to 
demonstrate efficacy in patients with either a baseline 6MWD of less than 300 meters, as these patients have significant 
muscle loss as monitored by magnetic resonance spectroscopy and are at high risk for losing ambulation regardless of 
treatment, or in high walking patients, such as those with a baseline 6MWD at or greater than 400 meters, as these patients 
are likely to remain stable over a 48 week testing period. 

By  defining  these  key  subgroups,  we  thereby  also  defined  corresponding  subgroups  of  patients  with  baseline  6MWD 
greater than or equal to 350 meters, greater than or equal to 400 meters, and less than 300 meters. We also pre-specified a 
meta-analysis of the combined results from ACT DMD and the Phase 2b ambulatory decline phase patients. 

Pre-specified sub-group analysis.   We saw strong evidence of clinical benefit in the pre-specified subgroup of patients 
with baseline 6MWD between 300 and 400 meters. Specifically, we observed a benefit in Translarna-treated patients of 
47 meters (nominal p=0.007) in the 6MWT in this subgroup. This was consistent with an observed benefit of 49 meters 

19 

  
  
  
  
    
    
   
  
  
  
  
  
  
  
 
(nominal  p=0.026)  in  our  Phase 2b  clinical  trial  in  the  300  to  400  meters  baseline  6MWD  population.  We  also  saw 
clinically meaningful benefit for Translarna over placebo in each of the timed function tests, including observed results in 
time to run/walk 10 meters (2.1 seconds; nominal p=0.066), time to climb four stairs (3.6 seconds; nominal p=0.003), and 
time  to  descend  four  stairs  (4.3  seconds;  nominal  p<0.001).  The  hazard  ratio  for  Translarna  versus  placebo  was  0.79 
(nominal p=0.418) for 10% 6MWD worsening. In addition, a benefit of 4.5 points over placebo (nominal p=0.041) was 
observed in the NSAA test, which we believe is clinically meaningful. We believe that the benefits observed in this key 
pre-specified subgroup support the use of the 6MWT in the patients with a walking ability in the 300 to 400 meters range 
and the understanding that the reliability of the 6MWT over a 48 week period was limited at both the lower and upper 
ends of our 6MWD enrollment range. 

In the pre-specified subgroup of patients with baseline 6MWD less than 350 meters, we observed a benefit of 24 meters 
(nominal p=0.210) in favor of Translarna in the 6MWT. An analysis of the results from our Phase 2b clinical trial in the 
less  than  350  meters  baseline  6MWD  population,  defined  post-hoc,  demonstrated  a  68  meter  benefit  in  the  6MWT 
(nominal p=0.006). In the timed function tests for the subgroup of ACT DMD patients with baseline 6MWD less than 350 
meters, we observed benefits for Translarna over placebo in time to run/walk 10 meters (2.3 seconds; nominal p=0.033), 
time to climb four stairs (4.2 seconds; nominal p=0.019) and time to descend four stairs (4.0 seconds; nominal p=0.007). 

Typically, a trial result is statistically significant if the chance of it occurring when the treatment is like placebo is less than 
one in 20, resulting in a p-value of less than 0.05. A nominal p-value is the result of one particular comparison when more 
than  one  comparison  is  possible,  such  as  when  two  active  treatments  are  compared  to  placebo  or  when  two  or  more 
subgroups are analyzed. 

As described above, we believe the 6MWT lacks sensitivity to detect a clinical effect in patients with baseline less than 
300 meters in a 48-week trial. However, the timed function tests trended in favor of patients treated with Translarna with 
a baseline 6MWD below 300 meters, including observed benefit over placebo in time to run/walk 10 meters (2.5 seconds; 
nominal p=0.066), time to climb four stairs (2.4 seconds; nominal p=0.790), and time to descend four stairs (2.1 seconds; 
nominal p=0.595). We believe the positive trends in this population reflect that short muscle burst activity tests may be a 
better clinical measure for patients that are at a more advanced stage of disease progression. Consistent with the natural 
history of ambulatory DMD patients with 6MWD greater than 400 meters, which indicates stability in walking ability over 
a 48 week period, we observed no meaningful difference in 6MWT between patient groups. Similarly, we observed no 
meaningful difference in 6MWT between patient groups with baseline 6MWD greater than 350 meters. 

Pre-specified  meta-analysis.    The  meta-analysis  combined  efficacy  results  from  the  ACT  DMD  ITT  population  and 
Phase 2b ambulatory decline phase subgroup. The Phase 2b ambulatory decline phase group includes the patients from 
our randomized, double-blind, placebo controlled, Phase 2b clinical trial in patients with nmDMD who would have met 
the enrollment criteria of ACT DMD. 

Results from the meta-analysis showed a statistically significant 21 meter improvement in 6MWD (p = 0.015) favoring 
Translarna. 

Additionally,  the  meta-analysis  showed  statistically  significant  benefit  for  Translarna  over  placebo  across  each  timed 
function test including time to run/walk 10 meters (1.4 seconds; p=0.025), time to climb four stairs (1.6 seconds; p =0.018) 
and time to descend four stairs (2.0 seconds; p=0.004). The hazard ratio for Translarna versus placebo was 0.66 (p=0.023) 
for 10% 6MWD worsening. We believe that we are able to demonstrate a statistically significant outcome in the 6MWD 
in the meta-analysis, despite the significant variability in baseline 6MWD among patients in both ACT DMD and the 
Phase 2b trial’s ambulatory decline phase, due to the substantially larger patient population available in the pooled analysis. 

Retrospective Analysis.   We also looked back at the observed results in the meta-analysis for all patients with a baseline 
300 to 400 meter 6MWD from ACT DMD and the Phase 2b trial. The meta-analysis of these data demonstrated a 45 meter 
benefit (nominal p<0.001) in the 6MWT as well as clinically meaningful benefits across each secondary endpoint timed 
function test, including benefit over placebo in time to run/walk 10 meters (2.2 seconds; nominal p=0.008), time to climb 
four stairs (3.4 seconds; nominal p<0.001) and time to descend four stairs (4.3 seconds; nominal p<0.001). This meta-
analysis of patients with baseline 6MWD of 300 to 400 meters was not pre-specified and is defined post-hoc. 

20 

A retrospective analysis performed after unblinding trial results can result in the introduction of bias if the analysis is 
inappropriately tailored or influenced by knowledge of the data and actual results. In addition, nominal p-values cannot be 
compared to the benchmark p-value of 0.05 to determine statistical significance without being adjusted for the testing of 
multiple dose groups or analyses of subgroups. Because of these limitations, regulatory authorities typically give greatest 
weight to results from pre-specified analyses and adjusted p-values and less weight to results from post-hoc, retrospective 
analyses and nominal p-values. 

Statistical Considerations.   The pre-specified meta-analysis results, which favored Translarna in the 6MWT and each of 
the timed function tests, are considered statistically significant. In the pre-specified subgroups of ACT DMD patients with 
a baseline 6MWD less than 350 meters and 300 to 400 meters, the p-values for the 6MWT and each of the timed function 
tests  are  considered  nominal.  For  information  with  respect  to  the  use  of  nominal  p-values  and  post-hoc  analyses,  see 
Item 1A.  Risk  Factors,  “Subgroup,  retrospective,  post-hoc,  and  certain  statistical  analyses  may  not  be  reliable  and 
typically will not form the basis for regulatory approval.” 

Participation Criteria and Stratification.   Certain key inclusion criteria were specified in the ACT DMD trial protocol for 
enrollment: the patient had to be 7 through 16 years of age; at the screening visit the patient had to be able to walk no more 
than 80% of predicted 6MWD compared to healthy boys matched for age and height, but had to be able to walk at least 
150 meters during the 6MWT; and the patient must have used systemic corticosteroids for a minimum of six months prior 
to start of treatment. The ACT DMD trial protocol provided for the exclusion of patients from the trial if, among other 
things,  they  recently  used  systemic  aminoglycoside  antibiotics,  recently  initiated  or  changed  corticosteroid  therapy  or 
previously received Translarna treatment. Patients enrolled in ACT DMD underwent 48 weeks of blinded treatment prior 
to the final analysis and the randomization was stratified based on age (<9 years versus ≥9), baseline 6MWD (<350 versus 
≥350 meters), and duration of prior use of corticosteroids (<12 months versus ≥12 months). 

Study 045 

In  the  fourth  quarter  of  2018,  following  the  FDA’s  recommendation  to  collect  dystrophin  data  using  validated 
quantification methods, we initiated Study 045, a Phase 2 open label clinical study of 20 boys with nmDMD from ages 
two to seven, to evaluate the ability of ataluren to increase dystrophin protein levels in boys with nmDMD. Study 045 did 
not meet its pre-specified primary endpoint. Patients received baseline biopsies prior to the initiation of treatment and 
follow-up  biopsies  scheduled  at  40  weeks  following  the  start  of  treatment.  However,  certain  patients  were  delayed  in 
obtaining the final study muscle biopsies performed at our clinical trial site at the University of California, Los Angeles 
as a result of the COVID-19 pandemic. 8 of 20 patients were unable to undergo biopsies at week 40, and these patients 
had their second biopsies between 62 and 70 weeks of treatment. Full-length dystrophin levels were measured using both 
the Electrochemiluminescence, or ECL assay, as the primary endpoint and Immunohistochemistry, or IHC, assay as the 
secondary endpoint.  

The  ITT  population  included  the  20  patients  enrolled  in  the  study.  However,  one  subject  was  determined  to  be  non-
compliant,  as  he  only  took  half  of  the  study  drug,  and  one  subject  did  not  have  adequate  biopsy  samples  to  establish 
baseline levels. Therefore, 18 patients were compliant with the study drug and had evaluable biopsy samples. These 18 
patients are considered the evaluable population. 10 of these 18 patients had their second biopsy at week 40 and 8 had 
their second biopsy between weeks 62 and 70. Patient characteristics, including age and steroid use were consistent across 
both cohorts. 

Overall in the ITT population, there was an increase in dystrophin expression from baseline, on both ECL as the primary 
endpoint and IHC as the secondary endpoint, but these did not meet a p-value of <0.05. Nevertheless, when studying the 
18 patients in the evaluable cohort, we identified a greater increase in dystrophin expression, and this increase did reach a 
nominal p-value of 0.04 in the analysis of the IHC assay. Also, over 80% of the evaluable subjects demonstrated an increase 
in dystrophin expression. 8 patients in the evaluable population had longer treatment exposure, ranging from 62-70 weeks, 
and these 8 patients had markedly greater levels of dystrophin increase with an average of approximately 24% in the ECL 
assay. We believe that these results suggest that longer duration of treatment resulted in greater biological effect, which is 
consistent with the long-term Translarna treatment benefit we have previously reported from our other clinical studies and 
our international drug registry study for nmDMD patients receiving Translarna. 

21 

We also measured creatine kinase, or CK, levels of patients in Study 045 as an objective measure of muscle damage. 
Dystrophin acts as a shock absorber during a muscle contraction and would be expected to protect against muscle damage 
and therefore reduce CK levels. Consistent with an increase in the level of dystrophin, we observed a marked reduction of 
approximately 20% in creatine kinase and that longer treatment with Translarna was associated with a greater magnitude 
of biological effect. 

Strategic Pipeline Prioritizations 

In May 2023 and September 2023, we announced strategic pipeline prioritizations following reviews of our portfolio.  In 
connection  with  the  strategic  pipeline  prioritizations,  we  reduced  our  workforce  by  32%,  which  primarily  affected 
employees  in  the  United  States,  including  those  employees  involved  in  early-stage  research  and  gene  therapy 
manufacturing and associated selling, general and administrative functions. We substantially completed the reduction in 
workforce  in  January  2024.  We  also  decided  to  discontinue  our  preclinical  and  early  research  programs  for  our  gene 
therapy  platform,  which  included  programs  for  Friedreich  ataxia  and  Angelman  syndrome,  as  well  as  our  oncology 
platform, which included programs for unesbulin for the treatment of diffuse intrinsic pontine glioma and leiomyosarcoma. 

Multi-platform Discovery 

We continue to invest in our pre-clinical product pipeline by committing significant resources to research and development 
programs to provide access to best-in-class treatments for patients who have an unmet medical need.  

Our Approach 

We use multiple drug discovery platforms to discover and develop therapies to target diseases with high-unmet need. Our 
platforms  focus  on  identifying  small  molecules  that  intervene  in  pathways  required  for  RNA  processing  and  energy 
production. Careful control and manipulation of these processes allow us to address a wide range of deficiencies. 

Splicing 

Post-transcriptional control processes are the events that occur in a cell following the transcription of DNA into RNA. 
These processes regulate, for example, how long RNA molecules last in the cell, how exons in precursor messenger RNA, 
or pre-mRNA, molecules are spliced, and how efficiently mRNA molecules are translated to proteins. In the majority of 
human protein-encoding genes, the sequence encoding the mature mRNA transcript is not contiguous in the pre-mRNA 
but rather has intervening non-coding regions called introns that interrupt the coding sequences, called exons. These introns 
are removed from the final mRNA product by a process called splicing that also joins the exons together such that only 
the exons are retained in the mature mRNA. 

We use our splicing technology to identify molecules that modulate splicing of the pre-mRNA. Pre-mRNA splicing is a 
series of highly organized biochemical reactions. Approximately 94% of all human genes encode pre-mRNAs that undergo 
splicing. In addition, through splicing, one gene can often generate several mRNA products that include a different set of 
exons through a process called alternative splicing which results in mature mRNA that encodes different, related proteins. 
Splicing  can  be  therapeutically  targeted,  in  many  human  diseases,  including  SMA,  Huntington’s  disease,  muscular 
dystrophy and various forms of cancer. We have developed several high-throughput drug discovery technology platforms 
that  enable  us  to  identify  small  molecule  modifiers  of  pre-mRNA  splicing.  These  technologies  rely  on  sensitive 
quantification  of  pre-mRNA  isoforms  directly  in  human  cells  or  tissue  samples.  Using  this  technology,  we  have 
successfully identified orally bioavailable small molecules that correct splicing of SMN2 mRNA. An example of one of 
these molecules  is  Evrysdi, which was  approved  in  August 2020 by  the  FDA  for  the  treatment of SMA  in  adults  and 
children two months and older. Based on our knowledge of the mechanism of splicing and how small molecules interact 
with the cellular splicing machinery, we have identified additional small molecule drug candidates that modify splicing of 
pre-mRNA, promote inclusion of specific exons into mRNA, including pseudoexons, or force skipping of undesired exons 
from the mature mRNA. We believe that this technology is potentially widely applicable to a large number of target genes 
across many therapeutic areas. 

22 

Ferroptosis and Inflammation 

Energy production in cells is critical to their survival. On the other hand, processes that induce oxidative stress in cells can 
negatively impact them. Energy production takes place in a part of the cell called mitochondria. The mitochondria use the 
transport  of  electrons  via  chemical  reactions  called  redox  reactions  in  their  cell  membranes  to  produce  adenosine 
triphosphate, or ATP, which is the central energy molecule inside cells. This process of moving electrons to produce ATP 
is termed electron transfer or transport. The redox reactions, however, can also cause oxidative stress. We use our expertise 
in energy production via electron transfer chemical reactions and in oxidative stress to develop potentially first-in-class 
therapeutics for unmet medical needs. One area of our focus is on inherited mitochondrial diseases. Mitochondrial diseases 
often derive from defects in energy production and oxidative stress pathway. These diseases commonly result in severe 
neurological impairment and death at an early age. Through our screening processes, we have identified multiple drug 
targets which we are assessing in nonclinical studies with the aim of identifying additional product candidates to take into 
clinical development. Similar strategies potentially can be used for broader sets of diseases. We believe such approaches 
to these types of intractable diseases have the potential to lead to novel therapies to address areas of high unmet medical 
need. 

Our Collaborations, License Agreements and Funding Arrangements 

We  currently  have  ongoing  collaborations  with  Roche  and  the  SMA  Foundation  for  SMA,  a  license  agreement  with 
National Taiwan University, or  NTU,  for  Upstaza,  a  collaboration  and  license  agreement  with  Akcea  for Tegsedi  and 
Waylivra  and  a  license  agreement  with  Shiratori  Pharmaceutical  Co.,  Ltd.,  or  Shiratori,  relating  to  the  manufacturing 
processes and technology for sepiapterin. 

Roche and the SMA Foundation 

Overview.    In  November 2011,  we  entered  into  a  License  and  Collaboration  Agreement  with  Roche  and  the  SMA 
Foundation,  dated  as  of  November  23,  2011,  or  the  SMA  License  Agreement,  to  further  develop  and  commercialize 
compounds identified under our SMA sponsored research program with the SMA Foundation and to research other small 
molecule compounds with potential for therapeutic use in patients with SMA. The research term of this agreement was 
terminated effective December 31, 2014. The ongoing collaboration is governed by a joint steering committee consisting 
of an equal number of representatives of us, the SMA Foundation and Roche. We, the SMA Foundation and Roche have 
agreed  to  endeavor  to  make  decisions  by  consensus,  but  if  the  joint  steering  committee  cannot  reach  agreement  after 
following a specified decision resolution procedure, Roche’s decision will control. However, Roche may not exercise its 
final decision-making authority with respect to certain specified matters, including any decision that would increase our 
or  the  SMA  Foundation’s  obligations,  reduce  our  or  the  SMA  Foundation’s  rights,  expand  Roche’s  rights,  or  reduce 
Roche’s obligations under the license and collaboration agreement. 

Commercialization.   We have granted Roche worldwide exclusive licenses, with the right to grant sublicenses, to our 
patent rights and know-how with respect to such compounds and products. Roche is responsible for pursuing worldwide 
clinical development of compounds from the research program and has the exclusive right to develop and commercialize 
compounds from the collaboration. 

Payments and Contingent Payments.   Pursuant to the SMA License Agreement, Roche paid us an upfront non-refundable 
payment of $30.0 million. During the research term, which was terminated effective December 31, 2014, Roche provided 
us with funding, based on an agreed- upon full-time equivalent rate, for an agreed-upon number of full- time equivalent 
employees that we contributed to the research program. We are eligible to receive up to an aggregate of $135.0 million in 
payments if specified development and regulatory milestones are achieved and up to an aggregate of $325.0 million in 
payments if specified sales milestones are achieved. We are also entitled to tiered royalties ranging from 8% to 16% on 
worldwide net product sales of products developed pursuant to the collaboration. Roche’s obligation to pay us royalties 
will expire generally on a country-by- country basis at the latest of the expiration of the last-to-expire patent covering a 
product in the given country, the expiration of regulatory exclusivity for that product in such country or 10 years from the 
first commercial sale of that product in such country. However, the royalties payable to us may be decreased in certain 
circumstances. For example, the royalty rate in a particular country is reduced if the product is not protected by patents in 
that  country  and  no  longer  entitled  to  regulatory  exclusivity  in  that  country.  We  remain  responsible  for  making  any 

23 

payments to the SMA Foundation that may become due under our pre-existing sponsored research agreement with the 
SMA Foundation. 

As of December 31, 2023, we had recognized a total of $310.0 million in milestone payments and $341.8 million royalties 
on net sales pursuant to the SMA License Agreement. As of December 31, 2023, there are no remaining development and 
regulatory event milestones that we can receive. The remaining potential sales milestones as of December 31, 2023 are 
$150.0 million upon achievement of certain sales events. 

In October 2023, we entered into an Amended and Restated Royalty Purchase Agreement, or the A&R Royalty Purchase 
Agreement, with Royalty Pharma Investments 2019 ICAV, or Royalty Pharma, and, for the limited purposes set forth in 
the agreement, Royalty Pharma plc, which amends and restates in its entirety that certain Royalty Purchase Agreement 
dated as of July 17, 2020, or the Original Royalty Purchase Agreement, with RPI Intermediate Finance Trust, or RPI, and 
for  the  limited  purposes  set  forth  in  the  agreement,  Royalty  Pharma  PLC.    Pursuant  to  the  A&R  Royalty  Purchase 
Agreement, we have sold or agreed to sell to Royalty Pharma certain portions of our remaining retained right, title and 
interest in and to our right to receive sales-based royalty payments, or the Royalty, on worldwide net sales of Evrysdi and 
any other product developed pursuant to the SMA License Agreement under the SMA program (all such Royalty rights 
retained by us, are referred to as the Retained Royalty Rights, and all such Royalty rights that are sold to Royalty Pharma 
pursuant to the A&R Royalty Purchase Agreement, are referred to as the A&R Assigned Royalty Rights).  At closing, 
Royalty  Pharma  paid  us  $1.0  billion  in  cash  consideration  for  38.0447%  of  our  Retained  Royalty  Rights  (which  is  in 
addition to the 42.9330% assigned to Royalty Pharma in connection with the Original Royalty Purchase Agreement and 
referred to as the Original Assigned Royalty Rights, for a total of 80.9777% of the total Royalty) until such time as Royalty 
Pharma has received payments in respect of the Original Assigned Royalty Rights equal to $1.3 billion in the aggregate, 
and thereafter 66.6667% of the total Royalty.  In addition, we may sell to Royalty Pharma the remainder of our Retained 
Royalty Rights in exchange for an aggregate of $500.0 million in additional cash consideration after the closing of the 
A&R  Royalty  Purchase  Agreement,  less  royalties  received  in  respect  of  the  Retained  Royalty  Rights  put  to  Royalty 
Pharma, which will be payable by Royalty Pharma pursuant to five put options held by us that are exercisable at our option 
between January 1, 2024 and December 31, 2025.  If we exercise two or fewer of the put options, Royalty Pharma may 
exercise a call option during the period from and after January 1, 2026 until and including March 31, 2026 for up to 50% 
of the remainder of our Retained Royalty Rights less amounts exercised by us via our put options at a purchase price that 
is proportional to the purchase price of our unexercised put options. Royalty Pharma’s exercise of the call option would 
result in Royalty Pharma owning 90.4888% of the total Royalty until such time as Royalty Pharma has received payments 
in respect of the Original Assigned Royalty Rights equal to $1.3 billion in the aggregate, and thereafter 83.3333% of the 
total Royalty. 

Termination.   Unless terminated earlier, the SMA License Agreement will expire on the date when no royalty or other 
payment  obligations  are  or  will  become  due  under  the  agreement.  Roche’s  termination  rights  under  the  license  and 
collaboration agreement include the right to terminate the agreement at any time after November 22, 2013 on a product-
by-product and country-by-country basis upon three months’ notice before the launch of the applicable product or upon 
nine months’ notice thereafter; and the right to terminate the agreement in specified circumstances following a change of 
control of us. The license and collaboration agreement provides that we or Roche may terminate the agreement in the event 
of  an  uncured  breach  by  the  other  party  of  a  material  provision  of  the  agreement,  or  in  the  event  of  the  other  party’s 
bankruptcy or insolvency. Upon termination of the collaboration agreement by Roche for convenience or termination by 
us  as  a  result  of  Roche’s  breach,  bankruptcy,  change  of  control  or  patent  challenge,  we  have  the  right  to  assume  the 
development and commercialization of product candidates arising from the license and collaboration agreement. In that 
event, we may become obligated to pay royalties to Roche on sales of any such product. 

SMA Foundation 

Overview.   In June 2006, we entered into a sponsored research agreement with the SMA Foundation under which we and 
the SMA Foundation have collaborated in the research and preclinical development of small molecule therapeutics for 
SMA.  As  discussed  above,  we  are  also  collaborating  with  the  SMA  Foundation  and  Roche  to  further  develop  these 
compounds.  Pursuant  to  the  sponsored  research  agreement,  as  amended,  the  SMA  Foundation  provided  us  with 
$13.3 million in funding. The SMA Foundation is not obligated to provide any further funding under this agreement. 

24 

Continuing  financial  obligations.    We  may  become  obligated  to  pay  the  SMA  Foundation  single-digit  royalties  on 
worldwide net product sales of any collaboration product that we successfully develop and subsequently commercialize 
or, with respect to collaboration products we outlicense, including Evrysdi, a specified percentage of certain payments we 
receive from our licensee. As discussed above, we have outlicensed rights to Roche pursuant to a license and collaboration 
agreement. We are not obligated to make such payments unless and until annual sales of a collaboration product exceed a 
designated threshold. Since inception, the SMA Foundation has earned $52.5 million, $35.3 million which was paid and 
$17.2 million which was accrued as of December 31, 2023. We have reached our obligation to make such payments to the 
SMA Foundation of an aggregate of $52.5 million as of December 31, 2023. 

Reversion  rights.    In  specified  circumstances,  including  those  involving  our  decision  to  discontinue  development  or 
commercialization  of  a  collaboration  product,  our  uncured  failure  to  meet  agreed  timelines  or  those  that  might  arise 
following  our  change  of  control,  we  may  be  obligated  to  grant  the  SMA  Foundation  exclusive  or  non-exclusive 
sublicensable rights under our intellectual property, in certain collaboration products, among other rights, to assume the 
development  and  commercialization  of  such  collaboration  products  and  to  provide  the  SMA  Foundation  with  other 
transitional assistance, which we refer to as a reversion. In some such cases, we may be entitled to receive licensing fee 
payments from the SMA Foundation and single-digit royalties on sales of the applicable collaboration product, which 
amounts we collectively refer to as reversion payments. In other cases, the SMA Foundation is not required to make any 
payments to us in connection with the licenses it receives from us. 

Termination.   Unless terminated earlier, the sponsored research agreement will continue until the earliest of the SMA 
Foundation’s receipt of the repayment amount or, if there was a reversion, either our receipt of all reversion payments that 
the  SMA  Foundation  may  be  obligated  to  make  to  us  or,  if  the  SMA  Foundation  is  not  obligated  to  make  reversion 
payments, the expiration of the last-to-expire patent we licensed to the SMA Foundation in connection with such reversion. 
The  sponsored  research  agreement  provides  that  either  party  may  terminate  the  agreement  in  the  event  of  an  uncured 
material breach by the other party or in the event of the other party’s bankruptcy or insolvency. 

National Taiwan University 

Overview.  Pursuant  to  the  license  and  technology  transfer  agreement,  originally  entered  into  between  Agilis 
Biotherapeutics, Inc., or Agilis, NTU and Professor Wuh-Liang (Paul) Hwu, in December 2015, or the NTU Licensing 
Agreement, NTU granted to us an exclusive, perpetual license, with the right to grant sublicenses through all tiers, to 
research  and  use  the  intellectual  property,  data,  chemistry,  manufacturing  and  controls,  or  CMC,  records,  documents, 
confidential  information,  materials  and  know-how  pertaining  to  the  Research,  including  Upstaza  for  the  treatment  of 
AADC deficiency, under the NTU Collaboration Agreement (as defined below), or the Technology, and to develop, make, 
manufacture,  use,  sell,  import  and  market  the  Technology  and  any  other  products  made,  invented,  developed  or 
incorporated  by  or  with  the  Technology,  or  the  Licensed  Products.  Subject  to  any  regulatory  delays  or  issues,  we  are 
obligated  to  research,  use  and  develop  the  Technology  to  manufacture  Licensed  Products  by  December 23,  2025. 
Additionally, we are obligated to obtain marketing approval of Upstaza for the treatment of AADC deficiency, either by 
the FDA or by the EMA, by December 31, 2024. In July 2022, the EC approved Upstaza for the treatment of AADC 
deficiency for patients 18 months and older within the EEA, satisfying that obligation.  

Funding Obligations. NTU received a lump sum of $100,000 upon execution of the NTU Licensing Agreement, as well 
as $2.0 million milestones payments based on the achievement of certain clinical and regulatory milestones, including 
$1.2 million that became due and payable in July 2022 upon the EC’s approval of Upstaza for the treatment of AADC 
deficiency.  Additionally,  NTU  will  be  entitled  to  receive  contingent  payments  from  us  based  on  (i) annual  license 
maintenance fees, (ii) a low double-digit percentage royalty of annual net sales of Licensed Products, and (iii) a percentage 
of  sublicense  revenue,  ranging  from  low-twenties  to  mid-twenties.  The  annual  license  maintenance  fees  are  non-
refundable, but creditable against annual net sales payments. 

Intellectual Property. All intellectual property relating to the manufacture, production, assembly, use or sale of Technology 
and any Licensed Products derived thereof are owned by NTU. 

Termination. The NTU Licensing Agreement expires on December 23, 2035. Upon expiration, we will have a fully paid-
up, perpetual, royalty-free exclusive license to the Technology. We may terminate the NTU Licensing Agreement upon 

25 

60 days’ written notice to NTU in the event of (a) the failure of a pivotal clinical study, or serious adverse event in a 
clinical study, with respect to Upstaza for the treatment of AADC deficiency, that prevents continuing such clinical study 
under reasonable circumstances or (b) the rejection of a BLA with the FDA or an MAA with the EMA, or equivalent 
biologics approval application in another territory with respect to Upstaza for the treatment of AADC. In such termination 
event, we must pay $100,000 to NTU within 30 days of termination and NTU would retain all rights to the Technology. 
We may terminate the NTU Licensing Agreement for material breach by another party following a 30-day cure period. 
NTU  may  terminate  the  NTU  Licensing  Agreement  for  our  failure  to  pay  any  undisputed  license  fees  or  net  sales  or 
sublicensing royalty fees within the applicable deadline following a 30-day cure period. 

We are also a party to collaborative research agreements with NTU, or the NTU Collaboration Agreements, that govern 
the collaboration between us and NTU with respect to the research and clinical trials for AADC deficiency gene therapy. 
NTU is responsible for performing the research and clinical trials and we are responsible for providing related funding. 
As of December 31, 2023, an aggregate amount of $3.7 million in funding payments has been paid to NTU pursuant to 
the NTU Collaboration Agreements. 

Tegsedi and Waylivra 

Overview. PTC Therapeutics International Limited, our subsidiary, entered into a Collaboration and License Agreement, 
or the Tegsedi-Waylivra Agreement, dated August 1, 2018 by and between us and Akcea, for the commercialization by us 
of Tegsedi, Waylivra and products containing those compounds, which we refer to collectively as the Products, in countries 
in Latin America and the Caribbean, or the PTC Territory. We are responsible for all meetings, communications and other 
interactions with regulatory authorities in the PTC Territory. The activities of the parties pursuant to the Tegsedi-Waylivra 
Agreement is overseen by a Joint Steering Committee, composed of an equal number of representatives appointed by each 
of us and Akcea. 

Commercialization. Under the terms of the Tegsedi-Waylivra Agreement, Akcea has granted to us an exclusive right and 
license,  with  the  right  to  grant  certain  sublicenses,  under  Akcea’s  product-specific  intellectual  property  to  develop, 
manufacture and commercialize the Products in the PTC Territory. In addition, Akcea has granted to us a non-exclusive 
right and license, with the right to grant certain sublicenses, under Akcea’s core intellectual property and manufacturing 
intellectual property to develop, manufacture and commercialize the Products in the PTC Territory and to manufacture the 
Products  worldwide  in  accordance  with  a  supply  agreement  with  Akcea.  Akcea  has  in-licensed  certain  of  the  Akcea 
intellectual property from its parent company, Ionis. Each party has agreed not to, independently or with any third party, 
commercialize any competing oligonucleotide product in the PTC Territory for the same gene target as inotersen. 

Payments and Contingent Payments. We paid to Akcea an upfront licensing fee of $18.0 million, consisting of an initial 
payment of $12.0 million paid in connection with entering into the Tegsedi-Waylivra Agreement in August 2018, and a 
second payment of $6.0 million that was paid after Waylivra received regulatory approval from the EMA in May 2019. In 
addition, Akcea was eligible to receive milestone payments, on a Product-by-Product basis, of $4.0 million upon receipt 
of regulatory approval for a Product from ANVISA, subject to a maximum aggregate amount of $8.0 million for all such 
Products. We paid Akcea $4.0 million upon our receipt of marketing authorization from ANVISA in October 2019 for the 
treatment of stage 1 or stage 2 polyneuropathy in adult patients with hATTR amyloidosis in Brazil with Tegsedi and an 
additional $4.0 million upon our receipt of marketing authorization from ANVISA in August 2021 for the treatment of 
FCS. Akcea is also entitled to receive royalty payments in the mid-twenty percent range of net sales on a country-by-
country and Product-by-Product basis, commencing on the earlier to occur of (1) 12 months after the first commercial sale 
of such Product in Brazil or (2) the date when we, our affiliates or sublicensees have recognized revenue of $10.0 million 
or more in cumulative net sales for such Product in the PTC Territory. The royalty payments are subject to reduction in 
certain circumstances as set forth in the Tegsedi-Waylivra Agreement. 

Termination. The Tegsedi-Waylivra Agreement will continue until the expiration of the last to expire royalty term with 
respect to all Products in all countries in the PTC Territory. Either party may terminate the Tegsedi-Waylivra Agreement 
on written notice to the other party if such other party is in material breach of its obligations thereunder and has not cured 
such breach within 30 days after notice in the case of a payment breach or 60 days after notice in the case of any other 
breach. 

26 

Shiratori 

Overview. In connection with our acquisition of Censa Pharmaceuticals, Inc., or Censa, in May 2020, we became a party 
to a license agreement dated as of February 8, 2015, as amended, between Shiratori and Censa, or the Shiratori License 
Agreement. Pursuant to the Shiratori License Agreement, Shiratori granted Censa the sole and exclusive worldwide right 
and  license,  with  the  right  to  sublicense,  under  certain  licensed  know-how,  or  the  Licensed  Know-How,  and  licensed 
patents, or the Licensed Patents, relating to manufacturing processes and technology for sepiapterin, to research, have 
researched, develop, have developed, use, import, export, market, have marketed, offer for sale, sell and have sold, and 
otherwise  commercialize  any  final  pharmaceutical  product  in  finished  form  containing  sepiapterin  as  an  active 
pharmaceutical ingredient, including sepiapterin, collectively the Sepiapterin Products, covered by the Licensed Patents 
or using the Licensed Know-How in all countries and territories of the world outside of Japan, or the Sepiapterin Territory. 

Payments and Contingent Payments. Under the Shiratori License Agreement, we are obligated to pay to Shiratori a low 
single digit percentage of annual net sales of the Sepiapterin Products in each country in the Sepiapterin Territory until the 
expiration  of  the  last-to-expire  Licensed  Patent  controlled  by  Shiratori  covering  the  relevant  country  followed  by  an 
obligation to pay a reduced royalty rate for a specified period of time thereafter. We are also obligated to pay Shiratori 
certain regulatory and development milestones. 

Termination. Unless earlier terminated, the Shiratori License Agreement will continue in full force and effect on a country-
by-country and product-by-product basis until the obligation to pay royalties with respect to the sale of such Sepiapterin 
Product in such country expires. The parties may agree to mutually terminate the Shiratori License Agreement. Shiratori 
may elect to terminate the Shiratori License Agreement upon sixty days’ prior written notice to us in the event that we fail 
to (i) achieve regulatory approval for a Sepiapterin Product in either the United States or EU by February 8, 2026 or (ii) 
commercially launch a Sepiapterin Product in the United States or EU by February 8, 2027. We may elect to terminate the 
Shiratori License Agreement upon sixty days’ prior written notice to Shiratori. 

Our Ongoing Acquisition-Related Obligations 

From  time  to  time,  we  have  engaged  in  strategic  transactions  to  expand  and  diversify  our  product  pipeline,  including 
through the acquisition of assets or businesses. In connection with these acquisitions, we have entered into agreements 
through which we have ongoing obligations, including obligations to make contingent payments upon the achievement of 
certain development, regulatory and net sales milestones or upon a percentage of net sales of certain products. 

Complete Pharma Holdings, LLC 

On  April 20,  2017,  we  completed  our  acquisition  of  all  rights  to  Emflaza,  or  the  Emflaza  Transaction.  The  Emflaza 
Transaction was completed pursuant to an asset purchase agreement, dated March 15, 2017, as amended on April 20, 2017, 
or  the  Emflaza  Asset  Purchase  Agreement,  by  and  between  us  and  Marathon  Pharmaceuticals,  LLC  (now  known  as 
Complete Pharma Holdings, LLC), or Marathon. The assets acquired by us in the Emflaza Transaction include intellectual 
property rights related to Emflaza, inventories of Emflaza, and certain contractual rights related to Emflaza. We assumed 
certain liabilities and obligations in the Emflaza Transaction arising out of, or relating to, the assets acquired in the Emflaza 
Transaction. 

In addition to the upfront consideration paid to Marathon upon the closing of the Emflaza transaction, Marathon is entitled 
to receive contingent payments from us based on annual net sales of Emflaza, up to a specified aggregate maximum amount 
over  the  expected  commercial  life  of  the  asset,  subject  to  the  terms  and  conditions  of  the  Emflaza  Asset  Purchase 
Agreement. In 2022, we paid Marathon a single $50.0 million sales-based milestone in accordance with the Emflaza Asset 
Purchase Agreement. 

Agilis Biotherapeutics, Inc. 

On August 23, 2018, we completed our acquisition of Agilis pursuant to an Agreement and Plan of Merger, dated as of 
July 19, 2018, or the Agilis Merger Agreement, by and among us, Agility Merger Sub, Inc., a Delaware corporation and 

27 

our wholly owned, indirect subsidiary, Agilis and, solely in its capacity as the representative, agent and attorney-in-fact of 
the equityholders of Agilis, Shareholder Representative Services LLC, or the Merger. 

In addition to the upfront consideration paid to Agilis equityholders upon the closing of the Merger, Agilis equityholders 
may become entitled to receive contingent payments from us based on the achievement of certain development, regulatory 
and net sales milestones, as well as based upon a percentage of net sales of certain products.  

On April 29, 2020, we, certain of the former equity holders of Agilis, or the Participating Rightholders, and, for the limited 
purposes set forth in the agreement, Shareholder Representative Services LLC, entered into a Rights Exchange Agreement, 
or  the  Rights  Exchange  Agreement.  Pursuant  to  the  Right  Exchange  Agreement,  we  issued  2,821,176  shares  of  our 
common stock and paid $36.9 million, in the aggregate, to the Participating Rightholders in exchange for the cancellation 
and  forfeiture by  the Participating  Rightholders  of  their  rights  to receive certain milestone-based  contingent  payments 
under the Agilis Merger Agreement. 

As of December 31, 2023, we have paid former equity holders of Agilis a total of $52.4 million in connection with the 
achievement of certain milestone-based contingent payments under the Agilis Merger Agreement. In May 2023, as part of 
our strategic portfolio prioritization, we decided to discontinue our preclinical and early research programs for our gene 
therapy platform, which included programs for Friedreich ataxia and Angelman syndrome. As a result, we do not expect 
the milestones under the Agilis Merger Agreement related to Friedreich ataxia and Angelman syndrome to be achieved. 
In addition, we do not expect to pay royalties on annual net sales related to Friedreich ataxia and Angelman syndrome. 
Our outstanding obligations under the Agilis Merger Agreement related to Upstaza include obligations to pay up to an 
aggregate maximum amount of $20.0 million upon the achievement of certain development milestones, up to an aggregate 
maximum amount of $11.1 million upon the achievement of certain regulatory milestones, and up to a maximum aggregate 
amount of $50.0 million upon the achievement of certain net sales milestones, pursuant to the terms of the Agilis Merger 
Agreement.  

We  expect  to  pay  the  former  equity  holders  of  Agilis  $20.0  million  in  development  milestone  payments  upon  the 
acceptance for filing by the FDA of a BLA for Upstaza for the treatment of AADC deficiency, which we expect to occur 
in March 2024, and $4.5 million in regulatory milestone payments upon approval of the BLA from the FDA pursuant to 
the Agilis Merger Agreement. 

BioElectron Technology Corporation 

On  October 25,  2019,  we  completed  the  acquisition  of  substantially  all  of  the  assets  of  BioElectron  Technology 
Corporation, or BioElectron, pursuant to an Asset Purchase Agreement by and between the Company and BioElectron, 
dated October 1, 2019, or the BioElectron Asset Purchase Agreement. 

In addition to the upfront consideration paid to BioElectron upon the closing of the asset acquisition, subject to the terms 
and  conditions  of  the  BioElectron  Asset  Purchase Agreement,  BioElectron may become  entitled  to  receive  contingent 
milestone payments of up to $200.0 million (in cash or in shares of our common stock, as determined by us) from us based 
on the achievement of certain regulatory and net sales milestones. Subject to the terms and conditions of the BioElectron 
Asset Purchase Agreement, BioElectron may also become entitled to receive contingent payments based on a percentage 
of net sales of certain products. 

Censa Pharmaceuticals, Inc. 

On May 29, 2020, we acquired Censa pursuant to an Agreement and Plan of Merger, dated as of May 5, 2020, or the Censa 
Merger Agreement, by and among us, Hydro Merger Sub, Inc., our wholly owned, indirect subsidiary, and, solely in its 
capacity  as  the  representative,  agent  and  attorney-in-fact  of  the  securityholders  of  Censa,  Shareholder  Representative 
Services LLC, or the Censa Merger. 

In addition to the upfront consideration paid to the Censa securityholders upon the closing of the Censa Merger, pursuant 
to the Censa Merger Agreement, Censa securityholders will be entitled to receive contingent payments from us based on 
(i) the  achievement of  certain development  and regulatory milestones  up  to  an  aggregate  maximum amount  of $217.5 

28 

million for sepiapterin’s two most advanced programs and receipt of a priority review voucher from the FDA as set forth 
in the Censa Merger Agreement, (ii) $109 million in development and regulatory milestones for each additional indication 
of  sepiapterin,  (iii)  the  achievement  of  certain  net  sales  milestones  up  to  an  aggregate  maximum  amount  of  $160.0 
million, (iv)  a  percentage  of  annual  net  sales  during  specified  terms,  ranging  from  single  to  low  double  digits  of  the 
applicable net sales threshold amount, and (v) any sublicense fees paid to us in consideration of any sublicense of Censa’s 
intellectual property to commercialize sepiapterin, on a country-by-country basis, which contingent payment will equal to 
a mid-double digit percentage of any such sublicense fees. In February 2023, we completed enrollment of our Phase 3 
placebo-controlled clinical trial for sepiapterin for PKU.  In connection with this event and pursuant to the Censa Merger 
Agreement, we paid a $30.0 million development milestone to the former Censa securityholders. We elected to pay this 
milestone in the form of shares of our common stock, less certain cash payments. Pursuant to such election, we issued 
657,462 shares of our common stock and paid $0.4 million to former Censa securityholders. We expect to make payments 
to the former Censa securityholders of $65.0 million in the aggregate in cash upon the potential achievement in 2024 of 
regulatory milestones relating to sepiapterin pursuant to the Censa Merger Agreement. 

Intellectual Property 

Patents and trade secrets 

Our  success  depends  in  part  on  our  ability  to  obtain  and  maintain  proprietary  protection  for  our  product  candidates, 
technology  and  know-how,  to  operate  without  infringing  the  proprietary  rights  of  others  and  to  prevent  others  from 
infringing our proprietary rights. Our policy is to seek to protect our proprietary position by, among other methods, filing 
U.S. and certain ex-U.S. patent applications related to our proprietary technology, inventions and improvements that we 
believe  are  important  to  the  development  of  our  business,  where  patent  protection  is  available.  We  also  rely  on  trade 
secrets,  know-how,  continuing  technological  innovation  and  in-licensing  opportunities  to  develop  and  maintain  our 
proprietary position. 

As of January 31, 2024, our patent portfolio included a total of 138 active U.S. patents and 61 pending U.S. non-provisional 
patent  applications,  including  continuations  and  divisional  applications,  that  are  owned,  co-owned,  or  exclusively  in-
licensed.  Our patent portfolio also includes numerous International and ex-U.S. patents and patent applications. The patent 
portfolio includes patents and patent applications with claims including composition of matter, pharmaceutical formulation 
and  methods  of  use  of  our  commercial  products  including  ataluren,  the  active  ingredient  in  the  formulated  product 
Translarna, and risdiplam, the active ingredient in the formulated product Evrysdi. 

The patent rights relating to ataluren owned by us include 34 issued U.S. patents relating to composition of matter, methods 
of use, formulations, dosing regimens and methods of manufacture and multiple pending U.S. patent applications relating 
to methods of use, formulation, and dosing regimens. We do not license any material patent rights relating to ataluren to 
unaffiliated parties. The issued U.S. patents relating to composition of matter are currently scheduled to expire in April 
2024 and all U.S. patents that issue from U.S. patent applications arising from the composition of matter would also be 
expected to expire in April 2024. Issued U.S. patents relating to therapeutic methods of use are currently scheduled to 
expire in 2026 and 2027, including patent term adjustment. Our patent rights relating to ataluren include granted patents 
or pending counterpart patent applications in a number of other jurisdictions, including Canada, certain South American 
countries, Europe, certain Middle Eastern countries, certain African countries, certain Asian countries and certain Eurasian 
countries.  We  own  13  European  patents  relating  to  composition  of  matter,  uses,  dosing  regimens  and  methods  of 
manufacture of ataluren, as well as multiple pending European patent applications relating to composition of matter, uses 
and formulations. Granted European patents will expire in April 2024 for those patents drawn to composition of matter, in 
2026 and 2027 for those patents drawn to dosing regimen, and in 2027 for those patents drawn to the manufacturing process. 
Except as indicated above, the anticipated expiration dates referred to above are without regard to potential patent term 
extension, patent term adjustment or other marketing exclusivities that may be available to us. 

The patent rights relating to risdiplam co-owned by us and Roche include 7 issued U.S. patents relating to composition of 
matter, methods of use, and methods of manufacture and pending U.S. patent applications. We do not license any material 
patent rights relating to risdiplam to unaffiliated parties. The issued U.S. patents relating to composition of matter are 
currently scheduled to expire in 2033, 2035 and 2042. Our patent rights include granted patents or pending counterpart 
patent applications in a number of other jurisdictions, including Canada, certain South American countries, Europe, certain 

29 

Middle Eastern countries, certain African countries, certain Asian countries and certain Eurasian countries. We co-own 4 
European patents relating to composition of matter, and uses of risdiplam. The expiration dates of the granted European 
patents relating to composition of matter are currently scheduled to expire in 2033 and 2035. Except as indicated above, 
these anticipated expiration dates are without regard to potential patent term extension, patent term adjustment or other 
marketing exclusivities that may be available to us. 

The term of individual patents depends upon the legal term for patents in the countries in which they are obtained. In most 
countries, including the United States, the patent term is 20 years from the earliest filing date of a non-provisional patent 
application. In the United States, a patent’s term may, in certain cases, be lengthened by patent term adjustment, which 
compensates a patentee for administrative delays by the U.S. Patent and Trademark Office in examining and granting a 
patent, or may be shortened if a patent is terminally disclaimed over an earlier filed patent. The term of a U.S. patent that 
covers a drug, biological product or medical device approved pursuant to a pre-market approval, or PMA, may also be 
eligible for patent term extension when FDA approval is granted, provided statutory and regulatory requirements are met.  

Analogous patent term extension provisions are available in Europe and certain other ex-U.S. jurisdictions to extend the 
term of a patent that covers an approved drug. One means of patent term extension in Europe after EMA approval is based 
on  obtaining  a  Supplementary  Protection  Certificate,  or  SPC.  We have applied  for  SPCs  for  ataluren  in  all  applicable 
European countries in which we have a European patent and have obtained SPCs or expect to obtain SPCs in all applicable 
European countries. The maximum patent term extension provided by an SPC is a total of 5 years from the date of patent 
term expiration. For example, in jurisdictions where an SPC with maximum patent term extension has been granted, the 
ataluren composition of matter patent would be scheduled to expire in 2029. To the extent a marketing authorization in 
any particular jurisdiction is not or cannot be maintained, the granted patent may remain in force in that jurisdiction until 
its natural expiration date, although a granted SPC in that jurisdiction may be withdrawn.  To the extent an underlying 
granted  patent  may  be  invalidated  in  that  jurisdiction  prior  to  its  natural  expiration  date,  the  associated  SPC  will  be 
invalidated as well. In the future, if and when our product candidates receive approval by the FDA or other non-European 
ex-U.S. regulatory authorities, we expect to apply for patent term extensions on issued patents covering those products, 
depending upon the length of the clinical trials for each drug and other factors. 

We have no patents covering Emflaza or the approved use of Emflaza. See “Item 1. Business-Government Regulation” 
for further information regarding the exclusivity periods that we expect to rely on. 

We rely on orphan drug exclusivity in the EEA for Upstaza for the treatment of AADC deficiency. If Upstaza is approved 
in the United States, we expect to rely on the non-patent market exclusivity periods under the Orphan Drug Act and the 
BPCIA to commercialize Upstaza in the United States. If approved elsewhere, we expect to rely on orphan drug exclusivity 
in  other  countries  or  regions  where  such  exclusivity  is  available.  See  “Item  1.  Business-Government  Regulation”  for 
further information regarding the exclusivity periods that we expect to rely on.  

We may rely, in some circumstances, on trade secrets to protect our technology. However, trade secrets can be difficult to 
protect. We seek to protect our proprietary technology and processes, in part, using confidentiality agreements with our 
employees,  consultants,  scientific  advisors,  contractors  and  collaborators.  We  also  seek  to  preserve  the  integrity  and 
confidentiality of our data and trade secrets by maintaining physical security of our premises and physical and electronic 
security of our information technology systems. While we have confidence in these individuals, organizations and systems, 
such  agreements  or  security  measures  may  be  breached,  and  we  may  not  have  adequate  remedies  for  any  breach.  In 
addition, our trade secrets may otherwise become known or be independently discovered by competitors. To the extent 
that  our  employees,  former  employees,  consultants,  scientific  advisors,  contractors  or  collaborators  use  intellectual 
property owned by us or licensed to us by others in their work for us, trade secret disputes may arise.  If such disputes 
arise in the U.S., we may protect our trade secrets and pursue remedies available under federal statute using either the 
Economic Espionage Act of 1996 and/or the Defend Trade Secrets Act of 2016 and, if necessary, under state law using 
either the Uniform Trade Secrets Act or other State law available in the applicable venue.  If such disputes arise ex-US, 
we may protect our trade secrets and pursue remedies available under local or international law. 

30 

License agreements 

We are a party to a number of license agreements under which we license patents, patent applications and other intellectual 
property from third parties. We enter into these agreements to augment our proprietary intellectual property portfolio. The 
licensed  intellectual  property  covers  some  of  the  compounds  that  we  are  researching  and  developing,  some  post-
transcriptional control targets and some of the scientific processes that we use. These licenses impose various diligence 
and financial payment obligations on us. We expect to continue to enter into these types of license agreements in the future. 

We exclusively in-licensed know-how and materials related to the production and use of Upstaza.  For a further discussion 
of the material agreements relating to our in-licensing of Upstaza for the treatment of AADC deficiency, see “Item 1. 
Business-Our Collaborations,  License Agreements  and  Funding  Arrangements-National  Taiwan  University.”   We  also 
exclusively in-license or jointly own patent applications with claims directed to composition of matter, formulation and 
methods of use of other gene therapy products candidates currently in development. 

Manufacturing 

We do not currently own or operate functional manufacturing or distribution facilities for the production of clinical or 
commercial quantities of our products or product candidates or compounds that we are testing in our preclinical programs. 
We currently rely, and expect to continue to rely, on third parties for the manufacture, packaging, labeling and distribution 
of clinical and commercial supplies of our products or product candidates that we may develop, other than small amounts 
of compounds that we may synthesize ourselves for preclinical testing. We have personnel with manufacturing and quality 
experience to oversee our contract manufacturers. 

The active pharmaceutical ingredients in our products and product candidates are provided by third-parties. We currently 
rely on a single source for the production of some of our raw materials and we obtain our supply of the drug substance for 
Translarna from two third-party manufacturers. 

We engage two separate manufacturers to provide bulk drug product for Translarna. We have a relationship with three 
manufacturers that are capable of providing fill and finish services for our finished commercial and clinical Translarna 
product. 

We currently obtain our supplies of Translarna and most of our other products and product candidates from our third-party 
manufacturers pursuant to agreements that include specific supply timelines and volume expectations. If a manufacturer 
should become unavailable to us for any reason, we would seek to obtain supply from another manufacturer engaged by 
us for the applicable product or service. In the event that we were unable to procure the applicable supply from a validated 
manufacturer, we believe that there are a number of potential replacements for each of our outsourced services, however 
we likely would experience delays in our ability to supply Translarna to patients or in advancing our clinical trials while 
we identify and qualify replacement suppliers. 

We obtain our supply of the drug substance for Emflaza through a third-party manufacturer that is currently the only third-
party  manufacturer  qualified  to  provide  Emflaza  drug  substance  for  use  in  the  United  States.  All  of  our  drug  product 
manufacturing, processing and packaging needs for Emflaza tablet and suspension product are fulfilled pursuant to two 
different exclusive supply agreements assumed by us in connection with our acquisition of Emflaza. We expect to fulfill 
all of our requirements for Emflaza tablets as well as secondary packaging of pre-filled Emflaza oral suspension bottles 
pursuant to one of these agreements, which has an automatic renewal provision subject to the termination rights of each 
party. We expect to fulfill all of our requirements for Emflaza suspension product pursuant to the other agreement. We are 
obligated to pay to the manufacturer of the Emflaza suspension product royalty payments, on a quarterly basis, based on 
a percentage (ranging from low to middle-low double digits) of, or a fixed payment with respect to, our annual net sales 
of suspension product in the United States, subject to reduction in accordance with the terms of the agreement.  

If our drug substance provider or either of our drug product manufacturers was to be unable to provide drug substance or 
manufacture Emflaza product in sufficient quantities to meet projected demand, future sales could be adversely affected, 
which in turn could have a detrimental impact on our ability to maintain our marketing authorization in the United States 
and on our ability to commercialize Emflaza, which in turn would have a material adverse effect on our business, financial 

31 

results and results of operations. Further, Emflaza received a seven-year exclusive marketing period in the United States 
for its approved indications, commencing on the date of FDA approval, under the provisions of the Orphan Drug Act. 
Emflaza’s seven-year period of orphan drug exclusivity related to the treatment of DMD in patients five years and older 
expired in February 2024. Emflaza’s orphan drug exclusivity related to the treatment of DMD in patients two years of age 
to less than five expires in June 2026. As the holder of orphan exclusivity, we are required to assure the availability of 
sufficient quantities of Emflaza to meet the needs of patients. Failure to do so could result in loss of the drug’s remaining 
orphan exclusivity in the United States. 

Translarna and Emflaza are manufactured in reliable and reproducible synthetic processes. Our raw materials are not scarce 
and are readily available subject to supply chain disruptions. We currently rely on a single source for the production of 
some raw materials and switching to an alternative source could, in some instances, take time and could lead to delays in 
manufacturing. We maintain inventories for such materials such that any delays with raw materials will not affect or delay 
our manufacturing. No material shortages or delays of raw materials were encountered in 2023 and no manufacturing 
delays are currently expected in 2024. The chemistry is amenable to scale up and does not require unusual equipment in 
the manufacturing process. We expect to continue to develop drug candidates that can be produced cost-effectively at 
contract manufacturing facilities or internally, in the case of our gene therapy platform. 

We have agreements with third-party manufacturers for the long-term commercial supply of Translarna. In the event that 
we  are  unable  to  procure  supply  from  a  validated  manufacturer,  we  would  seek  to  identify  and  qualify  replacement 
suppliers, however this process would likely delay our ability to supply Translarna to patients or advance our clinical trials. 
We may be unable to conclude agreements for commercial or clinical supply of Translarna with third-party manufacturers, 
or we may be unable to do so on acceptable terms. 

We  currently  have  contracts  with  multiple  pharmacy  and  hospital  distributors  in  the  EU  that  distribute  Translarna  for 
limited commercial and EAP programs. We have engaged with third party logistic providers, or 3PLs, which distribute 
Translarna for the majority of our commercial and EAP programs on our behalf.  

We utilize  third parties  for  the  commercial  distribution of  Emflaza,  including  a  3PL  to warehouse Emflaza  as well  as 
specialty pharmacies to sell and distribute Emflaza to patients. The specialty pharmacies provide us with third-party call 
center  services  to  provide  patient  support  and  financial  services,  prescription  intake  and  distribution,  reimbursement 
adjudication, and ongoing compliance support. 

Pursuant to the Tegsedi-Waylivra Agreement, we have entered into a master supply agreement with Akcea whereby Akcea 
or its affiliates will manufacture and supply, or cause to be manufactured and supplied, Tegsedi and Waylivra in quantities 
sufficient  to  support  the  commercialization  of  Tegsedi  and  Waylivra  in  the  PTC  Territory.  This  is  currently  the  only 
manufacturing and supply agreement that we have entered into for the drug substance of Tegsedi and Waylivra. If the 
master supply agreement is terminated and we are unable to find an alternative third party contractor, we may encounter 
delays in manufacturing Tegsedi and Waylivra. 

We have a commercial manufacturing services agreement with MassBiologics of the University of Massachusetts Medical 
School, or MassBio, to provide sufficient quantities of our Upstaza program materials to meet anticipated clinical trial and 
commercial scale demands. If MassBio is unable to perform its obligations under the commercial manufacturing services 
agreement,  identifying  a  replacement  gene  therapy  manufacturer  would  likely  be  challenging  and  time-consuming. 
However, we believe that we have sufficient supply of Upstaza to meet our near term commercial needs in such an event.  

We  have  manufacturing  services  related  to  the  production  of  plasmid  deoxyribonucleic  acid,  or  DNA,  and  adeno-
associated  virus,  or  AAV,  vectors  for  gene  therapy  applications  for  external  customers  at  our  leased  biologics 
manufacturing and laboratory space located in Hopewell Township, New Jersey, or the Hopewell Facility. Performance 
obligations vary but may include manufacturing plasmid DNA and/or AAV vectors, material testing, stability studies, and 
other services related to material development. The transaction prices for these arrangements are fixed and include amounts 
stated in the contracts for each promised service. For the year ended December 31, 2023, we recognized $7.7 million of 
manufacturing revenue related to plasmid DNA and AAV vector production for external customers. No manufacturing 
revenue was recognized for the years ended December 31, 2022 and 2021. As of December 31, 2023, we had contract 
assets of $0.2 million and remaining performance obligations of $0.8 million related to the production of plasmid DNA 

32 

and AAV vectors for gene therapy applications for external customers. For the period ended December 31, 2022, we had 
remaining performance obligations of $1.4 million and no contracts assets related to plasmid DNA and AAV production 
for external customers. 

Manufacturers and suppliers of product candidates are subject to the FDA’s current Good Manufacturing Practices, or 
cGMP, requirements, and other rules and regulations prescribed by ex-U.S. regulatory authorities. We depend on our third-
party suppliers and manufacturers for continued compliance with cGMP requirements and applicable ex-U.S. standards. 

Commercial Matters 

Sales and marketing team 

Our  product  revenue  has  primarily  been  attributable  to  sales  of  Translarna  for  the  treatment  of  nmDMD  in  territories 
outside of the United States and to sales of Emflaza for treatment of DMD in the United States. We have employees across 
the globe, with the largest concentrations being in the United States, Latin America and Europe. 

In addition, in select territories, we have engaged full time consultants, marketing partners and distribution partners to 
assist  us  with  our  international  commercialization  efforts  for  our  products.  We  continue  to  evaluate  new  territories  to 
determine in which geographies we might, if approved, choose to commercialize our products ourselves and in which 
geographies we might choose to collaborate with third parties. We expect that our internal team and partnership network 
will continue to grow, as needed, to maximize access to patients. 

Customers 

During 2023, our product revenue was primarily attributable to Translarna for the treatment of nmDMD and to Emflaza 
for treatment of DMD. Translarna for the treatment of nmDMD was available on a commercial basis or via reimbursed 
EAP programs or similar styled programs in multiple territories outside of the United States. In some territories, orders for 
Translarna are placed directly with us and in other territories we have engaged with third-party distributors. As a result, 
orders for Translarna are generally received from hospital and retail pharmacies and, in some cases, one of our third-party 
partner distributors. Our third-party distributors act as intermediaries between us and end-users and do not typically stock 
significant quantities of Translarna. The ultimate payor for Translarna is typically a government authority or institution or 
a third-party health insurer. The payment terms are generally 30 to 90 days after receipt of products. 

Emflaza for treatment of DMD is available on a commercial basis throughout the United States. We utilize five specialty 
pharmacies to sell and distribute Emflaza to patients. The specialty pharmacies receive prescription orders for Emflaza 
directly from physicians and ship Emflaza directly to the end-user upon fulfillment of the order. As such, there is very 
little inventory of Emflaza stocked. The ultimate payor for Emflaza is typically a state health insurance program or a third-
party health insurer. The payment terms are generally 30 to 90 days after receipt of products. 

During 2023, two of our distributors each accounted for over 10% of our net product sales. Financial information about 
our net product revenues and other revenues generated in the principal geographic regions in which we operate and our 
long-lived assets is set forth in our financial statements and in Note 15, “Geographic Information” to our consolidated 
financial statements included in this Annual Report on Form 10-K. 

Translarna and Emflaza can generally only be returned if agreed upon in writing by us and the product is not opened nor 
in receipt by the final user, except in the case of quality issues associated with the product. Product is generally shipped 
when a specific patient is approved by the applicable government or insurer and an individual prescription has been written. 
The right of return is eliminated as a matter of course when the product is dispensed to patients. Other than in connection 
with our transition to a new third party distributor, we have never had a request for a return of a material amount of product 
for either Translarna or Emflaza. 

In some countries, orders for named patient sales may be for multiple months of therapy, which can lead to an unevenness 
in  orders  which  could  result  in  significant  fluctuations  in  quarterly  net  product  sales.  For  example,  almost  all  of  our 
Brazilian product revenue for Translarna is attributable to centralized group purchase orders through the Brazilian Ministry 

33 

of Health that are intended to cover multiple months of therapy. Similarly, Translarna orders placed through a distributor 
for the Ministry of Health of the Russian Federation are also intended to cover multiple months of therapy. Any fluctuations 
in quarterly net product sales in Brazil and Russia resulting from these centralized group purchase orders may also be 
exacerbated by any delays. 

Market Access Considerations 

Translarna for the treatment of nmDMD is currently available on a commercial basis in multiple countries outside of the 
United  States.  We  consider  our  products  to  be  commercially  available  when  we  are  permitted  to  market  treatment  to 
patients. 

Translarna  for  the  treatment  of  nmDMD  is  also  currently  available  through  EAP  or  similar  styled  programs  in  select 
countries  where  funded  named  patient  or  cohort  programs  exist,  both  within  the  EEA  and  in  other  territories.  These 
programs generally reference the EMA’s determinations with respect to our marketing authorization in the EEA. As of 
today, Translarna is available under EAP or similar styled programs in various countries outside of the United States. 
Generally, EAP programs allow for access to Translarna pursuant to a named patient program, under which a physician 
requests access to Translarna on behalf of the specific, or “named” patient or pursuant to a cohort program, which allows 
for a broader temporary authorization for use for nmDMD meeting the inclusion criteria. Our EAP programs are named 
patient or similar styled programs in all territories other than France, which is a cohort program. 

Our ability to make Translarna available via commercial or EAP programs or through similar styled programs is largely 
dependent upon our ability to maintain our marketing authorization in the EEA for Translarna for the treatment of nmDMD 
in ambulatory patients aged two years and older. The marketing authorization is subject to annual review and renewal by 
the EC following reassessment by the EMA. In September 2022, we submitted a Type II variation to the EMA to support 
conversion of the conditional marketing authorization for Translarna to a standard marketing authorization, which included 
a report on the placebo-controlled trial of Study 041 and data from the open-label extension as further described below. In 
February 2023, we also submitted an annual marketing authorization renewal request to the EMA. In September 2023, the 
Committee for Medicinal Products for Human Use, or CHMP, gave a negative opinion on the conversion of the conditional 
marketing authorization to full marketing authorization of Translarna for the treatment of nmDMD and a negative opinion 
on the renewal of the existing conditional marketing authorization of Translarna for the treatment of nmDMD. On January 
25, 2024, the CHMP issued a negative opinion for the renewal of the conditional marketing authorization following a re-
examination procedure. In accordance with EMA regulations, the EC has 67 days to adopt the opinion. If the EC adopts 
the negative opinion, Translarna would no longer have marketing authorization in the member states of the EEA. See 
“Item 1. Business-Global commercial footprint-Global DMD franchise” and “Risk Factors-Risks Related to Regulatory 
Approval of our Product and our Product Candidates” for further information regarding the marketing authorization in the 
EEA and related risks. 

Our future revenues from our products and any other product candidates we may develop, depends largely on our ability 
to obtain and maintain reimbursement from governments and third-party insurers. Each country in the EEA has its own 
pricing and reimbursement regulations and many countries in the EEA have other regulations related to the marketing and 
sale of pharmaceutical products in the applicable country. The pricing and reimbursement process varies from country to 
country and can take a substantial amount of time from initiation to completion. As a result, our commercial launches of 
products in the EEA has been and is expected to continue to be on a country-by-country basis and we generally will not 
be  able  to  commence  commercial  sales  of  our  products  pursuant  to  our  marketing  authorizations  in  the  EEA  in  any 
particular member state of the EEA until we conclude the applicable pricing and reimbursement negotiations and comply 
with any licensing, employment or related regulatory requirements in that country. The price that is approved by local 
governmental authorities pursuant to commercial pricing and reimbursement processes may be lower than the price for 
purchases of product in that country pursuant to a reimbursed early access program. 

In some instances, reimbursement may be subject to challenge, reduction or denial by the government and other payers. 
For example, in France, EAP programs and commercial sales of a product can begin while pricing and reimbursement 
rates are under discussion with the applicable government health programs. In the event that the negotiated price of the 
product is lower than the amount reimbursed for sales made prior to the conclusion of price negotiations, we may become 

34 

obligated  to  repay  such  excess  amount  to  the  applicable  government  health  program.  Such  retroactive  reimbursement 
would be made following the conclusion of price negotiations with the applicable government health authority. 

For Emflaza, which is approved in the United States, we are engaged in pricing, coverage and reimbursement discussions 
with third-party payors, such as state and federal governments, including Medicare and Medicaid, managed care providers, 
private commercial insurance plans and pharmacy benefit management plans. Decisions regarding the extent of coverage 
and the amount of reimbursement to be provided for Emflaza are made on a plan-by-plan, and in some cases, on a patient-
by-patient basis. Coverage and reimbursement decisions by third-party payors, including the processing and adjudication 
of  prescriptions,  may  vary  from  weeks  to  several months.  Certain  third-party  payors  routinely  impose  additional 
requirements before approving reimbursement of a prescription, including prior authorization and the requirement to try 
another therapy first. The specialty pharmacies we utilize provide patient services programs to support product access and, 
when eligible, out-of-pocket assistance. 

We have generated revenue from net sales of Upstaza for the treatment of AADC deficiency in the EEA since May 2022. 
Upstaza is approved for the treatment of AADC deficiency for patients 18 months and older within the EEA and the United 
Kingdom. Our future revenues from Upstaza depends largely on our ability to obtain and maintain reimbursement from 
governments and third-party insurers as described above. 

Tegsedi  for  the  treatment  of  hATTR  amyloidosis  and  Waylivra  for  the  treatment  of  FCS  are  currently  available  on  a 
commercial basis in multiple countries outside of the United States and we have the right to commercialize these products 
in the PTC Territory. We have received marketing authorization from ANVISA for Tegsedi for the treatment of stage 1 or 
stage 2 polyneuropathy in adult patients with hATTR amyloidosis in Brazil and Waylivra for the treatment of FCS and 
FPL in Brazil. We make commercial sales of Tegsedi for the treatment of hATTR amyloidosis in Brazil and Waylivra for 
the treatment of FCS and FPL in Brazil. The marketing authorizations of Tegsedi and Waylivra in Brazil are subject to 
renewal every five years. We have also made both Tegsedi and Waylivra available in certain countries within the PTC 
Territory through EAP Programs. Our ability to make Tegsedi and Waylivra available within the PTC Territory is largely 
dependent upon the maintenance of the marketing authorizations in the EU and the United States by the licensor. 

We record revenue net of estimated third party discounts and rebates. Allowances are recorded as a reduction of revenue 
at the time revenues from product sales are recognized. These allowances are adjusted to reflect known changes in factors 
and may impact such allowances in the quarter those changes are known. 

For important information regarding market access and pricing and reimbursement considerations see “Item 1. Business-
Government Regulation-Pharmaceutical Pricing and Reimbursement” and “Item 1A. Risk Factors-Risks Related to the 
Development  and  Commercialization  of  our  Product  and  our  Product  Candidates”  and  “-Risks  Related  to  Regulatory 
Approval of our Product and our Product Candidates”. 

Competition 

The biotechnology and pharmaceutical industries are characterized by rapidly advancing technologies, intense competition 
and  a  strong  emphasis  on  proprietary  products.  While  we  believe  that  our  technologies,  knowledge,  experience  and 
scientific resources provide us with competitive advantages, we face potential competition from many different sources, 
including  commercial  pharmaceutical  and  biotechnology  enterprises,  academic  institutions,  government  agencies  and 
private  and  public  research  institutions.  Any  product  candidates  that  we  successfully  develop  and  commercialize  will 
compete with existing therapies and new therapies that may become available in the future. 

Many of our competitors may have significantly greater financial resources and expertise in research and development, 
manufacturing,  preclinical  testing,  conducting  clinical  trials,  obtaining  regulatory  approvals  and  marketing  approved 
products  than  we  do.  These  competitors  also  compete  with  us  in  recruiting  and  retaining  qualified  scientific  and 
management personnel, as well as in acquiring technologies complementary to, or necessary for, our programs. Smaller 
or early stage companies may also prove to be significant competitors, particularly through collaborative arrangements 
with large and established companies. 

35 

Our commercial opportunity could be reduced or eliminated if our competitors develop and commercialize products that 
are safer, more effective, have fewer side effects, are more convenient or are less expensive than any products that we may 
develop. In addition, our ability to compete may be affected because in some cases insurers or other third-party payors 
seek to encourage the use of generic products. This may have the effect of making branded products less attractive, from 
a cost perspective, to buyers. 

The key  competitive  factors affecting  the  success of  our products  and  product  candidates  are  likely  to be  its  efficacy, 
safety,  convenience,  price  and  the  availability  of  coverage  and  reimbursement  from  government  and  other  third-party 
payors. 

The competition for our products and product candidates includes the following: 

•  Translarna for nmDMD. There is currently no marketed therapy for nmDMD, other than Translarna in the EEA. 
Santhera Pharmaceuticals has received approval of Agramee (vamorolone) in the United States for DMD patients 
ages 2 and up and in the EU and United Kingdom for patients ages 4 years and older. Sarepta Therapeutics has 
received approval of Elevidys for DMD patients 4 to 5 years of age with a confirmed mutation in the “DMD 
gene” in the United States (Accelerated Approval granted with Full Approval pending) and United Arab Emirates 
and Qatar. Sarepta Therapeutics has also received approval in the United States for two treatments (Exondys 51 
(eteplirsen) and Vyondys 53 (golodirsen)) addressing the underlying cause of disease for different mutations in 
the DMD gene. Additionally, the FDA granted accelerated approval to Viltepso (viltolarsen) from NS Pharma 
for the treatment of DMD in patients with exon 53 skipping and Sarepta (Casimersen (SRP 4045) for the treatment 
of DMD in patients with exon 45 skipping. Viltepso (viltolarsen) from NS Pharma is also approved in Japan. 
Other biopharmaceutical  companies  are developing  treatments  addressing  the underlying  cause  of disease  for 
different mutations in the DMD gene, including Dyne Therapeutics (DYNE-251), Wave Life Sciences (WVE-
N53), Daiichi Sankyo (DS-5141)), Nippon Shinyaku (Viltolarsen (NS-065/NCNP-01) and NS-089/NCNP-02)), 
and  Astellas  (AT-702).  Additionally,  other  pharmaceutical  companies  are  developing  micro  dystrophin  gene 
therapies for patients with DMD regardless of genotype, including Pfizer (PF-06939926) and Solid Biosciences 
(SGT-001). 

•  Emflaza for DMD. The FDA has not approved a corticosteroid specifically for DMD in the United States other 
than  Emflaza.  However,  prednisone/prednisolone,  which  is  not  approved  for  DMD  in  the  United  States,  is 
generically  available  and  has  been  prescribed  off  label  for  DMD  patients.  Santhera  has  received  approval  of 
Agramee (vamorolone), in the United States for DMD patients ages 2 and up and in the EU and United Kingdom 
for patients ages 4 years and older. With the expiration of Emflaza’s orphan exclusivity for treatment of DMD in 
patients five years and older in February 2024, we expect to face competition from generic versions of Emflaza 
for this indication. 

•  Upstaza.  Currently,  no  other  treatment  options  are  available  for  the  underlying  cause  of  AADC  deficiency. 

Additionally, we are not aware of any late-stage development product candidates for AADC deficiency. 

•  Waylivra for FCS. Ionis is developing Olezarsen for the treatment of FCS. 
•  Waylivra  for  FPL.  Waylivra  faces  competition  from  Myalept  (metreleptin)  produced  by  Cheisi 
Farmaceutica, Inc., which is currently approved in Brazil for use in generalized lipodystrophy patients. We are 
not aware of any late-stage development product candidates for FPL. 

•  Tegsedi.  Tegsedi  faces  competition  from  drugs  like  Onpattro  (patisiran)  which  was  launched  by  Alnylam 
Pharmaceuticals  in  the  United  States  in  2018  and  received  approval  in  Brazil  for  the  treatment  of  hATTR 
amyloidosis in 2020 as well as AMVUTTRA (vutrisiran) which Alnylam Pharmaceuticals received approval for 
in the United States and Brazil in 2022 for the treatment of the polyneuropathy of hATTR amyloidosis in adults. 
Vyndaqel (tafamids meglumine) and Vyndamax (tafamidis) are commercialized in the United States, EU and 
some  countries  in  Latin  America  by  Pfizer.  Other  companies  are  also  pursuing  product  candidates  for  the 
treatment  of  ATTR  Amyloidosis  with  polyneuropathy  including  BridgeBio  Pharma  (AG  10), Intellia 
Therapeutics (NTLA2001), Proclara Biosciences (NPT 189) and SOM Biotech (tolcapone). 

•  Evrysdi.  Evrysdi,  an  orally  bioavailable  treatment,  faces  competition  from  treatments  that  are  not  orally 
bioavailable,  including  Spinraza  (nusinersen),  a  drug  developed  by  Ionis  and  marketed  by  Biogen,  which  is 
approved to treat SMA and Zolgensma (onasemnogene abeparvovec), a gene therapy drug developed by AveXis, 
Inc., (acquired by Novartis in 2018), which is approved in the United States and Japan for the treatment of SMA 
in patients under 2 years of age and in Europe for babies and young children who weigh up to 21 kilograms. 

36 

Novartis is also developing OAV-101, an intrathecal administration of Zolgensma, for SMA patients ages ≥ 2 to 
< 18 years of age. Biogen is developing a higher dose regimen of nusinersen with potential for improved efficacy 
and evaluating an implantable medical device to enable subcutaneous delivery of nusinersen. Other companies 
are also pursuing product candidates for the treatment of SMA, including Scholar Rock (apitegromab, SRK-015), 
Biohaven (Taldefgrobep alfa), Roche Pharmaceuticals (RO-7204239/GYM-329), Biogen / Ionis (BIIB-115/ION-
306) and NMD Pharma (NMD-670). 

•  Sepiapterin for PKU. If approved, sepiapterin could face competition from Kuvan (sapropterin dihydrochloride), 
including  generic  versions,  and  Palynziq  (pegvaliase-pqpz),  each  of  which  is  approved  for  the  treatment  of 
PKU.   Other  companies  are  also  pursuing  product  candidates  for  the  treatment  of  PKU,  including  Jnana 
Therapeutics  (JNT-517)  and  SOM  Biotech  (SOM-1311).   Furthermore,  Sanofi  (SAR-444836)  and  Moderna 
(mRNA-3210) are developing gene therapy and mRNA product candidates for the treatment of PKU.  

•  PTC518 for Huntington’s disease. There are currently no disease-modifying therapies approved to delay the 
onset  or  slow  the  progression  of  Huntington  disease.  However,  uniQure  (AMT-130),  Roche  and  Ionis 
(tominersen), Skyhawk Therapeutics (SKY 0515), Vico Therapeutics (VO659) and Wave Life Sciences (WVE-
003) are all developing product candidates for treatment of Huntington disease.  

•  Utreloxastat for ALS. The current standard of care for ALS in the United States and around the world, is Rilutek 
(riluzole), which is currently available as a generic and other formulations.  Radicava (edaravone) and Relyvrio 
(AMX-0035) are the other relevant competitors.  Relyvrio is approved in the United States and Canada, while 
Radicava is approved in the United States, Japan, Korea, Canada, Switzerland, China, Indonesia and Thailand. 
Qualsody (tofersen) from Biogen and Ionis was also approved in the United States for the SOD-1 mutation. There 
are  multiple  other  late  stage  product  candidates  being  developed  for  the  treatment  of  ALS  including  Ionis 
(Jacifusen),  Clene  Nanomedicine  (CNM-Au8),  MediciNova  (Ibudilast),  AB  Science  (AB-1010  mastinib 
mesylate) and Prilenia Therapeutics (Pridopidine).  

•  Vatiquinone for Friedreich’s Ataxia. Skyclarys (omaveloxolone) from Biogen was approved in the United States 
and  the  EU.  There  are  two  assets  in  early  development:   LX-2006  (Lexeo/Frataxin  AAVrh10)  and  CTI-1601 
(Larimar Therapeutics). 

Government Regulation 

Government authorities in the United States, at the federal, state and local level, and in other countries extensively regulate, 
among other things, the research, development, testing, quality control, approval, manufacturing, labeling, post-approval 
monitoring and reporting, recordkeeping, packaging, promotion, storage, advertising, distribution, marketing and sales and 
export and import of biopharmaceutical products such as those we are developing and marketing. In addition, sponsors of 
biopharmaceutical  products  and  drug  products  participating  in  Medicaid  and  Medicare  are  required  to  comply  with 
mandatory  price  reporting,  discount,  and  rebate  requirements.  The  process  of  obtaining  regulatory  approvals  and  the 
subsequent compliance with appropriate federal, state, local and ex-U.S. statutes and regulations require the expenditure 
of substantial time and financial resources. If we do not comply with applicable requirements, we may be subject to civil 
penalties, suspension or withdrawal of regulatory approvals, product recalls, seizure of products, fined, the government 
may refuse to approve our marketing applications, supplemental applications, or allow us to manufacture or market our 
products,  we  may  be  criminally  prosecuted  and  we  may  be  debarred  or  excluded  from  participation  in  government 
healthcare  programs.  These  requirements  are  continually  evolving.  See  “Item  1A.  Risk  Factors-Risks  Related  to 
Regulatory Approval of our Product and our Product Candidates” for important information regarding some of the risks 
to our business arising as a result of government regulation. 

U.S. government regulation 

In the United States, the FDA regulates drugs and biologic products, including gene therapy products, under the Federal 
Food, Drug, and Cosmetic Act, or the FDCA, the Public Health Service Act, or the PHSA, and regulations and guidance 
implementing these laws. The FDCA, PHSA and their corresponding regulations govern, among other things, the testing, 
manufacturing, safety, efficacy, labeling, packaging, storage, record keeping, distribution, reporting, advertising and other 
promotional practices involving drugs and biologic products. Failure to comply with the applicable FDA requirements at 
any time pre- or post-approval may result in a delay of approval or administrative or judicial sanctions.  

37 

 
Regulatory requirements governing our business are also evolving. For example, the FDA has issued a growing body of 
guidance  documents  on  CMC,  clinical  investigations  and  other  areas  of  gene  therapy  development,  all  of  which  are 
intended to facilitate the industry’s development of gene therapy products. Moreover, the FDA also continually issues 
guidance documents that provide the FDA’s interpretation of its laws and regulations, as well as the FDA’s approach to 
scientific issues and questions.  While the FDA’s guidance is not binding, it does provide the FDA’s current interpretation 
and approach. 

The new drug and biologic approval process 

In the United States, an NDA is the vehicle through which the FDA approves a new pharmaceutical drug product for sale 
and marketing in the United States. A BLA is the vehicle through which the FDA approves a new biologic product for 
sale and marketing in the United States. 

To market a new drug or biologic product in the United States, a sponsor generally must undertake the following: 

• 

• 

• 

• 

• 

• 

• 

completion  of  nonclinical  laboratory  tests,  animal  studies  and  formulation  studies  under  the  FDA’s  Good 
Laboratory Practice, or GLP, regulations and other applicable laws or regulations; 
submission to the FDA of an investigational new drug application, or IND, for clinical testing, which must become 
effective before clinical trials may begin at United States clinical trial sites; 
approval by an independent Institutional Review Board, or IRB, and in the case of certain gene therapy studies, 
an Institutional Biosafety Committee, or IBC, prior to initiation and subject to continuing review; 
completion of adequate and well-controlled clinical trials to establish safety and efficacy, in the case of a drug 
product candidate, or safety purity, and potency, in the case of a biologic product candidate for its intended use, 
performed  in  accordance  with  Good  Clinical  Practices,  or  GCP,  and  the  International  Conference  on 
Harmonisation of Technical Requirements for Registration of Pharmaceuticals for Human Use, or ICH, E6 GCP 
guidelines.  Certain gene  therapy research must  also  be  conducted  in  accordance with the NIH Guidelines  for 
Research Involving Recombinant or Synthetic Nucleic Acid Molecules, or NIH Guidelines; 
development of manufacturing processes to ensure the product candidate’s identity, strength, quality, purity, and 
potency; 
submission and FDA acceptance of an NDA or BLA, and satisfactory completion of an FDA Advisory Committee 
meeting, if applicable; 
satisfactory completion of an FDA inspection or remote regulatory assessment of the manufacturing facility or 
facilities at which the product is produced to assess compliance with cGMPs, which require that the facilities, 
methods  and  controls  are  adequate  to  preserve  the  product’s  identity,  strength,  quality  and  purity,  as  well  as 
satisfactory  completion  of  an  FDA  inspection  or  remote  regulatory  assessment  of  selected  clinical  sites  and 
selected clinical investigators to determine GCP compliance; 

•  FDA review and approval of the NDA or BLA to permit commercial marketing for particular indications for use; 

• 

and 
compliance with any post approval requirements and commitments, including Risk Evaluation and Mitigation 
Strategies, or REMS, and post approval studies required by the FDA.  

Nonclinical Studies and IND Submission 

Nonclinical  tests  include  laboratory  evaluations  of  product  chemistry,  pharmacology,  stability,  toxicity  and  product 
formulation, as well as animal or other nonclinical studies to assess potential safety and efficacy. In order to begin clinical 
testing, a sponsor must submit an IND to the FDA, which includes, among other things, the results of the nonclinical tests, 
manufacturing information, analytical data, proposed clinical protocols, and any available clinical data or literature on the 
product candidate. Some nonclinical testing may continue after the IND is submitted. The IND must become effective 
before human clinical trials may begin. An IND will automatically become effective 30 days after receipt by the FDA, 
unless before that time the FDA raises concerns or questions about issues such as the conduct of the trials as outlined in 
the IND. In that case, the IND sponsor and the FDA must resolve any outstanding FDA concerns or questions before 
clinical trials can proceed. Clinical holds also may be imposed by the FDA at any time before or during trials due to safety 
concerns or non-compliance. 

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Clinical Trials 

Clinical trials involve the administration of an investigational product to human subjects under the supervision of qualified 
investigators. Clinical trials are conducted in accordance with protocols detailing, among other things, the objectives of 
the study, the parameters to be used in monitoring safety, the effectiveness criteria to be evaluated, and a statistical analysis 
plan. A protocol for each clinical trial and subsequent protocol amendments must be filed with the FDA as part of the IND. 
Sponsors will also be required to provide FDA with diversity action plans.  In accordance with GCP requirements, all 
research subjects or their legally authorized representatives must provide their informed consent in writing prior to their 
participation in a clinical trial. Each clinical trial must be reviewed and approved by an IRB and is subject to ongoing IRB 
monitoring. The IRB must approve the protocol, protocol amendments, the informed consent form, and communications 
to  study  subjects  before  a  study  commences  at  the  site.  An  IRB  considers  among  other  things,  whether  the  risks  to 
individuals participating in the trials are minimized and are reasonable in relation to anticipated benefits, and whether the 
planned  human  subject  protections  are  adequate.  The  IRB  must  continue  to  oversee  the  clinical  trial  while  it  is  being 
conducted. Special clinical trial ethical considerations also must be taken into account if a study involves children.  In the 
case of certain gene therapy studies, an IBC at the local level may also review and maintain oversight over the particular 
study, in addition to the IRB. If the product candidate is being investigated for multiple intended indications, separate 
INDs may also be required. Progress reports detailing the results of the clinical trials must be submitted at least annually 
to FDA and the IRB and more frequently if serious adverse events or other significant safety information is found. Certain 
reports may also be required to be submitted to the IBC. 

Additionally, some clinical trials are overseen by an independent group of qualified experts organized by the clinical trial 
sponsor,  known  as  a  data  safety  monitoring  board  or  committee.  This  group  regularly  reviews  accumulated  data  and 
advises the study sponsor regarding the continuing safety of the trial. This group may also review interim data to assess 
the continuing validity and scientific merit of the clinical trial. The data safety monitoring board receives special access to 
unblinded data during the clinical trial and may advise the sponsor to halt the clinical trial if it determined there is an 
unacceptable safety risk for subjects or on other grounds, such as no demonstration of efficacy. 

Information about certain clinical trials must be submitted within specific timeframes to the NIH to be publicly posted on 
the  Clinicaltrials.gov  website.  Sponsors  or  distributors  of  investigational  products  for  the  diagnosis,  monitoring,  or 
treatment  of  one  or  more  serious  disease  or  conditions  must  also  have  a  publicly  available  policy  on  evaluating  and 
responding to requests for expanded access. Investigators must also provide certain information to clinical trial sponsors 
to allow the sponsors to make certain financial disclosures to the FDA. 

The  manufacture  of  investigational  drugs  and  biologics  for  the  conduct  of  human  clinical  trials  is  subject  to  cGMP 
requirements.  Investigational  drugs  and  biologics  and  active  ingredients  and  therapeutic  substances  imported  into  the 
United States are also subject to regulation by the FDA. Further, the export of investigational products outside the United 
States is subject to regulatory requirements of the receiving country as well as U.S. export requirements under the FDCA. 

In general, for the purposes of NDA and BLA approval, human clinical trials typically are conducted in three sequential 
phases, but the phases may overlap, be divided, or be combined. Phase 1 clinical trials may be conducted in patients or 
healthy volunteers to evaluate the product’s safety, dosage tolerance, structure-activity relationships, mechanism of action, 
absorption, metabolism distribution, excretion, and pharmacokinetics and, if possible, seek to gain an early indication of 
its effectiveness. Phase 2 clinical trials usually involve controlled trials in a larger but still relatively small number of 
subjects from the relevant patient population to evaluate dosage tolerance and appropriate dosage; identify possible short-
term adverse effects and safety risks; and provide a preliminary evaluation of the efficacy of the drug or biologic product 
for specific indications.  Phase 3 clinical trials usually further evaluate clinical efficacy and test further for safety in an 
expanded patient population at geographically dispersed clinical trial sites, to generate enough data to provide statistically 
significant evidence of clinical efficacy and safety of the product candidate for approval. These trials are well-controlled 
and are intended to establish the overall risk- benefit profile of the product or product candidate and provide an adequate 
basis for physician labeling. Phase 3 clinical trials are usually larger, more time consuming, more complex and more costly 
than Phase 1 and Phase 2 clinical trials. The FDA typically requires that an NDA or BLA include data from two adequate 
and well-controlled clinical trials, but, in certain circumstances, approval may be based upon a single adequate and well-
controlled clinical trial plus confirmatory evidence or a single large multicenter trial without confirmatory evidence. In 
some  cases,  the  FDA  may  condition  approval  of  an NDA or  BLA on the  applicant’s  agreement  to conduct  additional 

39 

clinical trials to further assess the product’s safety and effectiveness after NDA or BLA approval and trails to ensure that 
population representative data is collected. Such post-approval trials are typically referred to as Phase 4 studies. The results 
of  Phase  4  studies  can  confirm  or  refute  the  effectiveness  of  a  product  candidate,  and  can  provide  important  safety 
information. 

Additional kinds of data may also help support a BLA or NDA, such as patient experience data and real world evidence. 
Real world evidence may also be used to assist in clinical trial design or support an NDA for already approved products. 
For genetically targeted populations and variant protein targeted products intended to address an unmet medical need in 
one or more patient subgroups with a serious or life threatening rare disease or condition, the FDA may allow a sponsor 
to rely upon data and information previously developed by the sponsor or for which the sponsor has a right of reference, 
that was submitted previously to support an approved application for a product that incorporates or utilizes the same or 
similar genetically targeted technology or a product that is the same or utilizes the same variant protein targeted drug as 
the product that is the subject of the application. More recently, a program was established whereby a platform technology 
that is incorporated within or utilized by an approved drug or biologic product may be designated as a platform technology, 
provided  that  certain  conditions  are  met,  in  which  case  development  and  approval  of  subsequent  products  using  such 
technology may be expedited. 

Concurrent with clinical trials, companies usually complete additional nonclinical studies and must also develop additional 
information about the physical characteristics of the drug or biologic product candidate as well as finalize a process for 
manufacturing the product candidate in commercial quantities in accordance with cGMP requirements. The manufacturing 
process must be capable of consistently producing quality batches of the product candidate and, among other requirements, 
the  sponsor  must  develop  methods  for  testing  the  identity,  strength,  quality,  potency  and  purity  of  the  final  biologic 
product. Additionally, appropriate packaging must be selected and tested and adequate stability studies must be conducted 
to demonstrate that the product candidate does not undergo unacceptable deterioration over its shelf life. 

Additional FDA Expedited Review and Approval Programs 

The FDA has various programs that are intended to expedite or simplify the process for the development and FDA review 
of certain products that are intended for the treatment of serious or life-threatening diseases or conditions, and demonstrate 
the potential to address unmet medical needs or present a significant improvement over existing therapy. The purpose of 
these programs is to provide important new therapeutics to patients earlier than under standard FDA review procedures.  

To be eligible for a Fast Track designation, the FDA must determine, based on the request of a sponsor, that a product 
candidate is intended to treat a serious or life-threatening disease or condition and demonstrates the potential to address an 
unmet  medical  need.  If  Fast  Track  designation  is  obtained,  sponsors  may  be  eligible  for  more  frequent  development 
meetings and correspondence with the FDA. In addition, the FDA may potentially initiate a rolling review of sections of 
an application before the application is complete. This ‘‘rolling review’’ is available if the applicant provides and the FDA 
approves a schedule for the remaining information. Applicable user fees must also be paid before the FDA will commence 
its review. In some cases, a Fast Track product may be eligible for accelerated approval or priority review. 

The FDA may give a priority review designation to product candidates that are intended to treat serious conditions and, if 
approved, would provide significant improvements in the safety or effectiveness of the treatment, diagnosis, or prevention 
of the serious condition. A priority review means that the goal for the FDA is to review an application within six months, 
rather than the standard review of ten months under current Prescription Drug User Fee Act, or PDUFA, guidelines. 

The  FDA’s  accelerated  approval  process  allows  for  potentially  faster  development  and  approval  of  certain  drugs  or 
biologic  products  intended  to  treat  serious  or  life-threatening  illnesses  that  provide  meaningful  therapeutic  benefit  to 
patients over existing treatments. Under the accelerated approval process, the adequate and well-controlled clinical trials 
conducted with the drug or biologic product establish that the drug or biologic product has an effect on a “surrogate” 
endpoint that is reasonably likely to predict clinical benefit or on the basis of an effect on a clinical endpoint other than 
survival or irreversible morbidity, that is reasonably likely to predict an effect on irreversible morbidity or mortality, taking 
into account the severity, rarity, or prevalence of the condition and availability or lack of alternative treatments. Drugs or 
biologic products approved through the accelerated approval process are subject to certain post-approval requirements, 
including completion of Phase 4 clinical trials to demonstrate clinical benefit.  By the date of approval of an accelerated 

40 

approval product, FDA must specify the conditions for the required post approval studies, including enrollment targets, 
the study protocol, milestones, and target completion dates.  FDA may also require that the confirmatory Phase 4 studies 
be commenced prior to FDA granting a product accelerated approval.  Reports on the progress of the required Phase 4 
confirmatory studies must be submitted to FDA every 180 days after approval. If the trials fail to verify the clinical benefit 
of  the  drug  or  biologics  product,  the  FDA  may  withdraw  approval  of  the  application  through  a  statutorily  defined 
streamlined process. Failure to conduct  the required Phase 4 confirmatory studies or to conduct such studies with due 
diligence, as well as failure to submit the required update reports can subject a sponsor to penalties.  Promotional materials 
for a drug or biologic approved under the accelerated approval pathway are subject to FDA prior review. 

Sponsors can also request designation of a product candidate as a ‘‘breakthrough therapy.’’ A breakthrough therapy is 
defined as a product that is intended, alone or in combination with one or more other products, to treat a serious or life-
threatening disease or condition, and preliminary clinical evidence indicates that the product may demonstrate substantial 
improvement over existing therapies on one or more clinically significant endpoints, such as substantial treatment effects 
observed early in clinical development. Products designated as breakthrough therapies are eligible for intensive guidance 
on an efficient development program beginning as early as Phase 1 trials, a commitment from the FDA to involve senior 
managers and experienced review staff in a proactive collaborative and cross-disciplinary review, rolling review, and the 
facilitation of cross-disciplinary review. 

Another expedited pathway is the Regenerative Medicine Advanced Therapy, or RMAT, designation. Qualifying products 
must be a cell therapy, therapeutic tissue engineering product, human cell and tissue product, or a combination of such 
products, and not a product solely regulated as a human cell and tissue product. The product must be intended to treat, 
modify, reverse, or cure a serious or life-threatening disease or condition, and preliminary clinical evidence must indicate 
that  the  product  has  the  potential  to  address  an  unmet  need  for  such  disease  or  condition.  Advantages  of  the  RMAT 
designation  include  all  the  benefits  of  the  Fast  Track  and  breakthrough  therapy  designation  programs,  including  early 
interactions with the FDA. These early interactions may be used to discuss potential surrogate or intermediate endpoints 
to support accelerated approval. 

Companion Diagnostics and Other Combination Products 

A drug or biologic product may be regulated as combination product if it is intended for use in conjunction with a medical 
device, such as a drug delivery device or in vitro diagnostic device, as further discussed below. In such cases, the use of 
the two products together (i.e., the drug/biological product and the device) must be shown to be safe and effective for the 
proposed intended use and the labeling of the two products must reflect their combined use. In some cases, the device 
component may require a separate premarket submission; for example, when the device component is intended for use 
with multiple drug products. Sponsors of clinical studies using investigational devices are required to comply with FDA’s 
investigational device exemption regulations. Once approved or cleared, the sponsor of the device component submission 
(or the combination product submission, if both components are covered by one premarket submission) would need to 
comply with FDA’s post-market device requirements, including establishment registration, device listing, device labeling, 
unique device identifier, quality system regulation, medical device reporting, and reporting of corrections and removals 
requirements. 

If  the  safety  or  effectiveness  of  a  drug  or  biologic  product  candidate  for  its  proposed  indication  is  dependent  on  the 
measurement or detection of specified biomarkers, the FDA may require the contemporaneous approval or clearance of 
an in vitro companion diagnostic device that measures such biomarkers, and require the labeling of both the drug/biological 
product  and  the  companion  diagnostic  to  including  instructions  for  use  of  the  two  products  together.    The  FDA  has 
explained  in  guidance  that  in  vitro  companion  diagnostic  devices  may  be  used  for  a  number  of  purposes,  including 
identifying  appropriate  subpopulations  for  treatment.  The  type  of  premarket  submission  required  for  a  companion 
diagnostic  device  will  depend  on  the  FDA  classification  of  the  device.  A  premarket  approval,  or  PMA,  application  is 
required for high risk devices classified as Class III; a 510(k) premarket notification is required for moderate risk devices 
classified as Class II; and a de novo request may be used for novel devices not previously classified by FDA that are low 
or moderate risk. The guidance states that the FDA generally will not approve a drug or biologic that is dependent upon 
the  use  of  a  companion  diagnostic  device  if  no  such  device  is  contemporaneously  FDA-approved  or  -cleared  for  the 
relevant indication. According to the guidance, however, the FDA may approve such a drug/biologic product without an 
approved/cleared companion diagnostic when the drug/ biologic “is intended to treat a serious or life-threatening condition 

41 

for  which  no  satisfactory  alternative  treatment  exists”  and  the  FDA  determines  that  the  benefits  from  the  use  of  the 
drug/biologic “are so pronounced as to outweigh the risks from the lack of an” approved/cleared companion diagnostic. 
Under these circumstances, the FDA expects that a companion diagnostic would be subsequently approved/cleared, and 
that the drug/biologic labeling would be revised “to stipulate the use of the” companion diagnostic device. The FDA would 
also consider whether additional protections, such as risk evaluation and mitigation strategies, or REMS, or post-approval 
requirements, are necessary. 

In  a  separate  guidance,  specific  to  DMD  and  related  dystrophinopathies,  the  FDA  has  stated  that  a  sponsor  should 
contemporaneously develop a companion diagnostic device in situations where (1) the safety or efficacy of the drug or 
biologic product “may be related to the patient’s specific dystrophin mutation or to another type of finding related to a 
biomarker,” and (2) a suitable companion diagnostic device is not currently available. However, given “the serious and 
life-threatening nature of dystrophinopathies and the lack of satisfactory alternative treatments that currently exist,” the 
guidance  further  states  that  the  FDA  may  approve  a  drug/biologic  “even  if  a  companion  diagnostic  device  is  not  yet 
approved or cleared, if the benefits are so pronounced as to outweigh the risks from the lack of an approved or cleared in 
vitro companion diagnostic device.”  During the review, the “FDA will determine the need for clearance or approval of 
the device.” The FDA guidance documents represent the FDA’s current thinking on a topic but do not establish legally 
enforceable responsibilities. 

FDA Approval Process 

Assuming successful completion of the required clinical testing, the results of the preclinical studies and of the clinical 
trials, together with other detailed information, including proposed labeling and information on the chemistry, manufacture 
and composition of the product, are submitted to the FDA in the form of an NDA or BLA requesting approval to market 
the product for one or more indications. In most cases, the NDA or BLA must be accompanied by a substantial user fee, 
though a waiver of such fees may be obtained under certain limited circumstances. Product candidates that are designated 
as orphan products are not subject to application user fees unless the application includes an indication other than the 
orphan indication. The user fees must be paid at the time of the first submission of the application, even if the application 
is being submitted on a rolling basis. The FDA has 60 days from its receipt of an NDA or BLA to determine whether the 
application will be accepted for filing based on the FDA’s threshold determination that it is sufficiently complete to permit 
a substantive review. 

If the FDA determines that the NDA or BLA is incomplete, the FDA may refuse to file the application. If the FDA refuses 
to  file  an  NDA  or  BLA,  the  applicant  may  refile  the  application  with  information  addressing  the  FDA  identified 
deficiencies,  which  refiling  would  be  subject  to  FDA  review  before  it  is  accepted  for  filing.  After  the  NDA  or  BLA 
submission is accepted for filing, the FDA reviews the NDA or BLA to determine, among other things, whether a product 
meets FDA’s approval standard and whether the product is being manufactured in accordance with cGMP to assure and 
preserve the product’s identity, strength, quality and purity. Under the goals and policies agreed to by the FDA under the 
PDUFA, the FDA has set the review goal of completing its review of 90% of all standard applications for new molecular 
entities and original BLAs within ten months of the 60 day filing date. Under the FDA’s priority review program, however, 
the FDA set a review goal of completing its review of 90% of all applications within 6 months of the 60 day filing date. 
The FDA does not always meet its PDUFA goal dates. The review process and the PDUFA goal date may be extended by 
additional  three-month  review  periods  whenever  the  FDA  requests  or  the  NDA  or  BLA  sponsor  otherwise  provides 
additional information or clarification regarding information already provided in the submission at any time during the 
review cycle.  

NDAs or BLAs or supplements to NDAs or BLAs for a new active ingredient, dosage form, dosage regimen, or route of 
administration, unless subject to the below requirement for molecularly targeted cancer products, must contain data to 
assess the safety and effectiveness of the product for the claimed indications in all relevant pediatric subpopulations and 
to support dosing and administration for each pediatric subpopulation for which the product is safe and effective. The FDA 
may, on its own initiative or at the request of the applicant, grant deferrals for submission of data or full or partial waivers. 
This requirement does not generally apply to products for an indication for which orphan designation has been granted. 
However, compliance may be required if approval is sought for other indications for which the product has not received 
orphan designation. 

42 

Product  candidates  intended  for  the  treatment  of  adult  cancer  which  are  directed  at  molecular  targets  that  the  FDA 
determines to be substantially relevant to the growth or progression of pediatric cancer, must submit, with the marketing 
application,  reports  from  molecularly  targeted  pediatric  cancer  investigations  designed  to  yield  clinically  meaningful 
pediatric study data, gathered using appropriate formulations for each applicable age group, to inform potential pediatric 
labeling. The FDA may, on its own initiative or at the request of the applicant, grant deferrals or waivers of some or all of 
this data, as above. Orphan products are not exempt from this requirement. 

The FDA will typically inspect or conduct an inspection or remote regulatory assessment of one or more clinical sites to 
assure compliance with GCP before approving an NDA or BLA. The FDA also will inspect or conduct a remote regulatory 
assessment of the facility or the facilities at which the product is manufactured before the NDA or BLA is approved. The 
FDA will not approve the product unless cGMP compliance is satisfactory.   

The  FDA  may  refer  applications  for  novel  drug  products  or  biologic  products  to  an  advisory  committee  for 
recommendation as to whether the application should be approved and under what conditions. Specifically, for a product 
candidate for which no active ingredient (including any ester or salt of active ingredients) has previously been approved 
by the FDA, the FDA must either refer that product candidate to an advisory committee or provide in an action letter, a 
summary of the reasons why the FDA did not refer the product candidate to an advisory committee. The FDA may also 
refer other product candidates to an advisory committee if FDA believes that the advisory committee’s expertise would be 
beneficial.  The  FDA  is  not  bound  by  the  recommendation  of  an  advisory  committee,  but  it  considers  such 
recommendations  carefully,  particularly  any  negative  recommendations  or  limitations,  when  making  drug  or  biologic 
product approval decisions. 

After evaluating the marketing application and all related information, including the advisory committee recommendation, 
if any, and inspection or remote regulatory assessment reports regarding the manufacturing facilities and clinical trial sites, 
the FDA may issue an approval letter, or, in some cases, a Complete Response Letter, or CRL. An approval letter authorizes 
commercial marketing of the product with specific prescribing information for specific indications.  A CRL indicates that 
the review cycle of the application is complete and the application is not ready for approval and describes all of the specific 
deficiencies that the FDA identified. A CRL generally contains a statement of specific conditions that must be met in order 
to secure final approval of the marketing application, and may require additional clinical or preclinical testing in order for 
the FDA to reconsider the application. The deficiencies identified may be minor, for example, requiring labeling changes; 
or  major,  for  example,  requiring  additional  clinical  trials.  If  a  CRL  is  issued,  the  applicant  may  either:  resubmit  the 
marketing application, addressing all of the deficiencies identified in the letter; withdraw the application; or request an 
opportunity for a hearing. The FDA has the goal of reviewing 90% of application resubmissions in either two or six months 
of the resubmission date, depending on the kind of resubmission. Even with submission of additional information, the 
FDA ultimately may decide that the application does not satisfy the regulatory criteria for approval. 

Additional regulation for gene therapy clinical trials 

In  addition  to  the  regulations  discussed  above,  there  are  a  number  of  additional  standards  that  apply  to  clinical  trials 
involving the use of gene therapy. The FDA has issued, and continues to issue, various guidance documents regarding the 
development and commercialization of gene therapies, which outline additional factors that the FDA will consider at each 
of the above stages of development and relate to, among other things: the proper preclinical and nonclinical assessment of 
gene  therapies;  the  design  and  conduct  of  clinical  trials,  the  CMC  information  that  should  be  included  in  an  IND 
application; the proper design of tests to measure product potency in support of an IND or BLA application; and long term 
patient and clinical study subject follow up and regulatory reporting. The FDA also issued guidance documents that address 
guidance specific to the development of gene therapy products for neurodegenerative diseases.  

Post-approval requirements 

After FDA approval of a product is obtained, we are required to comply with a number of post-approval requirements, 
including,  among  other  things,  establishment  registration  and  product  listing,  record-keeping  requirements,  reporting 
certain adverse reactions and production problems to the FDA, providing updated safety and efficacy information, and 
complying with requirements concerning advertising and promotional labeling. As a condition of approval of an NDA or 
BLA, the FDA may require the applicant to conduct additional clinical trials or other post market testing and surveillance 

43 

 
to  further  monitor  and  assess  the  product’s  safety  and  efficacy.  There  also  are  continuing  annual  program  user  fee 
requirements for approved products, though orphan products may receive exemptions if certain criteria are met. 

The FDA also has the authority to require a specific REMS to ensure that a product’s benefits outweigh its risks.  A REMS 
may be required to include various elements, such as a medication guide or patient package insert, a communication plan 
to educate healthcare providers of the product’s risks, limitations on who may prescribe or dispense the product, or other 
measures that the FDA deems necessary to assure the safe use of the drug. The FDA may also impose a REMS requirement 
on an approved product if the FDA determines, based on new safety information, that a REMS is necessary to ensure that 
the product’s benefits outweigh its risks. 

The  FDA  strictly  regulates  marketing,  labeling,  advertising  and  promotion  of  products  that  are  placed  on  the  market. 
Although physicians may prescribe a drug or biologic for off-label uses, manufacturers may only promote the product for 
the  approved  indications  and  in  accordance  with  the  approved  labeling.  All  statements  regarding  products  must  be 
consistent with the FDA approved label, must be truthful and non-misleading, and must be adequately substantiated with 
a  fair  balance  between  product  benefit  claims  and  risks,  among  other  requirements.    This  means,  for  example,  that  a 
manufacturer  cannot  make  claims  about  the  use  of  its  marketed  products  or  their  relative  benefits  compared  to  other 
treatments outside of their FDA approved indications and label and without adequate comparative studies, and it would 
not be able to discuss or provide information on off-label uses or safety benefits of such products in a promotional context.  
In 2023, the FDA took a few actions in the advertising and promotional spaces, including issuing a final rule and a guidance 
on risk and efficacy disclosures in direct to consumer advertising, and a guidance on communication of off-label scientific 
information about approved products. The FDA and other agencies actively enforce the laws and regulations prohibiting 
the promotion of off-label uses. Failure to comply with the laws and regulations governing advertising and promotion can 
have negative consequences, including FDA and other governmental authority enforcement actions.   

In addition, the distribution of prescription pharmaceutical product samples is subject to the Prescription Drug Marketing 
Act, or PDMA, in addition to state requirements.  Reports must also be submitted to FDA on sample distribution. The 
Drug  Supply  Chain  Security  Act,  or  DSCSA,  added  sections  in  the  FDCA  that  require  manufacturers,  repackagers, 
wholesale distributors, dispensers, and third-party logistics providers to take steps to identify and trace certain prescription 
drugs  and  biologics  to  protect  against  the  threats  of  counterfeit,  diverted,  stolen,  contaminated,  or  otherwise  harmful 
products in the supply chain. The DSCSA regulates the distribution of prescription pharmaceutical drugs and biologics, 
requiring  passage  of  documentation  to  track  and  trace  each  prescription  product  at  the  saleable  unit  level  through  the 
distribution  system.  This  documentation  must  be  transferred  electronically  and  must  enable  interoperable  electronic 
product  tracing  at  the  package  level  as  of  November  2023,  though  the  FDA  does  not  intend  to  take  action  to  enforce 
requirements for the interoperable, electronic, package level product tracing until November 27, 2024.   Products subject 
to the DSCSA must only be transferred to appropriately licensed purchasers. The DSCSA also requires manufacturers and 
repackagers to affix or imprint a unique product identifier on product packages in both a human-readable and on a machine-
readable data carrier. The DSCSA also establishes several requirements relating to the verification of product identifiers. 
Further,  under  this  legislation,  sponsors  have  product  investigation,  quarantine,  disposition,  and  notification 
responsibilities related to counterfeit, diverted, stolen, and intentionally adulterated products that would result in serious 
adverse health consequences or death to humans, as well as products that are the subject of fraudulent transactions or 
which are otherwise unfit for distribution such that they would be reasonably likely to result in serious health consequences 
or death.  

Also, quality control and manufacturing procedures must continue to conform to cGMPs after approval, including quality 
control and quality assurance and maintenance of records and documentation. Changes to the manufacturing process are 
strictly regulated and often require prior FDA approval or notification before being implemented. In 2023, the FDA issued 
a  guidance  specifically  on  demonstrating  product  comparability,  and  the  management  and  reporting  of  manufacturing 
changes for investigational and licensed cellular and gene therapy products. FDA regulations also require investigation 
and correction of any deviations from cGMP and specifications, and impose reporting and documentation requirements 
upon the sponsor and any third-party manufacturers that the sponsor may decide to use. 

Manufacturers  and  others  involved  in  the  manufacture  and  distribution  of  such  products  also  must  register  their 
establishments  with  the  FDA  and  certain  state  agencies,  and  provide  information  regarding  the  products  that  they 
manufacture.  The information that must be submitted to FDA regarding manufactured products was expanded through 

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the Coronavirus Aid, Relief, and Economic Security, or CARES, Act to include the volume of drugs produced during the 
prior year. 

Establishments may be subject to periodic, unannounced inspections or remote regulatory assessments by government 
authorities to ensure compliance with cGMP requirements and other laws. Accordingly, manufacturers must continue to 
expend time, money and effort in the area of production and quality control to maintain compliance with cGMP and other 
aspects of regulatory compliance. The FDA may take into account results of inspections performed by certain counterpart 
ex-U.S. regulatory agencies in assessing compliance cGMPs. The FDA has entered into international agreements with ex-
U.S. agencies, including in the EU, in order to facilitate this type of information sharing. 

Sponsors are further subject to various requirements related to FDA drug shortage and manufacturing volume reporting, 
supply  chain  security,  such  as  risk  management  plan  requirements,  and  the  promotion  of  supply  chain  redundancy.  
Legislation and executive actions have also been issued to encourage domestic manufacturing. 

Additional controls for biologics 

To help reduce the risk of the introduction of adventitious agents or of causing other adverse events with the use of biologic 
products, the PHSA emphasizes the importance of manufacturing control for products whose attributes cannot be precisely 
defined. The PHSA also provides authority to the FDA to immediately suspend licenses in situations where there exists a 
danger to public health, to prepare or procure products in the event of shortages and critical public health needs, and to 
authorize the creation and enforcement of regulations to prevent the introduction or spread of communicable diseases in 
the United States and between states. 

After a BLA is approved, the product may also be subject to official lot release as a condition of approval. As part of the 
manufacturing process, the manufacturer is required to perform certain tests on each lot of the product before it is released 
for distribution. If the product is subject to official release by the FDA, the manufacturer submits samples of each lot of 
product to the FDA together with a release protocol showing the results of all of the manufacturer’s tests performed on the 
lot. The FDA may also perform certain confirmatory tests on lots of some products before releasing the lots for distribution 
by the manufacturer.  In addition, the FDA conducts laboratory research related to the regulatory standards on the safety, 
purity, potency, and effectiveness of biological products. 

Orphan drug designation. 

We have received orphan drug designation from the FDA for Translarna for the treatment of nmDMD, Emflaza for the 
treatment of DMD, Upstaza for the treatment of AADC deficiency, Evrysdi for the treatment of SMA, vatiquinone for the 
treatment  of  Friedreich  ataxia,  utreloxastat  for  the  treatment  of  ALS  and  sepiapterin  for  the  treatment  of 
hyperphenylalaninemia, including hyperphenylalaninemia caused by PKU. The FDA may grant orphan drug designation 
to drugs and biologics intended to treat a “rare disease or condition,” which is defined as a disease or condition that affects 
fewer than 200,000 individuals in the United States, or more than 200,000 individuals in the United States and for which 
there is no reasonable expectation that the cost of developing and making available in the United States a product for this 
type of disease or condition will be recovered from sales in the United States for that product. Additionally, sponsors must 
present a plausible hypothesis for clinical superiority to obtain orphan designation if there is a product already approved 
by the FDA that that is considered by the FDA to be the same as the already approved product and is intended for the same 
indication. This hypothesis must be demonstrated to obtain orphan exclusivity. Orphan drug designation must be requested 
before submitting an application for marketing approval. Orphan drug designation does not convey any advantage in, or 
shorten the duration of, the regulatory review and approval process. Orphan drug designation can provide opportunities 
for grant funding towards clinical trial costs, tax advantages and FDA user-fee benefits. 

The FDA’s regulations provide flexibility in meeting approval standards for new therapies intended to treat persons with 
life-threatening and severely-debilitating illnesses, especially where no satisfactory alternative therapy exists, such that 
the FDA may exercise scientific judgment in determining the kind and quantity of data required for approval and during 
development programs.  Per guidance issued by the FDA in 2023 with respect to rare diseases, “[t]his flexibility extends 
from  the  early  stages  of  development  to  the  design  of  adequate  and  well-controlled  clinical  investigations  required  to 
demonstrate effectiveness to support marketing approval and to establish safety data needed for the intended use.” The 

45 

FDA  states  that  it  “is  committed  to  helping  sponsors  create  successful  drug  development  programs  that  address  the 
particular challenges posed by each disease….” 

If a product which has an orphan drug designation subsequently receives the first FDA approval for the indication for 
which it has such designation, the product is entitled to orphan drug exclusivity, which means the FDA may not approve 
any other application to market the same drug or biologic for the same indication for a period of seven years, except in 
limited circumstances, such as a showing of clinical superiority to the product with orphan exclusivity or the same drug or 
biologic  for  different  indications.  However,  competitors  may  receive  approval  of  different  drugs  or  biologics  for  the 
indications for which the orphan product has exclusivity.  

Notably, the exact scope of orphan drug exclusivity may be an evolving space. A 2021 judicial decision, Catalyst Pharms., 
Inc. v. Becerra, challenged and reversed an FDA decision on the scope of orphan product exclusivity for the drug, Firdapse.  
Under this decision, orphan drug exclusivity for Firdapse blocked approval of another company’s application for the same 
drug for the entire disease or condition for which orphan drug designation was granted, not just the disease or condition 
for which approval was received.  In a January 2023 Federal Register notice, however, the FDA stated that it intends to 
continue to apply its regulations tying the scope of orphan-drug exclusivity to the uses or indications for which a drug is 
approved.  The exact scope of orphan drug exclusivity will likely be an evolving area.  

Orphan product sameness decisions are also an evolving space. The FDA issued a final guidance document on how the 
agency will determine the “sameness” of gene therapy products. Pursuant to the guidance, “sameness” will depend on the 
products’ transgene expression, viral vectors groups and variants, and other product features that may have a therapeutic 
effect.  Generally,  minor  differences  between  gene  therapy  products  will  not  result  in  a  finding  that  two  products  are 
different. Any FDA sameness determinations could impact our ability to receive approval for our product candidates and 
to obtain or retain orphan drug exclusivity. 

Rare Pediatric Disease Voucher Program 

Under the FDCA, the FDA awards priority review vouchers to sponsors of rare pediatric disease products that meet certain 
criteria.  To  qualify,  the  rare  disease  must  be  serious  or  life-threatening  in  which  the  serious  or  life-threatening 
manifestations primarily affect individuals aged from birth to 18 years. Also, the product must contain no active ingredient 
(including any ester or salt of the active ingredient) that has been previously approved in any other application and the 
application  must  meet  certain  additional  qualifying  criteria,  including  eligibility  for  FDA  priority  review.  If  FDA 
determines that a product is for a rare pediatric disease and the qualifying application criteria are met, upon a sponsor’s 
request, FDA may award the sponsor a priority review voucher. This voucher may be redeemed to receive priority review 
(i.e., a review time of 6 months as compared to 10 months for standard review) of a subsequent marketing application for 
a  different  product.  Use  of  a  priority  review  voucher  is  subject  to  an  FDA  user  fee.  These  vouchers  are  transferable. 
Accordingly, sponsors may sell these vouchers for substantial sums of money. Vouchers may also be revoked by FDA 
under certain circumstances and sponsors of approved rare pediatric disease products must submit certain reports to FDA. 

Changes to the FDCA, however, have limited future pediatric priority review vouchers. Under the law’s sunset provision, 
the drug or biologic must be designated by FDA for a rare pediatric disease no later than September 30, 2024, and approved 
no later than September 30, 2026, unless the law is reauthorized by Congress. Accordingly, while Upstaza currently has a 
rare pediatric disease designation, if we cannot secure FDA BLA approval prior to September 30, 2026, we may not be 
able to receive the benefit of such designation. 

Hatch-Waxman Act for Drugs. 

Section 505 of the FDCA describes three types of drug marketing applications that may be submitted to the FDA to request 
marketing  authorization  for  a  new  drug.  A  Section  505(b)(1)  NDA  is  an  application  that  contains  full  reports  of 
investigations of safety and efficacy. A 505(b)(2) NDA is an application that contains full reports of investigations of 
safety and efficacy but where at least some of the information required for approval comes from investigations that were 
not conducted by or for the applicant and for which the applicant has not obtained the right of reference or use from the 
person by or for whom the investigations were conducted. This regulatory pathway enables the applicant to rely, in part, 
on  the  FDA’s  prior  findings  of  safety  and  efficacy  for  an  existing  product,  or  published  literature,  in  support  of  its 

46 

application. Section 505(j) establishes an abbreviated approval process for a generic version of approved drug products 
through  the  submission  of  an  Abbreviated  New  Drug  Application,  or  ANDA.  An  ANDA  provides  for  marketing  of  a 
generic  drug  product  that  generally  has  the  same  active  ingredients,  dosage  form,  strength,  route  of  administration, 
labeling, performance characteristics and intended use, among other things, to a previously approved product, called the 
reference listed drug. Certain differences, however, between the reference listed drug and ANDA product may be permitted 
pursuant to a suitability petition. Certain labeling differences may also be permitted if information in the reference listed 
drug’s  label  is  protected  by  patent  or  exclusivities.  ANDAs  are  termed  “abbreviated”  because  they  are  generally  not 
required  to  include  nonclinical  and  clinical  data  to  establish  safety  and  efficacy.  Instead,  generic  applications  must 
scientifically demonstrate that their product is bioequivalent to, or performs in the same manner as, the innovator drug 
through in vitro, in vivo, or other testing. The generic version must deliver the same amount of active ingredients to the 
site  of  action  in  the  same  amount  of  time  as  the  innovator  drug  and  can  often  be  substituted  by  pharmacists  under 
prescriptions written for the reference listed drug. In seeking approval for a drug through an NDA, applicants are required 
to list with the FDA each patent with claims that cover the applicant’s drug or a method of using the drug. Upon approval 
of a drug, each of the patents listed in the application for the drug is then published in the FDA’s list of Approved Drug 
Products with Therapeutic Equivalence Evaluations, commonly known as the Orange Book. Drugs listed in the Orange 
Book can, in turn, be cited by potential competitors in support of approval of an ANDA or 505(b)(2) NDA.   In an effort 
to  clarify  which  patents  must  be  listed  in  the  Orange  Book,  in  January  2021,  Congress  passed  the  Orange  Book 
Transparency Act of 2020, which largely codifies FDA’s existing practices into the FDCA. Listing patents in the Orange 
Book  that  do  not  qualify  for  listing  can  be  considered  to  be  anticompetitive  conduct  and,  in  2023,  the  Federal  Trade 
Commission sent letters to a number of companies with respect to certain patents that the agency asserted were improperly 
listed or inaccurate. 

Upon submission of an ANDA or 505(b)(2) NDA, an applicant must certify to the FDA that (1) no patent information has 
been submitted to the FDA; (2) such patent has expired; (3) the date on which such patent expires; or (4) such patent is 
invalid or will not be infringed upon by the manufacturer, use or sale of the drug product for which the application is 
submitted. The applicant may also elect to submit a “section viii” statement certifying that its proposed label does not 
contain (or carves out) any language regarding the patented method-of-use rather than certify to a listed method-of-use 
patent. Generally, the ANDA or 505(b)(2) NDA approval cannot be made effective until all listed patents have expired, 
except where the ANDA or 505(b)(2) NDA applicant challenges a listed patent through the last type of certification, also 
known as a paragraph IV certification. 

If the ANDA or 505(b)(2) NDA applicant has provided a paragraph IV certification to the FDA, the applicant must send 
notice  of  the  certification  to  the  NDA  and  patent  holders.  The  NDA  and  patent  holders  may  then  initiate  a  patent 
infringement lawsuit in response to the notice of the paragraph IV certification, in which case the FDA may not make an 
approval effective until the earlier of 30 months from the patent or application owner’s receipt of the notice of the paragraph 
IV certification, the expiration of the patent, when the infringement case concerning each such patent is favorably decided 
in  the  applicant’s  favor  or  settled,  or  such  shorter  or  longer  period  as  may  be  ordered  by  a  court.  This  prohibition  is 
generally referred to as the 30 month stay. In instances where an ANDA or 505(b)(2) NDA applicant files a paragraph IV 
certification, the NDA holder or patent owner(s) regularly take action to trigger the 30 month stay. Thus, approval of an 
ANDA  or  505(b)(2)  NDA  could  be  delayed  for  a  significant  period  of  time  depending  on  the  patent  certification  the 
applicant makes and the reference drug sponsor’s decision to initiate patent litigation. 

Exclusivity provisions under the FDCA can delay the submission or the approval of certain applications for competing 
products. The FDCA provides a five-year period of non-patent exclusivity within the United States to the first applicant 
to gain approval of an NDA for a new chemical entity. A drug is a new chemical entity if the FDA has not previously 
approved  any  other  new  drug  containing  the  same  active  moiety,  which  is  the  molecule  or  ion  responsible  for  the 
therapeutic activity of the drug substance. During the exclusivity period, the FDA generally may not accept for review an 
ANDA or a 505(b)(2) NDA submitted by another company that contains the new chemical entity. However, an ANDA or 
505(b)(2) NDA may be submitted after four years if it contains a certification of patent invalidity or non-infringement. 

The FDCA also provides a shorter three-year period of exclusivity for an NDA, 505(b)(2) NDA, or supplement to an 
existing NDA or 505(b)(2) NDA if new clinical investigations, other than bioavailability studies, that were conducted or 
sponsored by the applicant are deemed by the FDA to be essential to the approval of the application. Three-year exclusivity 
may be granted for example, for new indications, dosages, strengths or dosage forms of an existing drug. This three-year 

47 

exclusivity covers only the conditions of use associated with the new clinical investigations and, as a general matter, does 
not prohibit the FDA from approving ANDAs or 505(b)(2) NDAs for generic versions of the original, unmodified drug 
product.  Five-year  and  three-year  exclusivity  will  not  delay  the  submission  or  approval  of  a  full  NDA;  however,  an 
applicant submitting a full NDA would be required to conduct or obtain a right of reference to all of the preclinical studies 
and adequate and well-controlled clinical trials necessary to demonstrate safety and effectiveness. 

BPCIA Exclusivity 

The  2010  Patient  Protection  and  Affordable  Care  Act  included  the  BPCIA  as  a  subtitle.  The  BPCIA  established  a 
regulatory scheme authorizing the FDA to approve biosimilars and interchangeable biosimilars. The FDA has issued a 
number  of  guidance  documents  outlining  an  approach  to  review  and  approval  of  biosimilars,  including  guidance 
documents on the demonstration of interchangeability and the licensure of biosimilar and interchangeable products for 
fewer than all of the reference product’s licensed conditions of use. 

Under the BPCIA, a manufacturer may submit an application for licensure of a biologic product that is “biosimilar to” or 
“interchangeable with” a previously approved biological product or “reference product.” In order for the FDA to approve 
a biosimilar product, it must find that there is a high degree of similarity to the reference product, notwithstanding minor 
differences in clinically inactive components, and that there are no clinically meaningful differences between the reference 
product  and  proposed biosimilar  product  in  terms of safety, purity  and potency.  Biosimilarity  must be  shown  through 
analytical studies, animal studies, and at least one clinical trial, absent a waiver by the FDA. There must be no difference 
between the reference product and a biosimilar in mechanism of action, conditions of use, route of administration, dosage 
form, and strength. For the FDA to approve a biosimilar product as interchangeable with a reference product, the FDA 
must find that the biosimilar product can be expected to produce the same clinical results as the reference product, and (for 
products administered multiple times) that the biologic and the reference biologic may be switched after one has been 
previously administered without increasing safety risks or risks of diminished efficacy relative to exclusive use of the 
reference biologic. 

Under the BPCIA, an application for a biosimilar product may not be submitted to the FDA until four years following the 
date of approval of the reference product. The FDA may not approve a biosimilar product until 12 years from the date on 
which  the  reference  product  was  approved.  However,  certain  changes  and  supplements  to  an  approved  BLA,  and 
subsequent applications filed by the same sponsor, manufacturer, licensor, predecessor in interest, or other related entity 
do not qualify for the 12 year exclusivity period. Even if a product is considered to be a reference product eligible for 
exclusivity, another company could market a competing version of that product if the FDA approves a full BLA for such 
product  containing  the  sponsor’s  own  nonclinical  data  and  data  from  adequate  and  well-controlled  clinical  trials  to 
demonstrate  the  safety,  purity  and  potency  of  their  product.  The  BPCIA  also  created  certain  exclusivity  periods  for 
biosimilars approved as interchangeable products. 

The  BPCIA  also  includes  provisions  to  protect  reference  products  that  have  patent  protection.  The  biosimilar  product 
sponsor  and  reference  product  sponsor  may  exchange  certain  patent  and  product  information  for  the  purpose  of 
determining  whether  there  should  be  a  legal  patent  challenge.  Based  on  the  outcome  of  negotiations  surrounding  the 
exchanged information, the reference product sponsor may bring a patent infringement suit and injunction proceedings 
against  the  biosimilar  product  sponsor.  The  biosimilar  applicant  may  also  be  able  to  bring  an  action  for  declaratory 
judgment concerning the patent. 

The FDA maintains a publicly-available online database of licensed biological products, which is commonly referred to 
as the “Purple Book.”  The Purple Book lists product names, dates of licensure, and applicable periods of exclusivity.  
Further,  the  reference  product  sponsor  must  provide  patent  information  and  patent  expiry  dates  to  FDA  following  the 
exchange of patent information between biosimilar and reference product sponsors. This information is then published in 
the Purple Book. 

In an effort to increase competition in the drug and biologic product marketplace, Congress, the executive branch, and 
FDA have taken certain legislative and regulatory steps. For example, measures have been proposed and implemented to 
facilitate product importation. Moreover, the 2020 Further Consolidated Appropriations Act included provisions requiring 
that sponsors of approved drug and biologic products, including those subject to REMS, provide samples of the approved 

48 

products  to  persons  developing  505(b)(2)  NDA  or  ANDA  drug  products,  or  biosimilar  products  within  specified 
timeframes, in sufficient quantities, and on commercially reasonable market-based terms. Failure to do so can subject the 
approved product sponsor to civil actions, penalties, and responsibility for attorney’s fees and costs of the civil action. 
This same bill also includes provisions with respect to shared and separate REMS programs for reference and generic drug 
products. 

Patent Term Restoration 

If approved, drug and biologic products may also be eligible for periods of U.S. patent term restoration if an application 
is timely filed with the Patent and Trademark Office. If granted, patent term restoration extends the patent life of a single 
unexpired patent, that has not previously been extended, for a maximum of five years, and only those claims reading on 
the approved drug may be extended. The total patent life of the product with the extension also cannot exceed fourteen 
years from the product’s approval date. Subject to the prior limitations, the period of the extension is calculated by adding 
half of the time from the effective date of an IND to the initial submission of a complete marketing application, and all the 
time between the submission of the marketing application and its approval. This period may also be reduced by any time 
that the applicant did not act with due diligence. 

Pediatric exclusivity 

Pediatric exclusivity is another type of non-patent market exclusivity in the United States and, if granted, provides for the 
attachment of an additional six months of market protection to the term of any existing Orange Book- listed patents or 
regulatory exclusivity, including the non-patent exclusivity periods described above. This six-month exclusivity may be 
granted based on the voluntary completion of a pediatric study or studies in accordance with an FDA-issued “Written 
Request” for such a study or studies within a specified timeframe prior to the expiration of the underlying patent or market 
exclusivity period to be extended. 

Regulation outside the United States 

In  order  to  market  any  product  outside  of  the  United  States,  we  would  need  to  comply  with  numerous  and  varying 
regulatory requirements of other countries regarding safety and efficacy and governing, among other things, clinical trials, 
marketing authorization, commercial sales and distribution of our products. Whether or not we obtain FDA approval for a 
product, we would need to obtain the necessary approvals by the comparable regulatory authorities of ex-U.S. countries 
before we can commence clinical trials or marketing of the product in those countries. The approval process varies from 
country  to  country  and  can  involve  additional  product  testing  and  additional  administrative  review  periods.  The  time 
required to obtain approval in other countries might differ from and be longer than that required to obtain FDA approval. 
Regulatory approval in one country does not ensure regulatory approval in another, but a failure or delay in obtaining 
regulatory  approval  in  one  country  may  negatively  impact  the  regulatory  process  in  others.  And,  even  if  regulatory 
approval is granted, it may be withdrawn or limited under certain circumstances or post-approval requirements may be 
imposed  by  the  applicable  regulatory  authority.  Because  biologically  sourced  raw  materials  are  subject  to  unique 
contamination risks, their use may be restricted in some countries. 

Regulation in the European Union 

We  have  obtained  an  orphan  medicinal  product  designation  from  the  EC,  following  an  evaluation  by  the  EMA’s 
Committee for  Orphan  Medicinal  Products,  for  Translarna  for  the  treatment of nmDMD,  Upstaza for  the  treatment of 
AADC deficiency, Evrysdi for the treatment of SMA, vatiquinone for the treatment of Friedreich ataxia, utreloxastat for 
the  treatment  of  ALS  and  sepiapterin  for  the  treatment  of  patients  with  hyperphenylalaninemia,  including 
hyperphenylalaninemia caused by PKU. The EC can grant orphan medicinal product designation to products for which 
the sponsor can establish that it is intended for the diagnosis, prevention, or treatment of (1) a life-threatening or chronically 
debilitating condition affecting not more than five in 10,000 people in the EU, or (2) a life threatening, seriously debilitating 
or serious and chronic condition in the EU and that without incentives it is unlikely that sales of the drug in the EU would 
generate a sufficient return to justify the necessary investment. In addition, the sponsor must establish that there is no other 
satisfactory method approved in the EU of diagnosing, preventing or treating the condition, or if such a method exists, the 
proposed orphan drug will be of significant benefit to patients. Orphan drug designation is not a marketing authorization. 

49 

It is a designation that provides a number of benefits, including fee reductions, regulatory assistance, and, in the event of 
a  successful  application  for a  centralized EU  marketing authorization, 10 years of  EU  market  exclusivity.  During  this 
market exclusivity period, neither the EMA, nor the EC nor any EU member states can accept an application or grant a 
marketing authorization for a “similar medicinal product.” A “similar medicinal product” is defined as a medicinal product 
containing a similar active substance or substances as contained in an authorized orphan medicinal product, and which is 
intended for the same therapeutic indication. The market exclusivity period for the authorized therapeutic indication may 
be reduced to six years if, at the end of the fifth year, it is established that the orphan designation criteria are no longer 
met, including where it is shown that the product is sufficiently profitable not to justify maintenance of market exclusivity. 
In addition, a competing similar medicinal product may in limited circumstances be authorized prior to the expiration of 
the market exclusivity period, including if it is shown to be safer, more effective or otherwise clinically superior to our 
product. Our product candidates can lose orphan designation, and the related benefits, prior to us obtaining a marketing 
authorization if it is demonstrated that the orphan designation criteria are no longer met. 

The EC has conducted a review of the Orphan Drug Regulation together with the Paediatric Regulation.  The outcome of 
this review is intended to guide future legislative changes and shape the EU’s pharmaceutical strategy. 

Clinical Trial Developments. The structure and general regulation of clinical trials for both small molecule and biological 
medicines in the EU is similar to that in the United States. Separately, a new regulation, (EU) No.536/2014, regarding 
clinical trials of medicinal products for humans is included in the European regulatory framework and fills a series of 
regulatory gaps in the clinical trials regime through the creation of a uniform framework for the authorization of clinical 
trials by all interested EU member states with a single assessment of the results. The regulation (which came into effect 
on January 31, 2022) is thus intended to facilitate cross-border cooperation through streamlining of the rules on clinical 
trials across the EU, including by requiring the submission of clinical trial authorization applications via a new electronic 
EU portal. 

Alongside the portal, a database is being created that will contain information on clinical trial data. The information on the 
database will be publicly accessible unless the trial data’s confidentiality can be justified on the basis of protection of 
commercially confidential information, protection of personal data, protection of confidential communication between EU 
countries, or ensuring effective supervision of the conduct of clinical trials by EU countries. A sponsor of a trial conducted 
in the EU under the new regulation will be required to submit a summary of the clinical trial results to the EU database 
within  a  year  of  the  end  of  the  trial.  In  addition,  where  the  trial  was  intended  to  be  used  for  obtaining  a  marketing 
authorization (whether through the centralized procedure or via the national authorities), the applicant must submit the 
clinical study report within 30 days after the marketing authorization has been granted (or refused or withdrawn). 

Overview  of  application  process.    To  obtain  regulatory  approval  of  a  drug  under  the  EU’s  regulatory  systems  and 
authorization procedures, an applicant may submit marketing authorization applications under a centralized, decentralized, 
or national procedure. The centralized procedure is compulsory for certain medicinal products, including orphan medicinal 
products,  like  Translarna  for  the  treatment  of  nmDMD,  and  medicinal  products  produced  by  certain  biotechnological 
processes, and optional for certain other innovative products. The centralized procedure enables applicants to obtain a 
marketing  authorization  that  is  valid  in  all  EU  member  states  based  on  a  single  application.  Under  the  centralized 
procedure, the EMA’s Committee for Human Medicinal Products, or CHMP, is required to adopt an opinion on a valid 
application within 210 days, excluding clock stops, when additional written or oral information is to be provided by the 
applicant in response to questions.  

More  specifically,  on  day  120  of  the  procedure,  once  the  CHMP  has  received  the  preliminary  assessment  reports  and 
opinions  from  the  rapporteur  and  co-rapporteur,  it  prepares  a  list  of  potential  outstanding  issues,  referred  to  as  “other 
concerns” or “major objections”. These are sent to the applicant together with CHMP’s recommendation. In addition, in 
relation to advanced therapy medicinal products, or ATMPs, which are medicines based on genes, cells or tissues, the 
Committee for Advanced Therapies, or CAT, EMA’s committee responsible for assessing the quality, safety and efficacy 
of ATMPs, prepares a draft opinion on the ATMP application that is submitted to EMA before the CHMP adopts a final 
opinion on the marketing authorization of the applicable medicine. The CHMP can make one of two recommendations: 
(1) the  marketing  authorization  could  be  granted  provided  that  satisfactory  answers  are  given  to  the  “other  concerns” 
and/or “major objections” identified and that all conditions outlined in the list of outstanding issues are implemented and 
complied with; or (2) the product is not approvable since there are “major objections”. 

50 

Applicants have three months from the date of receiving the potential outstanding issues to respond to the CHMP, and can 
request  a  three-month  extension  if  necessary.  The  granting  of  a  marketing  authorization  will  depend  on  the 
recommendations  and  potential  major  objections  identified  by  the  CHMP  as  well  as  the  ability  of  the  applicant  to 
adequately respond to these findings. An accelerated assessment can be granted by the CHMP in exceptional cases, when 
a medicinal product is expected to be of a major public health interest, in particular from the viewpoint of therapeutic 
innovation.  In  this  circumstance,  the  EMA  ensures  that  the  opinion  of  the  CHMP  is  given  within  150 days.  After  the 
adoption of the CHMP opinion, a decision on the marketing authorization application must be adopted by the EC, after 
consulting the EU member states, which in total can take more than 60 days. 

An applicant for a marketing authorization application may request a re-examination in the event of a negative opinion, in 
connection with which CHMP appoints new rapporteurs. Within 60 days of receipt of the negative opinion, the applicant 
must submit a document explaining the basis for its request for re-examination. The CHMP has 60 days to consider the 
applicant’s request for re-examination. The applicant may request an oral explanation before the CHMP, which is routinely 
granted, following which CHMP will adopt a final opinion. The final opinion, whether positive or negative, is published 
by  the  CHMP  shortly  following  the  CHMP  meeting  at  which  the  oral  explanation  takes  place.  The  EMA  publishes  a 
European Public Assessment Report, or EPAR, for every medicine granted a central marketing authorization by the EC 
following an assessment by the CHMP. EPARs are full scientific assessment reports of medicines authorized by the EMA. 

Conditional marketing authorizations.   In specific circumstances, as with Translarna for the treatment of nmDMD, EU 
legislation  enables  applicants  to  obtain  a  marketing  authorization  on  a  conditional  basis  prior  to  obtaining  the 
comprehensive clinical data required for an application for a full marketing authorization. Such conditional approvals may 
be granted for products designated as orphan medicinal products, if (1) the benefit-risk balance of the product is positive, 
(2) it  is  likely  that  the  applicant  will  be  in a  position  to provide  the  required  comprehensive  clinical  trial  data,  (3) the 
product fulfills unmet medical needs, and (4) the benefit to public health of the immediate availability on the market of 
the medicinal product concerned outweighs the risk inherent in the fact that additional data are still required. A conditional 
marketing authorization may contain specific obligations to be fulfilled by the marketing authorization holder, including 
obligations  with  respect  to  the  completion  of  ongoing  or  new  studies,  and  with  respect  to  the  collection  of 
pharmacovigilance data. Conditional marketing authorizations are valid for one year, and may be renewed annually, if the 
benefit-risk balance remains positive, and after an assessment of the need for additional or modified conditions and/or 
specific obligations. The timelines for the centralized procedure described above also apply with respect to the review by 
the CHMP of applications for a conditional marketing authorization. The granting of a conditional marketing authorization 
will depend on the applicant’s ability to fulfill the conditions imposed within the agreed upon deadline. 

For  important  information  about  matters  that  may  adversely  affect  our  ability  to  renew  our  conditional  marketing 
authorization for Translarna, see “Item 1A. Risk Factors-Risks Related to the Development and Commercialization of our 
Product and our Product Candidates.” 

Variations  to  conditional  marketing  authorizations.    After  the  granting  of  a  conditional  marketing  authorization,  the 
marketing authorization holder may submit an application to vary the conditional marketing authorization under a variation 
procedure. In the case of the introduction of an additional therapeutic indication, the timeframe for the variation procedure 
for the initial assessment of the dossier is generally 90 days (plus up to 20 days for validation). 

However, in the framework of a variation application assessment procedure, the EMA may send one or more requests for 
supplementary information to the marketing authorization holder, requiring that additional information be provided by the 
marketing authorization holder to support its variation application. Such supplementary requests will be sent together with 
a  timetable  stating  the  date  by  when  the  marketing  authorization  holder  must  submit  the  requested  data  and,  where 
appropriate, the extended evaluation period to be applied to such variation procedure. The 90-day variation procedure may 
be suspended for up to three months for the marketing authorization holder to submit its responses to such supplementary 
requests. The marketing authorization holder will be notified of the outcome of the CHMP’s assessment of the variation 
procedure within 15 days from the adoption of the CHMP opinion. If unfavorable, the CHMP opinion may be subject to a 
re-examination procedure upon the marketing authorization holder’s request. This may imply an additional minimum two-
month procedure. If the CHMP opinion is favorable, the EC will usually vary the marketing authorization to introduce the 
additional therapeutic indication within approximately two months from the receipt of the final CHMP opinion. 

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Exceptional Circumstances. Similarly, certain of our product candidates may be eligible for a marketing authorization 
under  exceptional  circumstances.  Such  an  authorization  may  be  granted  where  the  applicant  can  demonstrate  in  its 
application that it is unable to provide comprehensive data on efficacy and safety under normal conditions of use, because: 
1)  the  indications  for  which  the  product  in  question  is  intended  are  encountered  so  rarely  that  the  applicant  cannot 
reasonably be expected to provide comprehensive evidence; 2) in the present state of scientific knowledge, comprehensive 
information cannot be provided; or 3) it would be contrary to generally accepted principles of medical ethics to collect 
such  information.  Authorizations  under  exceptional  circumstances  are  annually  reassessed  and  granted  subject  to  a 
requirement for the applicant to implement certain procedures, in particular, competent authority notification in the event 
of any safety issue. After 5 years, the authorization is renewed under exceptional circumstances for an unlimited period, 
unless  the  EMA  decides,  on  justified  grounds  relating  to  pharmacovigilance,  to  proceed  with  one  additional  five-year 
renewal.  A marketing authorization under exceptional circumstances will not be granted when a conditional marketing 
authorization is more appropriate.  Orphan products are further eligible for approval under exceptional circumstances only 
if the criteria considered for the approval under exceptional circumstances are fulfilled. 

Additional requirements and considerations.   Prior to obtaining a marketing authorization in the EU, applicants have to 
demonstrate compliance with all measures included in an EMA-approved Pediatric Investigation Plan, or PIP, covering 
all subsets of the pediatric population, unless the EMA has granted (1) a product-specific waiver, (2) a class waiver, or 
(3) a deferral for one or more of the measures included in the PIP. In the case of orphan medicinal products, completion 
of an approved PIP can result in an extension of the aforementioned market exclusivity period from ten to twelve years. 

In the EU there is also a procedure which allows member states to authorize the distribution of an unauthorized medicinal 
product in response to the spread of pathogens. The UK (but no EU countries) used this procedure with two COVID-19 
vaccines during December 2020. Notwithstanding the UK’s subsequent full departure from the EU, the EU provision is 
mirrored in UK medicines legislation. 

In the EU, for a period of eight years from the grant of a marketing authorization of an innovative product (the “reference 
medicinal product”), competent authorities may not accept marketing authorization applications from applicants seeking 
to market “generic medicinal products” where such applications rely on the data in the marketing authorization dossier of 
the reference product. Moreover, generic medicinal products that rely on the independently generated data of the reference 
product may not be placed on the market for 10 years from the granting of the initial marketing authorization for that 
reference medicinal product. This is extended to a maximum of 11 years if, during the first eight years of those 10 years, 
the marketing authorization holder obtains an authorization for one or more new therapeutic indications considered to offer 
a significant clinical benefit in comparison with existing therapies. These periods of data exclusivity do not prevent other 
companies from obtaining a marketing authorization based on their own independently generated data. The data exclusivity 
regime is currently under review. The EC intends to strike a balance between providing incentives for innovation and 
supporting timely patient access to medicinal products across the EU. To do so, the EC has published a proposal for a 
revised  Directive  on  the  Union  Code  Relating  to  Medicinal  Products  for  Human  Use,  which  proposes  replacing  the 
regulatory data protection system with a new regime that will offer innovators variable durations of data exclusivity.  Under 
the new rules, if implemented, new medicinal products will have a minimum period of regulatory protection of eight years, 
which includes six years of regulatory data protection and two years of market protection.  Such products may benefit 
from additional periods of regulatory data protection if they satisfy certain criteria, which may increase the total period of 
regulatory protection up to a maximum of 12 years (as compared to the current maximum of 11 years). 

If a marketing authorization is granted in the EEA for a medicinal product, such as the marketing authorization granted 
for Translarna for the treatment of nmDMD by the EC, the marketing authorization holder is required to comply with a 
range of requirements applicable to the manufacturing, marketing, promotion and sale of the medicinal products that are 
in addition to the other conditions of the marketing authorization described above. The marketing authorization holder 
must, for example, comply with the EU’s stringent pharmacovigilance or safety reporting rules, pursuant to which post- 
authorization studies and additional monitoring obligations can be imposed. Other requirements relate to, for example, the 
manufacturing  of  products  and  active  pharmaceutical  ingredients  in  accordance  with  good  manufacturing  practice 
standards.  Competent  authorities  of  EU  member  states  may  conduct  inspections  to  verify  compliance  with  applicable 
requirements, and the marketing authorization holder will have to continue to expend time, money and effort to remain 
compliant.  Non-compliance  with  EU  requirements  regarding  safety  monitoring  or  pharmacovigilance,  and  with 
requirements related to the development of products for the pediatric population, can also result in significant financial 

52 

penalties in the EU Similarly, failure to comply with the EU’s requirements regarding the protection of individual personal 
data can also lead to significant penalties and sanctions. Individual EU member states may also impose various sanctions 
and  penalties  in  case  we  do  not  comply  with  locally  applicable  requirements.  The  CAT  is  involved  in  any  procedure 
regarding the provision of advice on the conduct of efficacy follow-up, pharmacovigilance and risk management systems 
of ATMPs as provided for in ATMP legislation. 

Off-label promotion of medicinal products is prohibited in the EU. The applicable laws at EU level and in the individual 
EU member states also prohibit the direct-to-consumer advertising of prescription-only medicinal products. Violations of 
the rules governing the promotion of medicinal products in the EU could be penalized by administrative measures, fines 
and imprisonment. These laws may further limit or restrict our promotional activities with healthcare professionals. In 
addition, legislation adopted at the EU level and by individual EU member states require that promotional materials and 
advertising in relation to medicinal products comply with the product’s Summary of Product Characteristics, or SmPC, as 
approved by the competent authorities. The SmPC is the document that provides information to physicians concerning the 
safe  and  effective  use  of  the  medicinal  product.  Promotion  of  indications  not  covered  by  the  SmPC  is  specifically 
prohibited. ATMP legislation lays down certain minor extra labelling requirements for ATMPs. 

The EMA is responsible for coordinating inspections to verify compliance with the principles of GCP, good manufacturing 
practice, or GMP, GLP, and good pharmacovigilance practice. These inspections are also intended to verify compliance 
with  other  aspects  of  the  supervision  of  authorized  medicinal  products  in  use  in  the  EU.  The  EMA  coordinates  any 
inspection by the relevant member state regulatory authority as requested by the CHMP in connection with the assessment 
of marketing authorization applications or matters referred to these committees. Inspections may be routine or triggered 
by issues arising during the assessment of the dossier or by other information, such as previous inspection experience. 
Inspections usually are requested during the initial review of a marketing authorization application, but could arise post-
authorization. 

Inspectors are drawn from the regulatory authorities of member states of the EU and the EEA. Following an inspection, 
the inspectors provide a written inspection report to the inspected site or applicant and provide an opportunity for response. 
Some  inspection  reports  require  follow-up  and  may  result  in  additional  adverse  consequences  due  to  critical  or  major 
findings. The inspectors and the CHMP will comment on any response from an inspected site or applicant and may monitor 
future compliance with any proposed corrective action plan. 

In the GCP area, inspectors grade their findings according to the following scale: 

•  Critical: Conditions, practices or processes that adversely affect the rights, safety or well-being of the subjects or 
the quality and integrity of data. Observations classified as critical may include a pattern of deviations classified 
as major. 

•  Major:  Conditions,  practices  or  processes  that  might  adversely  affect  the  rights,  safety  or  well-being  of  the 
subjects  and/or  the  quality  and  integrity  of  data.  Observations  classified  as  major  may  include  a  pattern  of 
deviations or numerous minor observations. 

•  Minor:  Conditions,  practices or processes  that  would  not be  expected  to  adversely  affect  the  rights,  safety or 
wellbeing  of  the  subjects  or  the  quality  and  integrity  of  data.  Minor  observations  indicate  the  need  for 
improvement of conditions, practices and processes. 

•  Comments: Suggestions on how to improve quality or reduce the potential for a deviation to occur in the future. 

Possible consequences of critical and major findings include rejection of clinical trial data, causing significant delays in 
obtaining final marketing authorization, or other direct action by national regulatory authorities. 

Falsified Medicines Directive – As of February 2019, new legislation required manufacturers of marketed prescription 
medicines to place safety features on all medicines and contribute financially to the establishment of a verification system 
allowing the authenticity of a medicine to be assessed at the time of supply to the patient. Under the legislation, all packages 
of prescription medicines placed on the market in Europe have to bear two safety features: a unique identifier in the form 
of a two-dimensional data matrix (barcode) and an anti-tamper device. In addition, ATMP legislation requires a procedure 
for tracing the product and its starting and raw materials from its source to the site where the product is used. 

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Early access programs 

Many jurisdictions allow the supply of unauthorized medicinal products in the context of strictly regulated and exceptional 
EAP programs, and some countries may provide reimbursement for drugs provided in the context of such programs. In 
the EU, the legal basis for EAP programs, also referred to as named-patient and compassionate use programs, is set out in 
the EU legislation regulating the authorization, manufacture, distribution and marketing of medicinal products. Detailed 
regulatory requirements applicable to EAP programs have been adopted and implemented by EU member states in their 
national laws. The promotion, advertising and marketing of unauthorized medicinal products is generally prohibited, and 
authorization for EAP programs must generally be obtained from national competent authorities, which might not grant 
such authorization. Obtaining authorization for an EAP program in one country does not ensure that authorization will be 
obtained in another country. 

U.S. law permits “expanded access” (also known as compassionate use and treatment use) for certain patients with serious 
diseases who have no comparable alternative treatment options. The potential patient benefit must justify the potential 
risks of the treatment use and those potential risks must not be unreasonable in the context of the disease or condition to 
be  treated.  Moreover,  providing  the  investigational  drug  or  biologic  for  the  requested  use  must  not  interfere  with  the 
initiation, conduct, or completion of clinical investigations that could support marketing approval of the expanded access 
use  or  otherwise  compromise  the  potential  development  of  the  expanded  access  use.  Additional  requirements  apply 
depending  on the  size of  the  expanded  access population.  To provide  expanded  access,  sponsors,  including  individual 
physicians,  must  submit  detailed  regulatory  information  to  the  FDA  and  receive  the  agency’s  approval  for  the  use. 
However, if there is an emergency that requires that a patient be treated before a written submission can be made, the FDA 
may  authorize  the  expanded  access  use  by  telephone.  In  such  a  case,  a  written  expanded  access  submission  must  be 
submitted to the FDA within fifteen working days of the FDA’s authorization. Following approval for expanded access 
use, both the sponsor of the use and the investigator (i.e., physician) must comply with certain FDA requirements. Sponsors 
may not promote products as safe or effective for expanded-access uses. 

Pharmaceutical Pricing and Reimbursement 

The containment of healthcare costs has become a priority of federal, state and ex-U.S. governments, and the prices of 
pharmaceuticals have been a focus of this effort. Ex-U.S. governments, the U.S. government, and state legislatures have 
shown significant interest in implementing cost-containment programs to limit the growth of government-paid healthcare 
costs, including price controls, increases in rebates paid, restrictions on reimbursement and requirements for substitution 
of generic products for branded prescription drugs. 

In  some  countries,  particularly  the  countries  of  the  EU,  the  pricing  of  prescription  pharmaceuticals  is  subject  to 
governmental control. In these countries, pricing and reimbursement negotiations with governmental authorities can take 
considerable time after the receipt of marketing approval for a product and there is only limited EU-level control over the 
decision-making autonomy of the government authorities including in relation to timing, justification and the ability to 
challenge such decisions. In addition, there can be considerable pressure by governments and other stakeholders on prices 
and  reimbursement  levels,  including  as  part  of  cost  containment  measures.  In  some  countries,  governments  can  set 
conditions that must be satisfied for prices to be set at a certain value. Political, economic and regulatory developments 
may  further  complicate  pricing  and  reimbursement  negotiations,  and  pricing  negotiations  may  continue  after 
reimbursement has been obtained. Reference pricing used by various EU member states, and parallel distribution (arbitrage 
between low-priced and high- priced member states), can further reduce prices. In some countries we may be required to 
conduct a clinical trial or other studies that compare the cost-effectiveness of our product or product candidate to other 
available therapies in order to obtain reimbursement or pricing approval. 

In the United States, federal price reporting laws require manufacturers to calculate and report complex pricing metrics 
used to determine prescription rebates paid under the Medicaid Drug Rebate Program and amounts reimbursed pharmacies 
and other providers by the Medicaid and Medicare programs. Various state healthcare programs similarly obligate us to 
report  drug  pricing  information  that  is  used  as  the  basis  for  their  reimbursement  of  pharmacies  and  other  healthcare 
providers  and  the  negotiation  of  supplemental  rebates.  Payment  for  a  manufacturer’s  drugs  by  these  programs  is 
conditioned on submission of this pricing information. Some government healthcare programs impose penalties if drug 
price increases exceed specified percentages or inflation rates, and these penalties can result in mandatory penny prices 

54 

for  certain  federal  and  340B  program  customers.  States,  such  as  California,  have  also  enacted  transparency  laws  that 
require manufacturers to report price increases and related information, and may cap price increases, or require negotiation 
of  supplemental  rebates for new drugs  entering  the market  at price  points determined  to  be high.  Refusal  to negotiate 
supplemental rebates can negatively affect market access and provider reimbursement. Failure to comply with the rules for 
calculating and submitting pricing information or otherwise overcharging the government or its beneficiaries may result 
in criminal, civil, or administrative sanctions or enforcement actions, and expose us to federal civil False Claims Act, or 
the False Claims Act, liability. 

The Veterans Health Care Act of 1992 requires, as a condition of payment by certain federal agencies and the Medicaid 
program,  that  manufacturers  of  “covered  drugs”  (including  all  drugs  approved  under  an  NDA)  enter  into  a  Master 
Agreement  and  Federal  Supply  Schedule (FSS)  contract with  the Department of Veterans  Affairs  through  which  their 
covered drugs must be offered for sale at a mandatory calculated ceiling price to certain federal agencies, including the 
VA  and  Department  of  Defense.  FSS  contracts  require  compliance  with  applicable  federal  procurement  laws  and 
regulations, including disclosure of commercial prices during contract negotiations and maintenance of price relationships 
during the term of the contract, and subject manufacturers to contractual remedies as well as administrative, civil, and 
criminal sanctions. The Veterans Health Care Act also requires manufacturers to enter into pricing agreements with the 
Department of Health and Human Services to charge no more than a different ceiling price (derived from the Medicaid 
rebate percentage) to covered entities participating in the 340B drug discount program. Failure to accurately report drug 
pricing  or  to  provide  the  mandatory  discount  may  subject  the  manufacturer  to  specific  civil  monetary  penalties. 
Termination of either of these agreements also jeopardizes payment by Medicaid and Medicare for the manufacturer’s 
drugs in an outpatient setting. Certain states have also enacted drug price transparency laws that require reporting of pricing 
information, including certain increases in a drug’s wholesale acquisition cost and the reasons causing the price increase. 

Coverage policies, third-party reimbursement rates and drug pricing regulation may change at any time. For example, in 
the  United  States,  healthcare  reform  measures  under  the  Affordable  Care  Act,  contain  provisions  that  may  affect  the 
profitability of drug products. However, since its passage, Congress has repealed and amended certain provisions of the 
Affordable Care Act, repeal efforts may occur again, and legal challenges to the Affordable Care Act may contribute to 
the uncertainty of the ongoing implementation and impact of the Affordable Care Act and underscore the potential for 
additional reform going forward. Certain provisions of enacted or proposed legislative changes may negatively impact 
coverage and reimbursement of, or rebates paid by manufacturers for, healthcare items and services. We cannot assure 
that the Affordable Care Act, as currently enacted or as amended in the future, will not adversely affect our business and 
financial  results  and  we  cannot  predict  how  future  federal  or  state  legislative  or  administrative  changes  relating  to 
healthcare reform will affect our business. 

Legislators and regulators at both the federal and state level are increasingly focused on containing the cost of drugs, and 
there has been increasing legislative and enforcement interest in the United States with respect to specialty drug pricing 
practices. Specifically, there have been recent U.S. Congressional inquiries and proposed bills designed to, among other 
things, bring more transparency to drug pricing, penalize companies that do not agree to cap prices paid for certain drugs, 
review  the  relationship  between  pricing  and  manufacturer  patient  programs,  and  reform  government  program 
reimbursement methodologies for drugs. For example, in 2016, the Centers for Medicare and Medicaid Services, or CMS, 
issued a final rule regarding the Medicaid drug rebate program, which among other things, revises the manner in which 
the “average manufacturer price” or AMP is to be calculated by manufacturers participating in the program and implements 
certain  amendments  to  the  Medicaid  rebate  statute  created  under  the  Affordable  Care  Act,  or  ACA.  More  recently, 
Congress amended the Medicaid statute, effective October 1, 2019, to exclude prices paid by secondary manufacturers for 
an authorized generic drug (but not a product approved under the BLA process) from the NDA holder’s AMP for the 
brand, thereby increasing the rebate amount and the 340B price for the brand. This was implemented by CMS in a final 
rule issued December 31, 2020.  The rule also expanded the definition of products identified as “line extensions” and, in 
certain circumstances, required inclusion of patient copay assistance in Medicaid best price (effective January 1, 2023), 
thereby potentially increasing Medicaid rebates paid by manufacturers for such drugs. 340B program guidance regulations 
on civil monetary penalties for statutory violations, which had been finalized in early 2017 but deferred, also recently went 
into effect.  

On November 27, 2020, CMS issued an interim final rule implementing a Most Favored Nation payment model under 
which reimbursement for certain Medicare Part B drugs and biologicals will be based on a price that reflects the lowest 

55 

per capita Gross Domestic Product-adjusted (GDP-adjusted) price of any non-U.S. member country of the Organisation 
for Economic Co-operation and Development (OECD) with a GDP per capita that is at least sixty percent of the U.S. GDP 
per capita.  This rule now has been rescinded, but other efforts to address the costs of pharmaceuticals have been adopted, 
including the Inflation Reduction Act of 2022, or the IRA.  These and any additional healthcare reform measures could 
further constrain our business or limit the amounts that federal and state governments will pay for healthcare products and 
services, which could result in additional pricing pressures. 

Any  regulatory  approval  of  a  product  is  limited  to  specific  diseases  and  indications  for  which  such  product  has  been 
deemed safe and effective by the FDA. Coverage by federal healthcare programs, however, may be more limited than the 
indications for which a drug is approved by the FDA or comparable ex-U.S. regulatory authorities’ coverage of the same 
products. Sales of any products for which we may receive regulatory approval for commercial sale will depend in part on 
the extent to which the costs of the products will be covered and reimbursed by third-party payors, including government 
healthcare  programs  (such  as,  in  the  United  States,  Medicare  and  Medicaid),  private  health  insurers  and  other 
organizations. Obtaining reimbursement for orphan drugs may be particularly difficult because of the significant research 
and development challenges and costs and resulting pricing considerations typically associated with drugs developed to 
treat  conditions  that  affect  a  small  population  of  patients.  In  addition,  third-party  payors  are  likely  to  impose  strict 
requirements for reimbursement in connection with drugs that are perceived as having high costs. Net prices for products 
may be reduced by mandatory discounts or rebates required by government healthcare programs or private payors. 

The process for determining whether a payor will provide coverage for a product may be separate from the process for 
setting the price or reimbursement rate that the payor will pay for the product once coverage is approved. Third- party 
payors  may  limit  coverage  to  specific  products  on  an  approved  list,  or  formulary,  which  might  not  include  all  of  the 
approved products for a particular indication. Third-party payors are increasingly challenging the price and examining the 
cost-effectiveness of medical products and services. We may need to conduct expensive pharmacoeconomic studies in 
order to demonstrate the cost-effectiveness of our product or product candidates or conduct direct head-to-head studies to 
demonstrate  clinical  superiority  and  cost-effectiveness.  Our  products  and  product  candidates  may  not  be  considered 
clinically superior and cost-effective to competitor products. 

The  marketability  of  any  products  for  which  we  receive  regulatory  approval  for  commercial  sale  may  suffer  if  the 
government and other third-party payors fail to provide adequate coverage and reimbursement. 

Freedom of Information Requests and Affirmative Disclosures 

We are also subject, in the U.S. and many other countries, to various regulatory schemes that require disclosure of clinical 
trial data or allow access to our data via freedom of information requests. We have been and may, from time to time, be 
notified  by  regulators,  such  as  the  EMA  or  the  competent  authorities  of  EU  member  states  that  they  have  received  a 
freedom of information request for documents that they hold relating to our company, including information related to our 
product or our product candidates. For example, in 2015, we were notified by the EMA that it had received from another 
pharmaceutical  company  a  request  under  Regulation  (EC)  No  1049/2001  seeking  access  to  aspects  of  our  marketing 
authorization application for Translarna for the treatment of nmDMD. Following the decision of the EMA to release such 
documentation  with  only  minimal  redactions  we  initiated  litigation  before  the  General  Court  of  the  EU  to  prevent 
disclosure of this information. In the first quarter of 2018, the Court ruled in favor of the EMA, allowing the EMA to 
release the documentation. We appealed the General Court’s decision to the Court of Justice of the EU, or CJEU, but the 
CJEU  dismissed  our  appeal  in  January 2020  and  released  the  information  to  the  requester.  In  addition,  under  policies 
recently  adopted  in  the  EU,  clinical  trial  data  submitted  to  the  EMA  in  MAAs  that  were  traditionally  regarded  as 
confidential  commercial  information  is  now  subject  to  automatic  public  disclosure.  Further,  under  the  Clinical  Trials 
Regulation 536/2014, the sponsor of an EU trial must submit a summary of the results to an EU database within a year of 
the end of the trial. In addition, where the trial was intended to be used for obtaining a marketing authorization the applicant 
must submit the clinical study report 30 days after MA has been granted, refused or withdrawn. Subject to our limited 
ability to review and redact a narrow sub-set of confidential commercial information, these new EU policies will result in 
the EMA’s public disclosure of certain of our clinical study reports, clinical trial data summaries and clinical overviews 
for  recently  completed  and  future  MAA  submissions.  The  move  toward  public  disclosure  of  development  data  could 
adversely  affect  our  business  in  many  ways,  including,  for  example,  resulting  in  the  disclosure  of  our  confidential 
methodologies for development of our products, preventing us from obtaining intellectual property right protection for 

56 

innovations,  requiring  us  to  allocate  significant  resources  to  prevent  other  companies  from  violating  our  intellectual 
property rights, adding even more complexity to processing health data from clinical trials consistent with applicable data 
privacy regulations, and enabling competitors to use our data to gain approvals for their own products. 

Fraud and Abuse Laws 

Any  present  or  future  arrangements  or  interactions  with  third-party  payors,  healthcare  professionals,  healthcare 
organizations, patients and other customers may expose us to broadly applicable fraud and abuse and other healthcare laws 
and regulations that may restrict certain marketing and contracting practices. These laws include, and are not limited to, 
anti-kickback and false claims statutes. 

Both the federal Foreign Corrupt Practices Act, or FCPA, and the UK Bribery Act of 2010, or Bribery Act are broad in 
scope and will require companies to make and keep books and records that accurately and fairly reflect the transactions of 
the  company  and  to  devise  and  maintain  an  adequate  system  of  internal  accounting  controls.  The  FCPA  prohibits  the 
offering, promising, giving, or authorizing others to give anything of value, either directly or indirectly, to a non-U.S. 
government official, political party or candidate for public office in order to improperly influence any act or decision, 
secure any other improper advantage, or obtain or retain business. The FCPA also prohibits any U.S. person from corruptly 
acting outside the U.S. in furtherance of such offer, promise or payment. Under the UK Bribery Act, companies which 
carry on a business or part of a business in the United Kingdom may be held liable for bribes given, offered or promised 
to any person, including non-UK government officials and private persons, by employees and persons associated with the 
company in order to obtain or retain business or a business advantage for the company. Similar statutes have been adopted, 
or may be adopted in the future, by other countries in which we operate and with which we are or may be required to 
comply. 

The federal Anti-Kickback Statute prohibits, among other things, knowingly and willfully offering, paying, soliciting or 
receiving remuneration, directly or indirectly, in cash or kind, to induce or reward either the referral of an individual for, 
or the purchase, or order or recommendation of, any good or service, for which payment may be made in whole or in part 
under federal and state healthcare programs such as Medicare and Medicaid. This statute imposes criminal penalties and 
has been broadly interpreted to apply to manufacturer arrangements with prescribers, purchasers and formulary managers, 
among others. Although a number of statutory exemptions and regulatory safe harbors exist to protect certain common 
activities  from  prosecution,  the  exemptions  and  safe  harbors  for  this  statute  are  narrow,  and  practices  that  involve 
compensation intended to induce prescriptions, purchases, or recommendations may be subject to scrutiny if they do not 
qualify for an exemption or safe harbor. HHS recently promulgated a regulation that is effective in two phases.  First, the 
regulation excludes from the definition of “remuneration” limited categories of (a) PBM rebates or other reductions in 
price to a plan sponsor under Medicare Part D or a Medicaid Managed Care Organization plan reflected in point-of sale 
reductions in price and (b) PBM service fees.  Second, the regulation expressly provides that rebates to plan sponsors 
under Medicare Part D either directly to the plan sponsor under Medicare Part D, or indirectly through a pharmacy benefit 
manager will not be protected under the anti-kickback statute discount safe harbor. The effective date of the two new safe 
harbors and the revision to the discount safe harbor was delayed by court order until January 1, 2023.  Recent legislation 
further delayed implementation of the new safe harbors and the revision to the discount safe harbor until January 1, 2032.  
Our practices may not always meet all of the criteria for safe harbor protection. A person or entity need not have knowledge 
of the statutes or the specific intent to violate it in order to have committed a violation. In addition, the government may 
assert as a matter of law that a claim including items or services resulting from a violation of the federal Anti-Kickback 
Statute  constitutes  a  false or  fraudulent  claim  for  purposes  of  the  federal  civil False  Claims  Act.  Federal  enforcement 
agencies have shown increased interest under the federal Anti-Kickback Stature and the federal civil False Claims Act in 
pharmaceutical companies’ product and patient assistance programs, including reimbursement and co-pay support services 
and donations to independent charitable patient assistance programs. A number of investigations into these programs have 
resulted in significant civil and criminal settlements. Most states have adopted laws similar to the federal Anti-Kickback 
Statute, which apply to items and services reimbursed under Medicaid and other state programs; furthermore, in several 
states, these statutes and regulations apply regardless of the payor, including to commercial plans. Sanctions under these 
federal and state laws may include civil monetary penalties, exclusion of a manufacturer and its products from participation 
in federal healthcare programs, debarment from federal government procurement and non-procurement programs, criminal 
fines, and imprisonment. Several other countries, including the United Kingdom, have enacted similar anti-kickback, fraud 
and abuse laws and regulations. 

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The federal civil False Claims Act imposes civil liability and penalties on individuals or entities for knowingly presenting, 
or causing to be presented, to the federal government, claims for payment that are false or fraudulent, knowingly making, 
using, or causing to be made or used a false record or statement material to a false or fraudulent claim, or making a false 
statement to avoid, decrease or conceal an obligation to pay money to the federal government. Claims under the federal 
civil False Claims Act may be initiated by whistleblowers, who receive substantial financial incentives to come forward, 
through “qui tam” actions that can be pursued by the whistleblower even if the government declines to prosecute the case. 
Intent to deceive or actual knowledge of falsity is not necessary to establish civil liability, which may be predicated on 
deliberate indifference or reckless disregard for the truth. The federal government continues to use the False Claims Act, 
and the accompanying threat of significant liability, in investigations against pharmaceutical and healthcare companies. 
These  investigations  have  involved,  for  example,  allegations  of  improper  financial  relationships  with  referral  sources, 
providing  free  product  to  customers  with  the  expectation  that  the  customers  would  bill  federal  programs  for  the  free 
product, as well as the promotion of products for unapproved uses and reporting false pricing information. A violation of 
the federal Anti-Kickback Statute is a per se violation of civil False Claims Act. Potential liability under the federal civil 
False  Claims  Act  includes  treble  damages  and  significant  per  claim  penalties.  The  criminal  federal  False  Claims  Act 
imposes criminal fines or imprisonment against individuals or entities who make or present a claim to the government 
knowing such claim to be false, fictitious or fraudulent. Conviction or civil judgment for violation of the False Claims Act 
can also result in debarment from federal government procurement and non-procurement programs and exclusion from 
participation in federal healthcare programs. The majority of states also have statutes or regulations similar to the federal 
False Claims Act, which apply to items and services reimbursed under Medicaid and other state programs. 

The Affordable Care Act included a provision requiring certain providers and suppliers of items and services to federal 
healthcare programs to report and return overpayments within sixty days after they are “identified” (the “Overpayment 
Statute”), after which the recipient of the overpayment incurs federal civil False Claims Act liability. The law prohibits a 
recipient of a payment from the government from keeping an overpayment when the government mistakenly pays more 
than the amount to which the recipient is entitled even if the overpayment is not caused by any conduct of the recipient. In 
2014 and 2016, the CMS released regulatory guidance (in the form of final rules) to Medicare providers, suppliers and 
managed  care  and  prescription  drug  plans  regarding  how  to  comply  with  the  Overpayment  Statute.  Although  these 
Medicare providers, suppliers and plans have faced federal False Claims Act liability since 2010 for failures to comply 
with the Overpayment Statute, these final rules interpreting the Overpayment Statute provide guidance regarding how to 
comply  with  applicable  obligations,  and  guidance  to  government  regulators  and  enforcement  authorities  regarding 
monitoring and prosecuting suspected violations. These final rules are not directly applicable to manufacturers, unless a 
manufacturer is a direct recipient of payment by an agency such as a research grant, but may impact a manufacturer’s 
customers  and  potential  customers  who  are  Medicare  providers,  suppliers,  and  plans.    In  a  proposed  rule  issued  on 
December 27, 2022, CMS is proposing to revise the standard for “identification” which could significantly reduce the time 
to investigate and report any possible overpayment, thereby increasing the risk of incurring federal civil False Claims Act 
liability for healthcare providers and suppliers. 

The  federal  Physician  Payments  Sunshine  Act,  enacted  as  part  of  the  Affordable  Care  Act,  and  its  implementing 
regulations, require manufacturers of drugs, devices, biologics and medical supplies for which payment is available under 
Medicare,  Medicaid,  or  the Children’s Health  Insurance Program  (with  certain  exceptions)  to report  annually  to  CMS 
information related to certain payments and other transfers of value made to or at the request of covered recipients, such 
as, but not limited to, physicians, physician assistants, nurse practitioners, clinical nurse specialists, certified registered 
nurse  anesthetists  and  certified  nurse  midwives  licensed  in  the  United  States  and  to  US  teaching  hospitals,  as  well  as 
ownership  and  investment  interests  held  by  physicians  and  members  of  their  immediate  family.  Payments  made  to 
physicians, other principal investigators and certain research institutions for research, including clinical trials, are included 
within  the  ambit  of  this  law.  Such  information  is  made  publicly  available  by  CMS  in  a  searchable  format,  with  data 
collected in each calendar year published the following June. Failure to submit required information may result in civil 
monetary penalties, with increased penalties for “knowing failures,” for each payment, transfer of value or ownership or 
investment interest not timely and accurately reported in an annual submission. If not preempted by this federal law, several 
states  currently  require  pharmaceutical  companies  to  report  expenses  relating  to  the  marketing  and  promotion  of 
pharmaceutical products and to report gifts and payments to healthcare professionals in those states. Depending on the 
state, legislation may prohibit various marketing-related activities, such as gift bans, or require the posting of information 
relating to clinical studies and their outcomes. In addition, certain states, such as California, Nevada, Connecticut and 
Massachusetts, require pharmaceutical companies to implement compliance programs or marketing codes of conduct and 

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several other states are considering similar proposals. Manufacturers that fail to comply with these state laws can face civil 
penalties. 

Statutory requirements to disclose publicly payments made to healthcare professionals and healthcare organizations have 
also been enacted in certain European Union member states. In addition, self-regulatory bodies of the pharmaceuticals 
industry, such as the European Federation of Pharmaceutical Industries and Associations, or EFPIA, have published codes 
of conduct to which its members have agreed to abide, that require the public disclosure of payments made to healthcare 
professionals  and  healthcare  organizations.  In  some  countries  (including  France,  Denmark  and  Portugal)  such 
requirements are enforceable by law. 

The federal Health Insurance Portability and Accountability Act of 1996, or HIPAA, created federal criminal statutes that 
prohibit, among other actions, knowingly and willfully executing, or attempting to execute, a scheme to defraud or to 
obtain, by means of false or fraudulent pretenses, representations or promises, any of the money or property owned by, or 
under  the  custody  or  control  of,  a  healthcare  benefit  program,  regardless  of  whether  the  payor  is  public  or  private,  in 
connection with the delivery of, or payment for, healthcare benefits, knowingly and willfully embezzling or stealing from 
a healthcare benefit program, willfully obstructing a criminal investigation of a healthcare offense and knowingly and 
willfully  falsifying,  concealing,  or  covering  up  by  any  trick  or  device  a  material  fact  or  making  any  materially  false 
statements in connection with the delivery of, or payment for, healthcare benefits, items, or services relating to healthcare 
matters. Additionally, the Affordable Care Act amended the intent requirement of certain of these criminal statutes under 
HIPAA so that a person or entity no longer needs to have actual knowledge of the statute, or the specific intent to violate 
it, to have committed a violation.  

HIPAA, as amended by the Health Information Technology for Economic and Clinical Health Act of 2009, or HITECH 
Act, also imposes obligations on certain entities with respect to safeguarding the privacy, security and transmission of 
certain  individually  identifiable  health  information,  known  as  protected  health  information.  Among  other  things,  the 
HITECH Act and its implementing regulations make HIPAA’s security and certain privacy standards directly applicable 
to “business associates,” defined as persons or organizations of covered entities, other than members of the covered entity’s 
workforce,  that  create,  receive,  maintain  or  transmit  protected  health  information  on  behalf  of  a  covered  entity  for  a 
function or activity regulated by HIPAA. The HITECH Act also strengthened the civil and criminal penalties that may be 
imposed against covered entities, business associates and individuals, and gave state attorneys general new authority to 
file civil actions for damages or injunctions in federal courts to enforce the federal HIPAA laws and seek attorneys’ fees 
and costs associated with pursuing federal civil actions. In addition, other federal and state laws, such as the California 
Consumer Privacy Act, or CCPA, may regulate the privacy and security of personal information that we maintain, many 
of which may differ from each other in significant ways. Since the CCPA was signed into law in 2018, several other states, 
including  Virginia,  Colorado,  Utah  and  Connecticut,  have  enacted  similar  privacy  laws  that  may  apply  to  personal 
information that we collect or maintain. 

Outside of the U.S., additional privacy and data protection laws may apply to our operations. For example, the European 
General Data Protection Regulation, or GDPR, United Kingdom’s implementation of the GDPR and equivalent Swiss 
legislation may  apply  to  some or  all of  the  clinical  or  other protected data obtained, transmitted, or  stored  from  those 
territories. These laws require specific, freely given and fully informed consent to be obtained from patients or clinical 
study participants or other lawful bases for processing. There are also other requirements for lawful processing, including 
transparency  obligations,  data  minimization  requirements,  data  transfer  restrictions  and  compliance  obligations  with 
individuals’ stringent rights to access their personal data and to otherwise control the processing of their personal data. 
There are data breach notification obligations, to supervisory authorities and to individuals, where there are potential risks 
to  them  arising  from  the  data  breach.  These  laws  impose  high  regulatory  fines  in  the  event  of  breach  of  processing 
requirements of up to 4% of global annual turnover or EUR 20 million (whichever is the higher amount). The European, 
UK  and  Swiss  legislation  only  permits  transfer  of  personal  data  to  countries  where  there  is  adequate  protection  as 
determined the EC or where other mechanisms are in place such as Standard Contractual Clauses or the EU-US Data 
Privacy Framework. 

In addition, interactions between pharmaceutical companies and physicians are also governed by industry self-regulation 
codes  of  conduct  and  physicians’  codes  of  professional  conduct.  In  the  United  States,  some  state  laws  require 
pharmaceutical companies to comply with these industry and physician codes and the relevant compliance guidance for 

59 

pharmaceutical  manufacturers  promulgated  by  the  federal  government.  The  provision  of  benefits  or  advantages  to 
physicians  to  induce  or  encourage  the  prescription,  recommendation,  endorsement,  purchase,  supply,  order  or  use  of 
medicinal products is prohibited in the EU. The provision of benefits or advantages to physicians is also governed by the 
national laws of the EU member states, as well as codes of conduct issued by self-regulatory industry bodies. Moreover, 
agreements with physicians must often be the subject of prior notification and approval by the physician’s employer, their 
competent  professional  organization,  and  the  competent  authorities  of  the  individual  EU  member  states.  These 
requirements are provided in the national laws, industry codes, or professional codes of conduct, applicable in the EU 
member states. 

Any continuing efforts to modify, repeal, or otherwise invalidate all, or certain provisions of, the Affordable Care Act, 
could have an impact on fraud and abuse provisions and other requirements, including the Physician Payments Sunshine 
Act, that were authorized and enacted under the Affordable Care Act. 

Human Capital Resources 

As  of  December  31,  2023,  we  had  995  employees,  of  whom  988  were  employed  full-time,  and  70  consultants  and 
contractors, of whom 67 were full-time. None of our U.S. based employees are represented by labor unions or covered by 
collective bargaining agreements, although certain international employees are  covered by collective labor agreements 
established under local law. We consider our relationship with our employees to be good.  

We  believe  that  our  growth  and  success  is  dependent  on  the  contributions  of  our  employees,  as  led  by  our  executive 
officers. We focus significant attention on attracting, retaining, engaging, and further developing talented and experienced 
individuals  to  manage  and  support  our  operations.  In  particular,  recruiting  and  retaining  qualified  scientific,  clinical, 
manufacturing,  commercial,  marketing  and  support  personnel  is  critical  to  our  success.  Competition  for  these  skilled 
personnel is high. We believe that our strong culture of teamwork and desire to be ever better help us attract and retain 
employees. Our employees complete Gallup, Inc.’s Clifton Strengths talent assessment and attend related training sessions. 
These tools have been implemented to help our employees identify their core strengths and learn how to use these strengths 
to become more engaged and productive at work as well as to lead an overall more satisfying and healthier lifestyle. Our 
Brazilian office was recognized as a “great place to work” by the Great Place to Work Institute in 2021, 2022 and 2023. 

Based on external benchmarks, we offer employees a number of additional resources and tools to help in their personal 
and  professional  development,  including  career  coaching,  targeted  leadership  development  for  identified  current  and 
emerging  leaders,  internal  and  external development  programs, professional  assessment  tools,  a  paid  subscription to  a 
digital on-demand career and management learning solutions platform and a wellness website through which employees 
may access information regarding scheduled healthy lifestyle activities, articles and other beneficial resources. To help 
newly hired employees, our global onboarding team conducts monthly surveys and focus groups and each newly hired 
employee  is paired with  a  “buddy”  to  assist  in  their  transition. Also, we  require  specialized  leadership  training  for all 
employees responsible for managing others within our organization.  In 2023, we established a center of excellence for 
coaching and mentoring, with 65 mentorships in place as of December 31, 2023. We have delivered more than 8,800 
training hours, offered 140 learning sessions to all employees, and 95 customized training sessions to teams. We have also 
delivered more than 150 coaching hours with internal coaches. Our executive team routinely reviews employee turnover 
throughout the organization to monitor employee satisfaction.  

We  believe  that  we  provide  a  competitive  total  reward  offering  to  our  employees,  with  market  competitive  cash 
compensation, equity, and industry competitive company-paid benefits, including subsidized medical, and dental insurance 
and retirement plans, as well as group vision insurance, tuition reimbursement, and benefits and policies to support parental 
leave, mental health and wellness, family planning and child bonding. In 2023, we implemented a program that offers 
financial support and access to high quality fertility care and family forming benefits to our employees. Total rewards 
offerings are established by employee positions, skill levels, experience, knowledge, and geographic location. We also 
provide flexible work arrangements for our employees, including remote work options when practicable. In addition, to 
assist  our  employees  during  times  of  personal  disasters  that  impact  them  and  their  families,  we  have  established  an 
employee relief program that is funded by our employees with corporate matches. 

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We  are  committed  to  hiring,  developing,  and  supporting  a  diverse  and  inclusive  workplace,  and  continue  to  focus  on 
extending  our  equality,  diversity,  and  inclusion  initiatives  across  our  workforce.  All  of  our  employees  are  required  to 
adhere to our Code of Business Conduct and Ethics, and all relevant country regulations which sets forth the high level of 
integrity, legal compliance and patient-centric focus expected of all our employees. We have a team of professionals that 
oversees our culture and community program. The mission of our culture and community team is to collaborate with cross 
functional partners and create intentional efforts to connect and engage with employees who want to find community and 
apply their passion to make a difference. A core element of this mission is our equality, diversity and inclusion, or ED&I, 
program  which  is  managed  by  an  ED&I  professional,  who  routinely  meets  with  our  executive  committee.  Our  ED&I 
program seeks to enable all employees to feel a sense of purpose and belonging through their connections with our internal 
communities. This program is guided by a steering committee comprised of senior leaders, volunteer ED&I ambassadors 
and  representatives  from  our  seven  Employee  Resource  Groups,  or  ERGs,  each  of  which  associates  with  a  different 
underrepresented  community.  Our  ERGs  meet  monthly  and  serve  to  offer  a  safe  place  for  our  employees  to  have 
conversations about social issues, celebrate cultural observances and to grow as individuals. We believe that our ERGs 
and our ED&I program help our employees to better understand and celebrate each other, resulting in a more cohesive 
work environment. 

We continue to provide opportunities for talented individuals through our global Talent Pipeline Program, or the TPP. The 
TPP  is  a  global  fellowship  program  aimed  at  providing  recent  diverse  graduates  real-world  experience  in  the 
biopharmaceutical  industry  and  related  professions,  including  research,  clinical,  finance,  commercial,  marketing, 
compliance,  quality,  legal,  information  technology,  human  resources,  government  affairs,  and  communications. 
Participants  are  recruited  from  a  global  diverse  group  of  institutions  and  networks  and  are  provided  mentorship,  job 
coaching, career counseling, and leadership training for one year. Participants from the TPP are often offered full-time 
positions based upon our workforce needs. The TPP was originally established in 2020 to benefit students that graduated 
during the COVID-19 pandemic. 

Our Corporate Information 

Our principal executive offices are located at 100 Corporate Court, South Plainfield, New Jersey 07080. Our telephone 
number is (908) 222-7000. We maintain a website at www.ptcbio.com. 

Additional Information 

We make available, free of charge on our website, www.ptcbio.com, our annual reports on Form 10-K, quarterly reports 
on  Form 10-Q,  current  reports  on  Form 8-K,  and  all  amendments  to  those  reports  filed  or  furnished  pursuant  to 
Section 13(a) or 15(d) of the Securities Exchange Act of 1934, as amended, or the Exchange Act, as soon as reasonably 
practicable after we electronically file those reports with, or furnish them to, the Securities and Exchange Commission, or 
SEC. We also make available, free of charge on our website, the reports filed with the SEC by our executive officers, 
directors and 10% stockholders pursuant to Section 16 under the Exchange Act as soon as reasonably practicable after 
copies of those filings are provided to us by those persons. Such reports, proxy statements and other information may be 
obtained through the SEC’s website (www.sec.gov). The information contained on, or that can be accessed through, our 
website is not a part of or incorporated by reference in this Annual Report on Form 10-K. 

Item 1A.   Risk Factors 

The  following  risk  factors  and  other  information  included  in  this  Annual  Report  on  Form 10-K  should  be  carefully 
considered. The risks and uncertainties described below are not the only ones we face. Additional risks and uncertainties 
not presently known to us or that we presently deem less significant may also impair our business operations. Please see 
page 1 of this Annual Report on Form 10-K for a discussion of some of the forward-looking statements that are qualified 
by these risk factors. If any of the following risks occur, our business, financial condition, results of operations and future 
growth prospects could be materially and adversely affected. 

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Risks Related to the Development and Commercialization of our Products and our Product Candidates 

We may be unable to continue to commercialize Translarna for nmDMD in the EEA if the EC adopts the negative 
opinion issued by the CHMP for the renewal of the existing conditional authorization for Translarna. 

Our  marketing  authorization  for  Translarna  for  the  treatment  of  nonsense  mutation  Duchenne  muscular  dystrophy,  or 
nmDMD, in ambulatory patients aged two years and older in the EEA is subject to annual review and renewal by the EC 
following reassessment by the EMA of the benefit-risk balance of the authorization. In September 2022, we submitted a 
Type II variation to the EMA to support conversion of the conditional marketing authorization for Translarna to a standard 
marketing authorization, which included a report on the placebo-controlled trial of Study 041 and data from the open-label 
extension.  In  February  2023,  we  also  submitted  an  annual  marketing  authorization  renewal  request  to  the  EMA.  In 
September 2023, the CHMP gave a negative opinion on the conversion of the conditional marketing authorization to full 
marketing authorization of Translarna for the treatment of nmDMD and a negative opinion on the renewal of the existing 
conditional marketing authorization of Translarna for the treatment of nmDMD. On January 25, 2024, the CHMP issued 
a negative opinion for the renewal of the conditional marketing authorization following a re-examination procedure. In 
accordance  with  EMA  regulations,  the  EC  has  67  days  to  adopt  the  opinion.  If  the  EC  adopts  the  negative  opinion, 
Translarna would no longer have marketing authorization in the member states of the EEA.  

Given the negative opinion from the CHMP, we believe that it is likely that the EC will refuse to renew the marketing 
authorization for Translarna. While we are exploring other potential mechanisms in which we may provide Translarna to 
nmDMD  patients  in  the  EEA,  we  may  be  unable  to  identify  processes  that  are  both  possible  within  the  regulatory 
frameworks  of  individual  EEA  countries  and  commercially  viable.  As  such,  there  is  substantial  risk  to  our  ability  to 
maintain our conditional marketing authorization in the EEA and our ability to commercialize Translarna for the treatment 
of nmDMD in the EEA. If we are unable to renew our conditional marketing authorization in the EEA or we are unable to 
identify other potential mechanisms in which we may provide Translarna to nmDMD patients in the EEA, we would lose 
all, or a significant portion of, our ability to generate revenue from sales of Translarna in the EEA, which would have a 
material adverse effect on our business, results of operations and financial condition.  

Additionally, the CHMP’s negative opinion for Translarna and potential loss of the Translarna marketing authorization in 
the EEA may influence regulatory entities in other jurisdictions in which Translarna has been approved to reassess such 
approvals. For example, certain countries reference or depend on the determination by the EMA when considering the 
grant  of  a  marketing  authorization.  There  is  substantial  risk  that  we  would  be  unable  to  maintain  our  marketing 
authorizations in these countries in the event the EC decides not to renew or otherwise varies, suspends or withdraws our 
marketing authorization in the EEA. Even in countries where our marketing authorization is maintained, there may be an 
impact  on  pricing  and  reimbursement  of  Translarna  within  those  countries.  Any  potential  reassessments  or  scheduled 
renewals of our marketing authorizations or impacts to pricing and reimbursement may lead to additional regulatory costs, 
requirements to complete additional clinical trials, restrictions on or removal of our marketing authorizations or loss of a 
significant portion of our revenue for Translarna in other jurisdictions, which could have a material adverse effect on our 
business, results of operations and financial condition. 

If we are unable to continue to execute our commercial strategy for our products, fail to obtain renewal of, or satisfy 
the conditions of our marketing authorization for our products, or if we experience significant delays in accomplishing 
such goals, our business will be materially harmed. 

We  have  invested  a  significant  portion  of  our  efforts  and  financial  resources  to  bring  our  products  to  market  through 
research  and  development,  collaborations  and  acquisitions.  Our  ability  to  continue  to  generate  product  revenues  will 
depend heavily on the successful commercialization of our products. 

If we do not successfully maintain our marketing authorizations for our products and obtain new marketing authorizations 
for  our  product  candidates  and  new  uses  of  our  approved  products,  our  ability  to  generate  additional  revenue  will  be 
jeopardized  and,  consequently,  our  business  will  be  materially  harmed.  Additionally,  our  ability  to  make  our  licensed 

62 

 
products available within the relevant territories is largely dependent upon the maintenance of the marketing authorizations 
by the licensor. The success of our products will depend on a number of additional factors, including the following: 

• 

• 
• 

• 

• 
• 

• 
• 

• 
• 
• 
• 
• 

• 
• 

• 

our ability to negotiate, secure and maintain adequate pricing, coverage and reimbursement terms on a timely 
basis, or at all; 
the timing, scope  and outcome of commercial launches; 
the maintenance and expansion of a commercial infrastructure capable of supporting product sales, marketing 
and distribution; 
the implementation and maintenance of marketing and distribution relationships with third parties in territories 
where we do not pursue direct commercialization; 
our ability to establish and maintain commercial manufacturing arrangements with third-party manufacturers; 
our ability or the ability of our third-party manufacturers to successfully produce commercial and clinical supply 
of drug on a timely basis sufficient to meet the needs of our commercial and clinical activities; 
successful identification of eligible patients; 
acceptance of the drug as a treatment for the approved indication by patients, the medical community and third-
party payors; 
effectively competing with other therapies; 
global trade policies; 
a continued acceptable safety profile of the drug; 
the costs, timing and outcome of post-marketing studies and trials required for our products; 
protecting our rights in our intellectual property portfolio, obtaining and maintaining regulatory exclusivity and 
whether we are able to maintain market exclusivity periods under the Orphan Drug Act or equivalent protections 
in other jurisdictions; 

•  whether negative results from our clinical or pre-clinical trials of a product for one indication affect the perception 
of such product in another indication, including with respect to determinations by regulators, including the FDA 
and  EMA,  with  respect  to  our  ongoing  or  future  regulatory  submissions  for  marketing  authorization  of  our 
products for any indication; 

•  whether, with respect to Translarna, we are able to continue to satisfy our obligations under, and maintain, the 
marketing authorization in the EEA for Translarna for the treatment of nmDMD, including whether the EMA 
determines  on  an  annual  basis  that  the  benefit-risk  balance  of  Translarna  supports  renewal  of  our  marketing 
authorization in the EEA, on the current approved label; 

•  whether,  and  within  what  timeframe,  we  are  able  to  advance  Translarna  for  the  treatment  of  nmDMD  in  the 
United States, including, whether we will be required to perform additional clinical trials, non-clinical studies or 
CMC  assessments  or  analyses  at  significant  cost  which,  if  successful,  may  enable  FDA  review  of  an  NDA 
submission by us and, ultimately, may support approval of Translarna for nmDMD in the United States; 
our ability to obtain additional and maintain existing reimbursed named patient and cohort EAP programs for our 
products on adequate terms; 

• 

our  ability  to  successfully  prepare  and  advance  regulatory  submissions  for  marketing  authorizations  for  our 
products in additional territories and for additional or expanded indications and whether and in what timeframe 
we may obtain such authorizations; and 
the  ability  and  willingness of  patients  and healthcare professionals  to  access  our products  through  alternative 
means if pricing and reimbursement negotiations in the applicable territory do not have a positive outcome. 

If we do not achieve one or more of these factors in a timely manner or at all, we could experience significant delays or 
an  inability  to  continue  to  commercialize  our  products,  either  of  which  would  have  a  material  adverse  effect  on  our 
business, results of operations and financial condition. 

63 

 
 
Delays or failures in obtaining regulatory approval would prevent us from commercializing our product candidates in 
the applicable territory and our ability to generate revenue will be materially impaired. Moreover, should we need to 
conduct additional development work, other than those we have planned, we expect to incur significant costs, which 
may have a material adverse effect on our business and results of operations. 

There is significant risk that we will be unable to obtain approval for our product candidates on a timely basis or at all, and 
we may be required to perform additional clinical trials, non-clinical studies or CMC assessments or analyses at significant 
cost.  Product  development  is  expensive,  difficult  to  design  and  implement,  can  take  many  years  to  complete  and  is 
uncertain as to outcome. This is especially true for rare and/or complicated diseases. A failure of one or more clinical or 
preclinical trials, or manufacturing development can occur at any stage. Preclinical and clinical studies may also reveal 
unfavorable  product  candidate  characteristics,  including  safety  concerns,  or  may  not  demonstrate  product  candidate 
efficacy. There can be significant variability in results between different clinical trials of the same product candidate due 
to numerous factors. The outcome of preclinical testing and early clinical trials may not be predictive of the success of 
later clinical trials, and interim results of a clinical trial do not necessarily predict final results. Moreover, preclinical and 
clinical data are often susceptible to varying interpretations and analyses, and many companies that have believed their 
product  candidates  performed  satisfactorily  in  preclinical  studies  and  clinical  trials  have  nonetheless  failed  to  obtain 
marketing authorization of their products. 

The approval process is also subject to the substantial discretion of regulatory authorities and the approval procedures vary 
among  countries,  can  involve  additional  testing,  and  the  time  for  approval  may  materially  differ  and  be  subject  to 
administrative delays that we cannot control. Approval by the FDA does not ensure approval by regulatory authorities in 
other countries or jurisdictions, and approval by one regulatory authority outside the United States does not ensure approval 
by regulatory authorities in other countries or jurisdictions or by the FDA. However, the failure to obtain approval in one 
jurisdiction may compromise our ability to obtain approval elsewhere.  

In response to changes in the regulatory environment or requests from regulators, we may elect, or be obliged, to postpone 
a regulatory submission to include additional analyses, which could cause delays in getting our products to market and 
substantially increase our costs. Securing marketing authorization also requires the submission of information about the 
product manufacturing process to, and inspection or conduct of remote regulatory assessments of manufacturing facilities 
by,  the  regulatory  authorities.  Changes  to  manufacturers,  product  candidate  formulation,  manufacturing  processes  and 
other product candidate attributes, such as the method of delivery, during product candidate development may also require 
additional  studies  to  demonstrate  the  comparability  of  the  product  candidate  using  prior  processes,  formulation,  or 
manufacturers, or with the prior attributes, to the product candidate using new the processes, formulation, or manufacturers, 
or with the new attributes. 

For example, we have been seeking FDA approval for Translarna for nmDMD with the FDA since 2010 and the FDA has 
repeatedly disagreed with our interpretation of our results. In October 2017, the Office of Drug Evaluation I of the FDA 
issued a Complete Response Letter for the NDA, stating that it was unable to approve the application in its current form. 
In response, we filed a formal dispute resolution request with the Office of New Drugs of the FDA. In February 2018, the 
Office of New Drugs of the FDA denied our appeal of the Complete Response Letter. In its response, the Office of New 
Drugs recommended a possible path forward for the ataluren NDA submission based on the accelerated approval pathway. 
This would involve a re-submission of an NDA containing the current data on effectiveness of ataluren with new data to 
be  generated  on  dystrophin  production  in  nmDMD  patients’  muscles.  We  followed  the  FDA’s  recommendation  and 
collected, using newer technologies via procedures and methods that we designed, such dystrophin data in a new study, 
Study 045, and announced the results of Study 045 in February 2021. Study 045 did not meet its pre-specified primary 
endpoint.  In  June  2022,  we  announced  top-line  results  from  the  placebo-controlled  trial  of  Study  041.  Following  this 
announcement, we submitted a meeting request to the FDA to gain clarity on the regulatory pathway for a potential re-
submission  of  an  NDA  for  Translarna.  The  FDA  provided  initial  written  feedback  that  Study  041  does  not  provide 
substantial evidence of effectiveness to support NDA re-submission. We held a Type C meeting with the FDA in the fourth 
quarter of 2023 to discuss the totality of Translarna data. Based on this discussion, the FDA suggested we request a pre-
submission Type C meeting to discuss the specific contents of an NDA resubmission based on results from Study 041 and 
from our international drug registry study for nmDMD patients receiving Translarna. This meeting is scheduled for March 
2024. 

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With respect to Upstaza, in a late 2019 interaction with the FDA, the FDA requested additional information concerning 
the use of the commercial delivery system for Upstaza in young patients. In response to the FDA’s request, we provided 
additional information concerning the use of the commercial cannula for Upstaza in young patients. In October 2022, we 
held a Type C meeting with the FDA to discuss the details of a potential submission package for Upstaza. At that meeting, 
the FDA asked for additional bioanalytical data in support of comparability between the drug product used in the clinical 
studies and the commercial drug product. We completed these analyses and provided the results to the FDA for review. 
The FDA stated that the data that we provided were still not sufficient. However, the FDA also said that the available data 
from the ongoing clinical study in the United States assessing the safety of the drug delivery cannula for Upstaza could be 
used to support a BLA for accelerated approval based on biomarker data demonstrating a treatment-related increase in de 
novo dopamine production. At the FDA’s suggestion, we held a pre-BLA meeting in December 2023. We expect to submit 
a BLA to the FDA for Upstaza for the treatment of AADC deficiency in March 2024. 

There is no guarantee that we will be able to achieve our milestones at all or within our anticipated timeframes, or that 
regulators may have additional questions to which we will need to respond.  There is also substantial risk that the results 
of our future or current studies will not ultimately support the approval of a product candidate. Regulators may also request 
additional studies, data and information, that we may need to develop and which were not originally planned for. Any 
delays in obtaining regulatory approval, or if we never obtain regulatory approval, could have a material adverse effect on 
our business, financial condition and results of operations. 

We may use certain specialized pathways to develop our product candidates or to seek approval.  We may not qualify 
for  these  pathways  or  such  pathways  may  not  ultimately  speed  the  time  to  approval  or  result  in  product  candidate 
approval. 

In  the  United  States,  we  may  pursue  the  accelerated  approval  pathway  for  certain  of  our  product  candidates,  such  as 
Translarna. However, the FDA may find that our product candidates do not qualify for accelerated approval. Moreover, 
even if we do ultimately receive accelerated approval, we would need to meet certain post approval requirements, such as 
completing a post-approval study confirming our product candidates’ clinical benefit that may require substantial time, 
effort, and funds.  The FDA must specify the conditions for the required post approval studies, including enrollment targets, 
the study protocol, milestones, and target completion dates, by the time of approval and the FDA may require that the post-
approval studies be commenced before the date of approval.  If this study does not confirm the product’s clinical benefit 
or if the study is not conducted in accordance with the FDA’s requirements, it would be subject to the risk of expedited 
FDA withdrawal. Additional regulatory requirements also include the pre-submission of promotional materials to the FDA 
and potential restrictions, such as distribution restrictions, to assure the product’s safe use. In recent years, the accelerated 
approval pathway has come under significant FDA and public scrutiny.  Accordingly, depending on the results of our 
studies, the FDA may be more conservative in granting accelerated approval or, if granted, may be more apt to withdrawal 
approval if clinical benefit is not confirmed.  Due to these and other uncertainties, we are unable to estimate the timing or 
potential for product candidates for which we may use the accelerated approval pathway or the cost or effort required to 
receive FDA approval. Further, even if we receive accelerated approval, there is no guarantee that we would be able to 
maintain such approval. 

If we or our collaborators experience any of a number of possible unforeseen events in connection with clinical trials 
related  to  our  products  or  our  product  candidates,  maintenance  of  our  existing  marketing  authorization  for  our 
products and any additional potential marketing authorization or commercialization of our products or our product 
candidates could be delayed or prevented. 

We or our collaborators may experience numerous unforeseen events during, or as a result of, clinical trials that could 
delay or prevent our ability to receive marketing authorization or commercialize our products or our product candidates, 
including: 

• 

clinical trials may produce negative or inconclusive results, regulators may disagree with our interpretation of 
results,  our  studies  may  fail  to  reach  the  necessary  level  of  statistical  significance,  or  we  may  not  be  able  to 
demonstrate that our product candidates are safe, effective, or provide an advantage over current standard of care 
or other therapies; 

65 

• 

• 

• 

our  clinical  trials  may  not  meet  their  primary  endpoints.    For  example,  for  Translarna,  the  primary  efficacy 
endpoint in the intent to treat, or ITT, population did not achieve statistical significance in the Phase 2b trial 
(completed in 2009), Phase 3 trial in ACT DMD (completed in 2015), or Study 045 (completed in 2021); 
there may be flaws in our clinical trials’ design that may not become apparent until the clinical trials are well 
advanced or regulators may not agree with the design of our studies or our analysis of the resulting data; 
clinical trial sites or enrolled patients, as well as the resulting data, may be negatively affected by outbreaks of 
contagious disease, such as COVID-19, resulting in delays and disruptions in completing clinical trials, such as 
the delays we experienced in 2021 and 2022 in enrolling a Phase 2/3 placebo-controlled trial of vatiquinone in 
children with mitochondrial disease associated seizures trial as some patients were unable or hesitant to travel to 
clinical trial sites due to the COVID-19 pandemic. The exact impact of any contagious disease outbreak may not 
be fully known until the applicable trials are complete or are submitted to the applicable regulatory authorities; 
•  we may be unable to enroll a sufficient number of patients in our clinical trials, the number of patients required 
for  clinical  trials  may  be  larger  than  we  anticipate,  enrollment  in  these  clinical  trials  may  be  slower  than  we 
anticipate or participants may drop out of these clinical trials, not comply with trial procedures, misrepresent their 
eligibility, or be lost to follow-up at a higher rate than we anticipate;   

• 

•  we may enroll patients in foreign countries in which clinical sites may have less experience with studies or the 
disease at issue, or may use a different standard of care; regulatory authorities may not accept the data generated 
at foreign sites; 
our third-party contractors may fail to comply with regulatory requirements or meet their contractual obligations 
to us in a timely manner, or at all, or we may be required to engage in additional clinical trial site monitoring; 
regulators, institutional review boards, institutional biosafety committees, or independent ethics committees may 
not  authorize  us  or  our  investigators  to  commence  or  continue  a  clinical  trial,  may  require  additional  data  or 
studies, or may require changes to our studies, including applications and protocols; 

• 

• 

• 

•  we may be unable to engage trial sites and contract research organizations or they may withdraw from our studies; 
•  we, regulators, institutional review boards, institutional biosafety committees, or independent ethics committees 
may  require  the  suspension  or  termination  of  studies  for  various  reasons,  including  noncompliance  with 
regulatory requirements or a finding that the participants are being exposed to unacceptable health risks; 
the cost of clinical trials of our products or our product candidates may be greater than we anticipate or we may 
have insufficient funds for a clinical trial or to pay the substantial user fees required by the FDA upon the filing 
of a marketing application; 
the supply or quality of our products or our product candidates or other materials necessary to conduct clinical 
trials of our products or our product candidates may be insufficient or inadequate; 
regulators  may  require  us  to  perform  additional  or  unanticipated  studies,  develop  additional  manufacturing 
information, or make changes to our manufacturing process to obtain approval; 
there may be changes in the applicable regulatory authorities’ approval requirements, which may render our data 
insufficient to obtain marketing approval; 
the FDA or comparable regulatory authorities may disagree with our intended indications; 
regulators may fail to approve or subsequently find fault with the manufacturing processes or facilities for clinical 
and future commercial supplies; 
the  FDA  or  comparable  regulatory  authorities  may  take  longer  than  we  anticipate  to  make  a  decision  on  our 
product candidates; or 

• 
• 

• 

• 

• 

•  we may decide to abandon the development of a product candidate or development program. 

66 

 
These risks may be increased for product candidates intended for the treatment of diseases for which there is little clinical 
experience, where we are using new endpoints or methodologies, or where the product candidates are new or novel.  For 
example, there are no marketed therapies approved to treat the underlying cause of nmDMD and there is limited clinical 
trial experience with respect to drugs to treat nmDMD and other diseases that we are studying or have studied. As a result, 
the  design  and  conduct  of  clinical  trials  for  these  diseases,  particularly  for  drugs  to  address  the  underlying  nonsense 
mutations causing these diseases in some  subsets of patients, is subject to increased risk.  Furthermore, the regulatory 
requirements regarding gene therapies are continually evolving and regulatory authorities have only approved a limited 
number of gene therapies.  Moreover, because gene therapy products are a relatively new development, less is known 
about such products and product candidates and, accordingly there is an increased risk that such products may not perform 
as expected. Regulatory review agencies and the requirements and guidelines they promulgate may lengthen the regulatory 
review  process,  require  us  to  perform  additional  or  larger  studies,  increase  our  development  costs,  lead  to  changes  in 
regulatory positions and interpretations, delay or prevent approval and commercialization of our product candidates or 
lead to significant post-approval studies, limitations or restrictions.  

We  may  also  experience  increased  risks  to  the  extent  that  product  candidates  require  a  specialized  delivery  device  or 
method.  For example, Upstaza is administered directly to the putamen in the brain using stereotactic surgery, a brain 
surgery requiring significant skill and training. There is little experience with such surgeries being used to deliver drugs 
and  for  such  surgeries  being  performed  on  children.  We  may  need  to  train  sufficient  brain  surgeons  to  perform  the 
procedure properly, which may expose us to additional regulatory risks as our interactions with such healthcare providers 
must comply with all applicable laws and regulations. As a result, we will need to invest significant resources to ensure 
all  personnel  and  contractors  are  adequately  trained  on  these  requirements  and  to  monitor  their  conduct.  Delivery  of 
Upstaza to the putamen also requires certain medical devices, which may result in our product candidate being deemed to 
be a combination product by the FDA, requiring compliance with the FDA’s device regulations and collaboration with 
medical device manufacturers.  

Our product development costs will increase if we experience delays in testing or marketing authorizations, and we may 
not have sufficient funding to complete the testing and approval process for any of our product candidates. We may be 
required to obtain additional funds to complete clinical trials and prepare for possible commercialization of our products 
and product candidates. We do not know whether any preclinical tests or clinical trials will begin as planned, will need to 
be restructured or will be completed on schedule, or at all. Significant preclinical or clinical trial delays also could shorten 
any periods during which we may have the exclusive right to commercialize our products or our product candidates and 
allow our competitors to bring products to market before we do or impair our ability to successfully commercialize our 
products or our product candidates, and so may harm our business, results of operations and financial condition. 

Subgroup, retrospective, post-hoc, and certain statistical analyses may not be reliable and typically will not form the 
basis for regulatory approval. 

In the event that a study’s primary endpoint is not met, companies may undertake certain analyses to further understand 
the data and potential reasons for the study results, including retrospective, post-hoc, and subgroup analyses.  Because 
these analyses are not pre-planned and studies may not be adequately designed for these analyses, they may not be reliable 
and typically will not form the basis for regulatory approval.  For example, after determining that we did not achieve the 
primary efficacy endpoint with the pre-specified level of statistical significance in our completed ACT DMD and Phase 
2b clinical trials of Translarna for the treatment of nmDMD, we performed subgroup, retrospective, and meta-analyses. 
We submitted these analyses to the FDA as part of our NDA, taking the position that the totality of clinical data from these 
trials support the clinical benefit of Translarna for the treatment of nmDMD. The FDA, however, did not agree that these 
analyses supported approval. 

Some of our favorable statistical data from these trials also are based on nominal p-values.  Nominal p-values are subject 
to certain limitations, and which, because of these limitations, regulatory authorities typically give less weight to nominal 
p-values, compared to regular p-values. For example, the p-values in ACT DMD for change from baseline at week 48 in 
the 6-minute walk test, or 6MWT (which we also refer to as 6-minute walk distance, or 6MWD) and each secondary end 
point timed function test were nominal p-values.  The FDA found that certain post-hoc adjustments, our retrospective 
analyses and our reliance on nominal p-values for some of our statistical data did not support approval.  

67 

An unfavorable view of our data and analyses by regulatory authorities has and could continue to negatively impact our 
ability to obtain or maintain marketing authorizations, which would have a material adverse effect on our revenue and 
would materially harm our business, financial results and results of operations. 

If  we  experience  delays  or  difficulties  in  the  enrollment  of  patients  in  our  clinical  trials,  our  receipt  of  necessary 
regulatory approvals could be delayed or prevented. 

We may not be able to initiate or continue clinical trials for our product candidates, including clinical trials due to the 
inability to enroll a sufficient number of patients.  Patient enrollment is affected a number of factors including: 

• 
• 
• 
• 
• 
• 

• 
• 
• 
• 
• 

the size of the patient population (many of our studies concern rare conditions with small patient populations); 
the availability of approved treatments; 
severity of the disease under investigation; 
eligibility criteria for the study in question; 
perceived benefits and risks of the product candidate under study; 
disruptions caused by and the willingness of patients to enroll in a clinical trial during outbreaks of contagious 
disease, such as COVID-19; 
efforts to facilitate timely enrollment in clinical trials; 
patient referral practices of physicians; 
competition from other clinical trials; 
the ability to monitor patients adequately during and after treatment; and 
proximity and availability of clinical trial sites for prospective patients. 

For example, we previously experienced delays in 2021 and 2022 enrolling a Phase 2/3 trial of vatiquinone in children 
with mitochondrial disease associated seizures as some patients were unable or hesitant to travel to clinical trial sites due 
to the COVID-19 pandemic.  

Enrollment delays in our clinical trials may result in increased development costs for our product candidates. Our inability 
to enroll, timely or at all, a sufficient number of patients in our clinical trials would result in significant delays or may 
require us to abandon one or more clinical trials altogether. 

If serious adverse side effects are identified during the development of any product candidate or for any product for 
which we have or may obtain marketing approval, we may need to abandon or limit our development and/or marketing 
of that product or product candidate. 

If  our  products  or  our  product  candidates  are  associated  with  undesirable  side  effects  or  have  characteristics  that  are 
unexpected, regulatory authorities, institutional review boards, institutional biosafety committees, or independent ethics 
committees may place our studies on clinical hold, withdraw or suspend study approvals, or require that we modify our 
protocols. We may also need to abandon their development or limit development to certain uses or subpopulations in which 
the undesirable side effects or other characteristics are less prevalent, less severe or more acceptable from a benefit-risk 
perspective. Adverse events or side effects may also result in study recruitment challenges, marketing authorization denial, 
limitations on the indicated use of a product, the inclusion of warnings, contraindications, or precautions on the label of 
any approved products, or significant conditions imposed on any approval, including the requirement of a risk evaluation 
and mitigation strategies, or REMS, costly post-marketing studies or clinical trials and surveillance to monitor the safety 
of the product.  Adverse effects may also prevent the adoption of a product, if it is approved. Many compounds that initially 
showed  promise  in  clinical  or  earlier  stage  testing  have  later  been  found  to  cause  side  effects  that  prevented  further 
development of the compound. Furthermore, we may be sued and held liable for harm caused by our products to patients 
as a result of the identification of undesirable side effects, which may cause reputational harm. 

For example, although we did not observe a pattern of liver enzyme elevations in our Phase 2 or Phase 3 clinical trials of 
Translarna, we did observe modest elevations of liver enzymes in some subjects in one of our Phase 1 clinical trials. These 
elevated enzyme levels did not require cessation of Translarna administration, and enzyme levels typically normalized 

68 

after completion of the treatment phase. We did not observe any increases in bilirubin, which can be associated with serious 
harm to the liver, in the Phase 1 clinical trial. 

In addition, in Study 009, our first Phase 3 clinical trial of Translarna for the treatment of nmCF, five adverse events in 
the Translarna arm of the trial that involved the renal system led to discontinuation. As compared to the placebo group, 
the  Translarna  treatment  arm  also  had  a  higher  incidence  of  adverse  events  of  creatinine  elevations,  which  can  be  an 
indication  of  impaired  kidney  function.  In  the  Translarna  treatment  arm,  more  severe  clinically  meaningful  creatinine 
elevations were reported in conjunction with cystic fibrosis pulmonary exacerbations. These creatinine elevations were 
associated with concomitant treatment with antibiotics associated with impaired kidney functions, such as aminoglycosides 
or vancomycin. This led to the subsequent prohibition of concomitant use of Translarna and these antibiotics, which was 
successful in addressing this issue in the clinical trial. 

The risk of finding adverse side effects may be particularly heightened in the case of gene therapies.  For instance, new 
gene copies may produce too much or too little of the desired protein or RNA, or the production of the desired protein or 
RNA  may  change  over  time.  Because  the  treatment  is  irreversible,  there  may  be  challenges  in  managing  side  effects. 
Adverse effects would not be able to be reversed or relieved by stopping dosing and might require us to develop additional 
clinical safety procedures. Furthermore, new gene copies may disrupt other normal biological molecules and processes. 
Adverse side effects may also be experienced by patients as a result of the process for administering the therapy or related 
procedures. 

There have been several significant adverse side effects in gene therapy treatments in the past, including reported cases of 
leukemia, immune- and complement-mediated responses, and death seen in other trials using other vectors. While new 
recombinant vectors have been developed to potentially reduce these side effects, gene therapy is still a relatively new 
approach to disease treatment and additional adverse side effects could develop. For instance, possible adverse side effects 
that  could  occur  include  an  immunologic  or  complement-mediated  reactions  early  after  administration  which,  could 
substantially  limit  the  effectiveness  of  the  treatment.  Depending  on  the  vector,  additional  manufacturing,  clinical,  and 
preclinical testing may be required, as well as additional analyses, assessments, and potential long-term patient and clinical 
study subject monitoring and sample testing and associated regulatory reporting. Serious adverse events in our clinical 
trials,  or  other  clinical  trials  involving  gene  therapy  products  or  our  competitors’  products,  even  if  not  ultimately 
attributable  to  the  relevant  product  candidates,  and  the  resulting  publicity,  could  further  adversely  impact  our  product 
candidates in the form of increased government regulation, unfavorable public perception, potential regulatory delays, 
stricter labeling requirements, and a decrease in demand. 

If, following approval, we or others identify previously unknown side effects, if such side-effects are severe, or if known 
side effects are more frequent or severe than in the past then our marketing authorizations may be restricted or withdrawn, 
changes  may  be  required  to  the  product’s  label,  sales  may  be  adversely  impacted,  we  may  be  required  to  undertake 
additional studies or trials, and government investigations or litigation, including product liability claims, may be brought 
against us. Additionally, if the safety warnings in our product labels are not followed, adverse medical situations in patients 
may arise, resulting in negative publicity and potential lawsuits. Any of these occurrences would limit or prevent us from 
commercializing  our  products,  which  would  have  a  material  adverse  effect  on  our  business,  financial  results  and 
operations. 

Certain of our products and product candidates may be difficult to produce, presenting manufacturing challenges that 
may delay product development and regulatory approval. 

Manufacturers of pharmaceutical products must comply with strictly enforced manufacturing and quality requirements, 
including cGMP requirements, state and federal regulations, as well as ex-U.S. requirements when applicable.  These may 
be particularly difficult to meet for complex products such as biologic and gene therapy products.  Any failure to meet the 
applicable manufacturing and quality requirements could lead to a delay or interruption in development programs, delays 
in receiving regulatory approval, and consequences should we receive marketing approval.   

The  manufacture  of  biologic  and  gene  therapy  products  is  technically  complex,  requires  extreme  precision  to  meet 
specification requirements and necessitates substantial expertise and capital investment. Production difficulties caused by 
unforeseen events, even if seemingly minimal, may delay the availability of material for clinical studies and commercial 

69 

product. For example, given the nature of biologics manufacturing, there is a risk of contamination. Any contamination 
could  materially  adversely  affect  our  ability  to  produce  our  gene  therapy  product  candidates  on  schedule  and  could, 
therefore, harm our results of operations and cause reputational damage. 

In addition, gene therapy products have only in limited cases been manufactured at scales sufficient for pivotal trials and 
commercialization. Few pharmaceutical contract manufacturers specialize in gene therapy products and those that do are 
still developing appropriate processes, controls and facilities for large-scale production. While we believe that there are 
alternative sources of supply that can satisfy our clinical and commercial requirements for Upstaza, we cannot be certain 
that we will be able to identify and establish relationships with such sources, if necessary, in a timely manner or at all, and 
what the terms and costs of such new arrangements would be, or that such alternative suppliers would be able to supply 
our potential commercial needs. To the extent that we decide to manufacture our own clinical and commercial supply of 
Upstaza as an alternative source of supply, there is no guarantee that we will be able to cost effectively produce sufficient 
quantities of our program material. Any switch from our current manufacturer would result in a significant delay, would 
require regulatory authority approval, and cause material additional costs. 

Furthermore, some of the raw materials and other components required in our manufacturing process are derived from 
diverse  biologic  sources  that  may  be  difficult  to  procure  and  may  be  subject  to  contamination  or  recall.  Any  material 
shortage, supply chain disruption, contamination recall or restriction on the use of biologically derived substances in the 
manufacture  of  our  product  candidates  could  adversely  impact  or  disrupt  the  production  and  commercialization  of 
products.   

We have manufacturing services related to the production of plasmid DNA and AAV vectors for gene therapy applications 
for external customers at our Hopewell Facility. We have limited experience producing plasmid DNA and AAV vectors 
for  third  party  customers.  If  we  are  unable  to  manufacture  these  product  materials  to  the  required  specifications  and 
regulatory requirements for the third parties we contract with, our business, financial condition, and results of operations 
could be materially adversely affected and we may become subject to regulatory or contractual actions, may need to expend 
significant  time  and  costs  to  remedy  issues,  and  we  may  forgo  sales,  incur  liabilities  or  lose  customers,  which  would 
materially adversely affect our business, financial condition and results of operations.  

Finally,  we  and  our  third  party  manufacturers  may  experience  any  number  of  unforeseen  issues,  unforeseen  delays, 
including equipment failure, labor shortages, natural disasters, power failures, transportation difficulties, quality control 
or other issues, including those resulting from compliance with regulatory requirements, as further described in these risks, 
that could prevent us from realizing the intended benefits of our manufacturing strategy. 

Any of our products or any other product candidate that receives marketing authorization may fail to achieve the degree 
of market acceptance by physicians, patients, third-party payors and others in the medical community necessary for 
commercial success. 

Even if we are successful in obtaining and maintaining marketing authorizations, our products may not gain sufficient 
market acceptance by physicians, patients, third-party payors and others in the medical community. Third-party payors 
may require prior authorizations or failure on another type of treatment before covering a particular drug, particularly with 
respect to higher-priced drugs. Decreases in third-party reimbursement for a product or a decision by a third-party payor 
to not cover a product could reduce physician usage of the product. If these products do not achieve an adequate level of 
acceptance, we may not generate significant product revenues or any profits from operations. 

The degree of market acceptance of our products or product candidates, if approved for commercial sale, will depend on 
a number of factors, including: 

• 
• 
• 
• 
• 

the efficacy and potential advantages, as well as cost effectiveness compared to alternative treatments; 
the prevalence and severity of any side effects, as well as perceived safety; 
limitations or warnings contained in, as well as permitted claims based on the product’s FDA-approved labeling; 
distribution and use restrictions imposed by the FDA or which we voluntarily implement; 
the ability to offer our products or product candidates for sale at competitive prices; 

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• 

• 
• 
• 

• 

• 
• 

the willingness of the target patient population to try new therapies and of physicians to prescribe these therapies. 
For example, gene therapy remains a novel technology, must be administered directly to the brain via a surgery 
and public perception may be influenced by claims that gene therapy is unsafe, which may cause gene therapy to 
not gain acceptance by the public or the medical community; 
the convenience and ease of administration compared to alternative treatments; 
the strength of marketing and distribution support; 
sufficient third-party coverage or reimbursement and, where applicable, our ability to obtain pricing approvals 
which is separate from the marketing authorization process; 
adverse  publicity  about  our  and  our  competitors’  products  or  product  candidates  or  favorable  publicity  about 
competitive  products  or  product  candidates.  For  example,  earlier  gene  therapy  trials  conducted  by  other 
organizations  have  led  to  several  well-publicized  adverse  events,  including  cases  of  leukemia,  immune-  and 
complement-mediated adverse events, and death seen in other such organizations’ trials using vectors; 
the results of studies of the product in other indications or similar products; and 
any restrictions on concomitant use of other medications. 

Obtaining  coverage  and  reimbursement for  a product  from  third-party payers  is  a  time-consuming  and  costly  process.  
Failure to obtain adequate reimbursement may significantly impact the adoption and sale of products.  Market acceptance 
and obtaining reimbursement coverage may be particularly challenging in the case of gene therapies, where the cost of a 
single administration may be substantial and adequate coverage and reimbursement will be essential for patients to afford 
the treatment. Payors may require us to provide supporting scientific, clinical and cost-effectiveness data, which we may 
not be able to provide. Moreover, ethical, social and legal concerns about certain treatments, such as gene therapy, could 
result in additional regulations restricting or prohibiting sale of our products. 

In the United States, third-party payers, including government payers such as the Medicare and Medicaid programs, play 
an important role in determining the extent to which new drugs and biologics will be covered and reimbursed. Expensive 
specialty drugs in particular are often subject to restriction. The Medicare and Medicaid programs increasingly are used 
as models for how private payers and government payers develop their coverage and reimbursement policies. We cannot 
be assured that Medicare or Medicaid will cover our product candidates that may be approved or provide reimbursement 
without restriction and at adequate levels to realize a sufficient return on our investment. Our rebate payments may increase 
or our prices be adjusted under value-based purchasing arrangements based on evidence-based measures or outcomes-
based measures for a patient or beneficiary based on use of our drug. Moreover, reimbursement agencies in the EU may 
be more conservative than CMS. It is difficult to predict what third-party payers will decide with respect to the coverage 
and reimbursement for our products for which we obtain marketing approval. Additionally, within Europe, each country 
has  its  own  reimbursement  regime  employing  various  health  technology  assessment  approaches  to  assess  the  cost-
effectiveness of the product (for example, in the United Kingdom a HTA assessment is conducted by NICE) which may 
significantly affect the effective access to the market. 

Our ability to negotiate, secure and maintain third-party coverage and reimbursement may also be affected by political, 
economic  and  regulatory  developments.  Governments  continue  to  impose  cost  containment  measures,  and  third-party 
payors are increasingly challenging prices charged for medicines and examining their cost effectiveness, in addition to 
their safety and efficacy. These and other similar developments could significantly limit the degree of market acceptance 
of our products or any of our other product candidates that receive marketing authorization. 

If we are unable to establish or maintain sales, marketing and distribution capabilities or enter into agreements with 
third  parties  to  market,  sell  and  distribute  our  products  or  product  candidates,  we  may  not  be  successful  in  our 
continuing efforts to commercialize our products or any other product candidate if and when they are approved. 

Our  ongoing  commercial  strategy  for  our  products  and  any  other  product  candidate  that  may  receive  marketing 
authorization  involves  the  development  of  a  commercial  infrastructure  that  spans  multiple  jurisdictions  and  is  heavily 
dependent upon our ability to continue to build an infrastructure that is capable of implementing our global commercial 
strategy.  The  establishment  and development of our  commercial  infrastructure will  continue  to be  expensive  and  time 
consuming, and we may not be able to develop our commercial organizations in all intended territories, including in the 
United States, in a timely manner or at all. Doing so will require a high degree of coordination and compliance with laws 
and regulations in numerous territories, including restrictions on advertising practices, enforcement of intellectual property 

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rights,  restrictions  on  pricing  or  discounts,  transparency  laws  and  regulations,  and  unexpected  changes  in  regulatory 
requirements and tariffs. If we are unable to effectively coordinate such activities or comply with such laws and regulations, 
our ability to commercialize our products or any other product candidates that may receive marketing authorization will 
be adversely affected. If we are unable to establish and maintain adequate sales, marketing and distribution capabilities, 
whether  independently  or  with  third  parties,  we  may  not  be  able  to  generate  product  revenue  consistent  with  our 
expectations and may not become profitable. 

There are risks involved with establishing our own sales and marketing capabilities and entering into arrangements with 
third parties to perform these services. For example, recruiting and training an internal commercial team is expensive and 
time consuming and could delay commercialization efforts. If a commercial launch for any product or product candidate 
for which we recruit a commercial team and establish marketing capabilities is delayed or does not occur for any reason, 
we  would  have  prematurely or unnecessarily  incurred  these  commercialization  expenses.  This  may be  costly,  and our 
investment would be lost if we cannot retain or reposition such personnel. 

The arrangements that we have entered into, or may enter into, with third parties to perform sales and marketing services 
will generate lower product revenues or profitability of product revenues to us than if we were to market and sell any 
products that we develop ourselves. In addition, we may not be successful in entering into arrangements with third parties 
to sell and market our product candidates or may be unable to do so on terms that are favorable to us. We have little control 
over such third parties, and any of them may fail to devote the necessary resources and attention to sell and market our 
products effectively. 

If we do not establish sales and marketing capabilities successfully, either on our own or in collaboration with third parties, 
we will not be successful in commercializing our products or product candidates.  Factors that may materially affect our 
efforts to commercialize our products include: 

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our ability to recruit, train and retain adequate numbers of effective sales and marketing personnel; 
our ability to monitor the legal and regulatory compliance of sales and marketing personnel; 
an inability to secure adequate coverage and reimbursement by government and private health plans; 
reduced realization on government sales from mandatory discounts, rebates and fees, and from price concessions 
to  private  health  plans  and  pharmacy  benefit  managers  necessitated  by  competition  for  access  to  managed 
formularies; 
the clinical indications for which the products are approved and the claims that we may make for the products; 
limitations or warnings, including distribution or use restrictions, contained in the products’ approved labeling; 
any distribution and use restrictions imposed by the FDA or to which we agree as part of a mandatory REMS or 
voluntary risk management plan; 
liability  for  sales  or  marketing  personnel  who  fail  to  comply  with  the  applicable  legal  and  regulatory 
requirements; 
our  ability  to  implement  third-party  marketing  and  distribution  relationships  on  favorable  terms,  or  at  all,  in 
territories where we do not pursue direct commercialization; 
the ability of our commercial team to obtain access to or persuade adequate numbers of physicians to prescribe 
our current or any future products; 
the lack of complementary products to be offered by our commercial team, which may put us at a competitive 
disadvantage relative to companies with more extensive product lines; and 
unforeseen costs and expenses associated with creating an independent commercial organization. 

Any of these factors, individually or as a group, if not resolved in a favorable manner may have a material adverse effect 
on our business and results of operations. Similar risks apply in those territories where any of our products are available 
on a reimbursed basis under an EAP program. 

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A substantial portion of our commercial sales currently occurs in territories outside of the United States which subjects 
us to additional business risks that could adversely affect our revenue and results of operations. 

We commercialize Translarna, Upstaza, Tegsedi and Waylivra outside of the United States. We have operations in multiple 
European  countries,  Latin  America  and  other  territories.  We  expect  that  we  will  continue  to  expand  our  international 
operations in the future, including in emerging growth markets, pending successful completion of the applicable regulatory 
processes. International operations inherently subject us to a number of risks and uncertainties, including: 

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political,  regulatory,  compliance  and  economic  developments  that  could  restrict  our  ability  to  manufacture, 
market and sell our products, including the Russia-Ukraine conflict and related sanctions that have been imposed 
by various countries in response thereto; 
financial risks such as longer payment cycles, difficulty collecting accounts receivable, potentially high inflation 
rates, sustained high interest rates and exposure to fluctuations in foreign currency exchange rates; 
difficulty in staffing and managing international operations; 
potentially negative consequences from changes in or interpretations of tax laws; 
changes in international medical reimbursement policies and programs; 
unexpected changes in healthcare policies of ex-U.S. jurisdictions; 
trade protection measures, including import or export licensing requirements and tariffs; 
our ability to develop relationships with qualified local distributors and trading companies; 
political and economic instability in particular ex-U.S. economies and markets, in particular in emerging markets, 
for example in Brazil; 
diminished protection of intellectual property in some countries outside of the United States; 
differing labor regulations and business practices;  
regulatory  and  compliance  risks  that  relate  to  maintaining  accurate  information  and  control  over  sales  and 
distributors’ and service providers’ activities that may fall within the purview of the Foreign Corrupt Practices 
Act, UK Bribery Act or similar local regulation; and 
various effects and responsive measures relating to outbreaks of contagious disease, such as COVID-19; 

For example, the Brazilian Ministry of Health has previously experienced significant administrative delays processing 
centralized  group  purchase  orders.  Almost  all  of  our  product  revenue  for Translarna in  Brazil  is  attributable  to  such 
purchase orders. These centralized group purchase order delays have caused, and may continue to cause, fluctuations in 
our ability to generate revenue in Brazil. 

In addition, some countries in which a product candidate is not approved allow patients access to the product candidate 
through  other  legal  mechanisms,  including  court  intervention  or  EAP  programs,  if  the  product  is  approved  in  another 
jurisdiction. The  price  that  is  ultimately  approved  by  governmental  authorities  in  any  country  pursuant  to  commercial 
pricing and reimbursement processes may be significantly lower than the price we are able to charge for sales under such 
legal mechanisms and we may become obligated to repay such excess amount.  

Some  of  the  countries  in  which  our  products  are  available  for  sale  are  in  emerging  markets.  Some  countries  within 
emerging markets, including those in Latin America, may be especially vulnerable to periods of global or regional financial 
instability or may have very limited resources to spend on. We also may be required to increase our reliance on third-party 
agents  within  less  developed  markets.  In  addition,  many  emerging  market  countries  have  currencies  that  fluctuate 
substantially and if such currencies devalue and we cannot offset the devaluations, our financial performance within such 
countries could be adversely affected. 

Furthermore, in some countries, including Brazil and Russia, orders for named patient sales may be for multiple months 
of therapy, which can lead to an unevenness in orders which could result in significant fluctuations in quarterly net product 
sales. Other factors may also contribute to fluctuations in quarterly net product sales including a product’s availability in 
any particular territory, government actions, economic pressures, political unrest and other factors. Net product sales are 
impacted  by  factors  such  as  the  timing  of  decisions  by  regulatory  authorities  and  our  ability  to  successfully  negotiate 
favorable  pricing  and  reimbursement  processes  on  a  timely  basis  in  the  countries  in  which  we  have  or  may  obtain 
regulatory approval, including the United States, EEA and other territories. 

73 

Any  of  these  factors  may,  individually  or  as  a  group,  have  a  material  adverse  effect  on  our  business  and  results  of 
operations. As we continue to expand our existing international operations, we may encounter new risks. 

Laws  and  regulations  governing  export  restrictions  and  economic  sanctions  may  preclude  us  from  developing  and 
selling certain products, generating revenue from such products, and manufacturing certain materials outside of the 
United States. 

Many countries, including the United States, restrict the export or import of products to or from certain countries through, 
for  example,  bans,  sanction  programs,  and  boycotts.  Such  restrictions  may  preclude  us  from  supplying  products  or 
generating revenue in certain countries or may require an export license prior to the export of the controlled item. Various 
laws, regulations and executive orders also restrict the use and dissemination outside of the United States, or the sharing 
with certain non-U.S. nationals, of information classified for national security purposes, as well as certain products and 
technical data relating to those products. Furthermore, if we, or third parties acting on our behalf, do not comply with these 
restrictions, we may be subject to substantial civil and criminal penalties and suspension or debarment from government 
contracting.  

Our activities outside of the United States, require that we dedicate resources to comply with these laws. Many of our 
customers and suppliers are ex-U.S. entities or have significant ex-U.S. operations. Although these restrictions have not 
affected our operations in the past, there is a risk that they could do so in the future as additional geographic regions and 
entities may become subject to such restrictions. The imposition of new or additional economic and trade sanctions against 
our major customers or suppliers or financial counterparties or intermediaries could result in our inability to sell to, and 
generate  revenue  from  such  customers  or  purchase  materials  from  such  suppliers.  For  example,  we  make  sales  of 
Translarna through a distributor to the Ministry of Health of the Russian Federation to access Russian nmDMD patients. 
Our  ability  to  generate  and  realize  revenue  in  Russia  may  be  materially  and  adversely  impacted  as  many  countries, 
including the United States, have imposed and may continue to consider imposing additional enhanced export controls on 
certain products and sanctions on certain industry sectors and parties in Russia in connection with the Russia-Ukraine 
conflict. We also contract with government-owned hospitals and third-party manufacturers located in China, which has 
recently been involved in political conflict with the United States. This conflict has increased the likelihood of restrictions 
that could materially and adversely affect our clinical trial sites located in China, our ability to obtain certain supplies, our 
ability to manufacture certain product candidates and our ability to potentially commercialize products in China. If our 
activities are affected because of these or other such restrictions, sanctions, or controls, our business, financial condition 
and results of operations could be materially and adversely affected. As a result of restrictive export laws, our customers 
may also seek to obtain a greater supply of similar or substitute products from our competitors that are not subject to these 
restrictions, which could materially and adversely affect our business, financial condition and results of operations. 

We face substantial competition, which may result in others discovering, developing or commercializing products before 
or more successfully than we do. 

The development and commercialization of new drug products is highly competitive. We face competition with respect to 
our current products and product candidates and any products we may seek to develop or commercialize in the future from 
major pharmaceutical companies, specialty pharmaceutical companies, and biotechnology companies worldwide. Other 
gene  therapy  companies  may  in  the  future  decide  to  utilize  existing  technologies  to  address  unmet  needs  that  could 
potentially compete with our product candidates. 

There is currently no marketed therapy for nmDMD, other than Translarna in the EEA. Santhera Pharmaceuticals has 
received approval of Agramee (vamorolone) in the United States for DMD patients ages 2 and up and in the EU and United 
Kingdom for patients ages 4 years and older. Sarepta Therapeutics has received approval of Elevidys for DMD patients 4 
to 5 years of age with a confirmed mutation in the “DMD gene” in the United States (Accelerated Approval granted with 
Full Approval pending) and United Arab Emirates and Qatar. Sarepta Therapeutics has also received approval in the United 
States  for  two  treatments  (Exondys  51  (eteplirsen)  and  Vyondys  53  (golodirsen))  addressing  the  underlying  cause  of 
disease  for  different  mutations  in  the  DMD  gene.  Additionally,  the  FDA  granted  accelerated  approval  to  Viltepso 
(viltolarsen) from NS Pharma for the treatment of DMD in patients with exon 53 skipping and Sarepta (Casimersen (SRP 
4045) for the treatment of DMD in patients with exon 45 skipping. Viltepso (viltolarsen) from NS Pharma is also approved 
in Japan. Other biopharmaceutical companies are developing treatments addressing the underlying cause of disease for 

74 

different  mutations  in  the  DMD  gene,  including,  Dyne  Therapeutics  (DYNE-251),  Wave  Life  Sciences  (WVE-N53), 
Daiichi Sankyo (DS 5141)), Nippon Shinyaku (Viltolarsen (NS 065/NCNP 01) and NS 089/NCNP 02)), and Astellas (AT 
702).  Additionally,  other  pharmaceutical  companies  are  developing  micro  dystrophin  gene  therapies  for  patients  with 
DMD regardless of genotype, including Pfizer (PF 06939926) and Solid Biosciences (SGT 001). 

Although the FDA has not approved a corticosteroid specifically for DMD in the United States other than Emflaza, we 
face competition in the United States in the DMD market from prednisone/prednisolone, which, while not approved for 
DMD  in  the  United  States,  is  generically  available  and  has  been  prescribed  off  label  for  DMD  patients.  Santhera  has 
received approval of Agramee (vamorolone), in the United States for DMD patients ages 2 and up and in the European 
Union and United Kingdom for patients ages 4 years and older. With the expiration of Emflaza’s orphan exclusivity for 
treatment of DMD in patients five years and older in February 2024, we expect to face competition from generic versions 
of Emflaza for this indication. 

Currently, no other treatment options are available for the underlying cause of AADC deficiency. Additionally, we are not 
aware of any late-stage development product candidates for AADC deficiency. 

There  are  several  pharmaceutical  and  biotechnology  companies  engaged  in  the  development  or  commercialization  of 
products against targets that are also targets of Tegsedi and Waylivra. For example, Ionis is developing Olezarsen for the 
treatment of FCS. Additionally, Waylivra faces competition from Myalept (metreleptin) produced by Chesi Farmaceutica, 
Inc., which is currently approved in Brazil for use in generalized lipodystrophy patients. Tegsedi faces competition from 
drugs like Onpattro (patisiran) which was launched by Alnylam Pharmaceuticals in the United States in 2018 and received 
approval  in  Brazil  for  the  treatment  of  hATTR  amyloidosis  in  2020  as  was  well  as  AMVUTTRA  (vutrisiran)  which 
Alnylam  Pharmaceuticals  received  approval  for  in  the  United  States  and  Brazil  in  2022  for  the  treatment  of  the 
polyneuropathy  of  hATTR  amyloidosis  in  adults.  Vyndaqel  (tafamids  meglumine)  and  Vyndamax  (tafamidis)  are 
commercialized in the United States, EU and some countries in Latin America by Pfizer. Other companies are also pursuing 
product  candidates  for  the  treatment  of  ATTR  Amyloidosis  with  polyneuropathy  including  BridgeBio  Pharma  (AG 
10), Intellia Therapeutics (NTLA2001), Proclara Biosciences (NPT 189) and SOM Biotech (tolcapone). For Waylivra, 
Ionis  is  developing  Olezarsen  for  the  treatment  of  FCS.  Waylivra  also  faces  competition  from  Myalept,  (metreleptin) 
produced by Cheisi Farmaceutica, Inc., currently approved in Brazil for use in generalized lipodystrophy patients.  

Evrysdi, an orally bioavailable treatment, faces competition from treatments that are not orally bioavailable, including 
Spinraza (nusinersen), a drug developed by Ionis and marketed by Biogen, which is approved to treat SMA and Zolgensma 
(onasemnogene abeparvovec), a gene therapy drug developed by AveXis, Inc., (acquired by Novartis in 2018), which is 
approved in the United States and Japan for the treatment of SMA in patients under 2 years of age and in Europe for babies 
and young children who weigh up to 21 kilograms. Novartis is also developing OAV-101, an intrathecal administration of 
Zolgensma, for SMA patients ages ≥ 2 to < 18 years of age. Biogen is developing a higher dose regimen of nusinersen 
with potential for improved efficacy and evaluating an implantable medical device to enable subcutaneous delivery of 
nusinersen.  Other  companies  are  also  pursuing  product  candidates  for  the  treatment  of  SMA,  including  Scholar  Rock 
(apitegromab, SRK-015), Biohaven (Taldefgrobep alfa), Roche Pharmaceuticals (RO-7204239/GYM-329), Biogen / Ionis 
(BIIB-115/ION-306) and NMD Pharma (NMD-670). 

For additional discussion regarding the competition we face with respect to our current product candidates, see “Item 1. 
Business-Competition.” 

Our competitors may develop products that are more effective, safer, more convenient or less costly than any that we are 
marketing  or  developing  or  that  would  render  our  products  or  product  candidates  obsolete  or  non-competitive.  Our 
competitors may also obtain marketing authorization for their products more rapidly than we may obtain approval for our 
products and product candidates, which could result in our competitors establishing a strong market position before we 
are able to enter the market. 

We believe that many competitors are attempting to develop therapeutics for the target indications of our products and 
product candidates, including academic institutions, government agencies, public and private research organizations, large 
pharmaceutical companies and smaller more focused companies. 

75 

Many of our competitors may have significantly greater financial resources and expertise in research and development, 
manufacturing,  preclinical  testing,  conducting  clinical  trials,  obtaining  regulatory  approvals  and  marketing  approved 
products than we do. Mergers and acquisitions in the pharmaceutical and biotechnology industries may result in even more 
resources being concentrated among a smaller number of our competitors. Smaller and other early stage companies may 
also  prove  to  be  significant  competitors,  particularly  through  collaborative  arrangements  with  large  and  established 
companies. These third parties compete with us in recruiting and retaining qualified scientific and management personnel, 
establishing clinical trial sites and patient registration for clinical trials, as well as in acquiring technologies complementary 
to or necessary for our programs. 

Our products or product candidates may become subject to unfavorable pricing regulations, third-party reimbursement 
practices or healthcare reform initiatives, which would harm our business. 

We may not obtain adequate coverage or reimbursement for our products, or we may be required to sell our products at an 
unsatisfactory price. In addition, obtaining pricing, coverage and reimbursement approvals can be a time consuming and 
expensive process. Our business would be materially adversely affected if we do not receive these approvals on a timely 
basis. 

The regulations and practices that govern marketing authorizations, pricing, coverage and reimbursement for new drug 
products  vary  widely  from  country  to  country.  Current  and  future  legislation  may  significantly  change  the  approval 
requirements  in  ways  that  could  involve  additional  costs  and  cause  delays  in  obtaining  approvals.  Some  countries, 
including almost all of the member states of the EEA, require approval of the sale (list) price of a drug before it can be 
marketed. In many countries, the pricing review period begins after marketing or product licensing approval is granted. In 
some ex-U.S. markets, including the European market, prescription pharmaceutical pricing remains subject to continuing 
governmental control even after initial approval is granted. As a result, we might obtain marketing authorization for a 
product in a particular country, but then be subject to price regulations, in some countries at national as well as regional 
levels,  that  delay  our  commercial  launch  of  the  product,  possibly  for  lengthy  time  periods,  and  negatively  impact  the 
revenues we are able to generate from the sale of the product in that country. Adverse pricing limitations may hinder our 
ability  to  recoup  our  investment  in  one  or  more  products  or  other  product  candidates,  even  following  marketing 
authorization. 

Our ability to successfully commercialize our products or product candidates that may receive marketing authorization 
will depend in large part on the extent to which coverage and reimbursement for these products and related treatments will 
be available from government health administration authorities, private health insurers, managed healthcare organizations 
and other third-party payors and organizations. Government authorities and other third-party payors, such as private health 
insurers and managed healthcare organizations, decide which medications they will pay for and establish reimbursement 
conditions  and  rates.  A  primary  trend  in  the  EU  and  U.S.  healthcare  industries  and  elsewhere  is  cost  containment. 
Government authorities, including the United States government and state legislatures, and other third-party payors have 
attempted to control costs by limiting coverage and the amount of reimbursement for particular medications. Prices at 
which our products are reimbursed can be subject to challenge, reduction or denial by the government and other payers. 
Increasingly, third-party payors are requiring that drug companies provide them with discounts off the products’ sale (list) 
prices and are challenging the prices manufacturers charge for medical products. We cannot be sure that coverage will be 
available  for  any  product  or  product  candidate  that  we  may  commercialize  and,  if  coverage  is  available,  the  level  of 
reimbursement is also uncertain. 

Reimbursement levels may impact the demand for, or the price of, any product or product candidate for which we obtain 
marketing authorization. Obtaining reimbursement for our products has been and is expected to continue to be, particularly 
difficult due to price considerations typically associated with drugs that are developed to treat conditions that affect a small 
population of patients. In addition, third-party payors are likely to impose strict requirements for reimbursement of a higher 
priced drug, such as prior authorization and the requirement to try other therapies first, or high co-payments which can 
result in patient rejection. Decreases in third-party reimbursement for a product or a decision by a third-party payor to not 
cover a product could reduce physician usage of the product. If reimbursement is not available or is available only on a 
limited basis, we may not be able to successfully commercialize any product or product candidate for which we have 
obtained or may obtain marketing authorization. 

76 

There may be significant delays in obtaining coverage for newly approved drugs, and coverage may be more limited than 
the  drug’s  approved  indications  as  determined  by  the  applicable  regulatory  authority.  Moreover,  eligibility  for 
reimbursement does not imply that any drug will be paid for in all cases or at a rate that covers our costs, including research, 
development, manufacture, sale and distribution. Interim reimbursement levels for new drugs, if applicable, may also not 
be sufficient to cover our costs and may not be made permanent, and programs intended to provide patient assistance until 
coverage is established can be very costly and limited in duration by law. Reimbursement rates may vary according to the 
use of the drug and the clinical setting in which it is used, may be based on reimbursement levels already set for lower cost 
drugs,  and  may  be  incorporated  into  existing  payments  for  other  services.  Further,  coverage  policies  and  third-party 
reimbursement rates may change at any time. Even if favorable coverage and reimbursement status is attained for one or 
more products for which we receive regulatory approval, less favorable coverage policies and reimbursement rates may 
be implemented in the future. 

Net prices for drugs may be reduced by mandatory discounts or rebates required by government healthcare programs or 
private payors and by any future relaxation of laws, enforcement policies or administrative determinations with respect to 
the importation of drugs into the United States from other countries where they may be sold at lower prices. 

In the United States, third-party payors include federal healthcare programs, such as Medicare, Medicaid, TRICARE, and 
Veterans  Health  Administration  programs;  managed  care  providers,  private  health  insurers  and  other  organizations. 
Several of the U.S. federal healthcare programs establish ceiling prices or require that drug manufacturers extend discounts 
or pay rebates to certain programs in order for their products to be covered and reimbursed. For example, the Medicaid 
Drug Rebate Program requires pharmaceutical manufacturers of covered outpatient drugs to enter into and have in effect 
a  national  rebate  agreement  with  the  federal  government  as  a  condition  for  coverage  of  the  manufacturer’s  covered 
outpatient drug(s) by state Medicaid programs. The amount of the rebate for each product is based on a statutory formula 
and may be subject to an additional discount if certain pricing increases more than inflation. State Medicaid programs and 
Medicaid managed care plans can seek additional “supplemental” rebates from manufacturers in connection with states’ 
establishment of preferred drug lists. A further requirement for Medicaid coverage is that manufacturers of single source 
and innovator multiple source drugs enter into a Master agreement and Federal Supply Schedule, or FSS, agreement with 
the Secretary for Veterans Affairs and charge no more than statutory ceiling prices to the Department of Veteran Affairs, 
the Department of Defense and certain other federal agencies. 

Similarly, in order for a covered outpatient drug to receive federal reimbursement under the Medicare Part B and Medicaid 
programs,  the  manufacturer  must  extend  discounts  on  the  covered  outpatient  drug  to  entities  that  are  enrolled  and 
participating in the 340B drug pricing program, which is a federal program that requires manufacturers to provide discounts 
to  certain  statutorily-defined  safety-net  providers.  The  340B  discount  for  each  product  is  calculated  based  on  certain 
Medicaid Drug Rebate Program metrics that manufacturers are required to report to CMS. 

Emflaza is also eligible for reimbursement under the Medicare Part D program. Under Part D, Medicare beneficiaries may 
enroll in prescription drug plans offered by private entities, which will provide coverage of outpatient prescription drugs. 
Part D prescription drug formularies are required to include drugs within each therapeutic category and class of covered 
Part D drugs, though not necessarily all the drugs in each category or class. Any negotiated prices for our products covered 
by a Part D prescription drug plan likely will be lower than the prices we might otherwise obtain, and payment of Medicare 
Coverage  Gap  discounts  may  further  reduce  realization  on  Part  D  drugs.  Further,  CMS  is  proposing  to  relax  Part D 
coverage requirements to give plans more leverage in negotiating their formularies. 

With respect to drugs eligible for reimbursement under Medicare Part B, on November 27, 2020, CMS issued an interim 
final rule implementing a Most Favored Nations payment model under which reimbursement for certain Medicare Part B 
drugs and biologicals will be based on a price that reflects the lowest per capita Gross Domestic Product-adjusted (GDP-
adjusted)  price  of  any  non-U.S.  member  country  of  the  Organisation  for  Economic  Co-operation  and  Development 
(OECD) with a GDP per capita that is at least sixty percent of the U.S. GDP per capita.  This rule now has been rescinded 
but other measures,  including  the Inflation Reduction Act  of 2022, or  IRA, have been  enacted  to  address  the  costs  of 
pharmaceuticals. Such rules and any additional healthcare reform measures could further constrain our business or limit 
the  amounts  that  federal  and  state  governments  will  pay  for  healthcare  products  and  services,  which  could  result  in 
additional pricing pressures. 

77 

In addition, U.S. private health insurers often rely upon Medicare coverage policies and payment limitations in setting 
their  own  coverage  and  reimbursement  policies.  Any  such  coverage  or  payment  limitations  may  result  in  a  similar 
reduction  in  payments  from  non-governmental  payors.  Payment  by  private  payors  is  also  subject  to  payor-determined 
coverage  and  reimbursement policies  that  vary  considerably  and  are  subject  to  change without notice.  We  expect  that 
coverage and reimbursement of Emflaza in the United States will vary from commercial payor to commercial payor. Many 
commercial payors, such as managed care plans, manage access to prescription drugs partly to control costs to their plans, 
and may use drug formularies and medical policies to limit their exposure. Exclusion from policies can directly reduce 
product usage in the payor’s patient population and may negatively impact utilization in other payor plans, as well. 

There has been recent negative publicity and increasing legislative and public scrutiny around pharmaceutical drug pricing 
in the U.S., in particular with respect to orphan drugs and specifically with respect to Emflaza. Moreover, U.S. government 
authorities and third-party payors are increasingly attempting to limit or regulate drug prices and reimbursement, often 
with  particular  focus  on  orphan  drugs.  These  dynamics  may  give  rise  to  heightened  attention  and  potential  negative 
reactions  to  pricing  decisions  for  Emflaza  and  products  for  which  we  may  receive  regulatory  approval  in  the  future, 
possibly limiting our ability to generate revenue and attain profitability. 

Moreover,  in  2017,  the  U.S.  Congress  modified  and  amended  certain  provisions  of  the  2010  U.S.  healthcare  reform 
legislation  (the  Patient  Protection  and  Affordable  Care  Act  of  2010,  as  amended  by  the  Health  Care  and  Education 
Reconciliation Act of 2010, known collectively as the Affordable Care Act), which could have an impact on coverage and 
reimbursement for healthcare items and services covered by the federal and state healthcare programs as well as plans in 
the private health insurance market. The so-called “individual mandate” was repealed as part of tax reform legislation 
adopted in December 2017. Legal challenges to the Affordable Care Act continue to arise and there may be future efforts 
to modify, repeal, or otherwise invalidate all, or certain provisions of the Affordable Care Act. The Biden administration 
is expected to continue to take measures to further facilitate the implementation of the Affordable Care Act. We cannot 
assure that the Affordable Care Act, as currently enacted or as amended in the future, will not adversely affect our business 
and financial results and we cannot predict how future federal or state legislative or administrative changes relating to 
healthcare reform will affect our business. 

Additionally, the Budget Control Act of 2011, among other things, created measures for spending reductions by Congress. 
Failure  of  the  Joint  Select  Committee  on  Deficit  Reduction  to  reach  required  deficit  reduction  goals  triggered  the 
legislation’s  automatic  reduction  to  several  government  programs.  This  legislation  resulted  in  aggregate  reductions  to 
Medicare payments to providers of up to 2% per fiscal year, which went into effect in April 2013 and will remain in effect 
through 2031. However, pursuant to the CARES Act and subsequent legislation, these Medicare sequester reductions were 
suspended through the end of March 2022 and from April 2022 through June 2022, a 1% cut was in effect, with the full 
2% cut remaining thereafter. The American Taxpayer Relief Act of 2012, among other things, reduced Medicare payments 
to several providers and increased the statute of limitations period for the government to recover overpayments to providers 
from three to five years. These new laws may result in additional reductions in Medicare and other healthcare funding and 
otherwise affect the prices we may obtain for any of our product candidates for which we may obtain regulatory approval 
or the frequency with which any such product candidates is prescribed or used. 

In the EU, reference pricing systems and other measures may lead to cost containment and reduced prices with respect to 
Translarna for the treatment of nmDMD, Upstaza for the treatment of AADC deficiency and other product candidates that 
might receive marketing authorization in the future. Our inability to promptly obtain coverage and profitable payment 
rates from both government-funded and private payors for our product or any of our product candidates that may receive 
marketing authorization, or a reduction in coverage for payment rates for our product or any such product candidates, 
could have a material adverse effect on our business, results of operations and financial condition. In addition, in the EU, 
an authorized trader, such as a wholesaler, can purchase a medicine in one EU member state and obtain a license to import 
the product into another EU member state. This process is called “parallel distribution”. As a result, a purchaser in one EU 
member state may seek to import Translarna from another EU member state where Translarna is sold at a lower price. 
This could have a negative impact on our business, financial condition, results of operations and growth. 

Similarly, sales of Emflaza in the United States could also be reduced if deflazacort is imported into the United States 
from lower-priced markets, whether legally or illegally. For example, in the United States, prices for pharmaceuticals are 
generally higher than in the bordering nations of Mexico and Canada. In October 2020, the Department of Health and 

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Human Services, or HHS, and the FDA published a final rule allowing states and other entities to develop a Section 804 
Importation Program, or SIP, to import certain prescription drugs from Canada into the United States. Certain states have 
passed laws allowing for the importation of drugs from Canada with the intent of developing SIPs for review and approval 
by the FDA.  Florida recently received approval for its SIP from the FDA. Further, on November 20, 2020, HHS finalized 
a regulation removing safe harbor protection for price reductions from pharmaceutical manufacturers to plan sponsors 
under Part D, either directly or through pharmacy benefit managers, unless the price reduction is required by law.. The 
rule also creates a safe harbor for price reductions reflected at the point-of-sale, as well as a new safe harbor for certain 
fixed fee arrangements between pharmacy benefit managers and manufacturers.  The effective date of the new safe harbors 
and the revision to the discount safe harbor was delayed by court order until January 1, 2023. Recent legislation further 
delayed implementation of the new safe harbors and the revision to the discount safe harbor until January 1, 2032. 

Risks Related to Our Financial Position and Need for Additional Capital 

We  have  incurred  significant  losses  since  our  inception  and  based  on  our  current  commercial,  research  and 
development plans, we expect to continue to incur significant operating expenses for the foreseeable future. We may 
never generate profits from operations or maintain profitability. 

Since inception, we have incurred significant operating losses. As of December 31, 2023, we had an accumulated deficit 
of $3,283.6 million. We have financed our operations to date primarily through the private offerings of convertible senior 
notes, public and “at the market offerings” of common stock, proceeds from royalty purchase agreements, net proceeds 
from our borrowings under our credit agreement with Blackstone, private placements of our convertible preferred stock 
and common stock, collaborations, bank and institutional lender debt, other convertible debt, grant funding and clinical 
trial support from governmental and philanthropic organizations and patient advocacy groups in the disease area addressed 
by our product candidates. We have relied on revenue generated from net sales of Translarna for the treatment of nmDMD 
in territories outside of the United States since 2014, Emflaza for the treatment of DMD in the United States since 2017, 
and Upstaza for the treatment of AADC deficiency in the EEA since May 2022. We have also relied on revenue associated 
with milestone and royalty payments from Roche pursuant to the SMA License Agreement under our SMA program and 
revenue generated from net sales of Tegsedi and Waylivra in Latin America and the Caribbean. Based on our current 
commercial,  research  and  development  plans,  we  expect  to  continue  to  incur  significant  operating  expenses  for  the 
foreseeable future, which we anticipate will be partially offset by revenues generated from the sale of our products and 
our collaboration and royalty revenues. We expect to continue to generate operating losses through 2024 and, while we 
anticipate that operating losses generated in future periods should decline versus prior periods, we may never generate 
profits from operations or maintain profitability. The net losses we incur may fluctuate significantly from period to period. 

From  time  to  time,  we  have  engaged  in  strategic  transactions  to  expand  and  diversify  our  product  pipeline,  including 
through the acquisition of assets or businesses. In connection with these acquisitions, we have entered into agreements 
through which we have ongoing obligations, including obligations to make contingent payments upon the achievement of 
certain development, regulatory and net sales milestones or upon a percentage of net sales of certain products. See “Item 
1.  Business-Our  Ongoing  Acquisition-Related  Obligations”  for  further  information  regarding  our  acquisitions  and  our 
ongoing obligations. We may engage in additional strategic transactions to expand and diversify our product pipeline, 
including through the acquisition of assets, businesses, or rights to products, product candidates or technologies or through 
strategic alliances or collaborations and we may incur expenses, including with respect to transaction costs, subsequent 
development costs or any upfront, milestone or other payments or other financial obligations associated with any such 
transaction. 

Our current ability to generate revenue from sales of Translarna is dependent upon our ability to maintain our marketing 
authorizations in the EEA for Translarna for the treatment of nmDMD in ambulatory patients aged two years and older, in 
Russia for the treatment of nmDMD in patients aged two years and older and in Brazil for the treatment of nmDMD in 
ambulatory patients two years and older and for continued treatment of patients that become non-ambulatory, as well as 
in various other countries. The marketing authorization in the EEA is subject to annual review and renewal by the EC 
following reassessment by the EMA of the benefit-risk balance of the authorization. For example, in February 2023, we 
submitted an annual marketing authorization request to the EMA. In September 2023, the CHMP gave a negative opinion 
on  the  conversion  of  the  conditional  marketing  authorization  to  the  full  marketing  authorization  of  Translarna  for  the 
treatment  of  nmDMD  and  a  negative  opinion  on  the  renewal  of  the  existing  conditional  marketing  authorization  of 

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Translarna.  On  January  25,  2024,  the  CHMP  issued  a  negative  opinion  for  the  renewal  of  the  conditional  marketing 
authorization following a re-examination procedure. In accordance with EMA regulations, the EC has 67 days to adopt 
the opinion from the date of its issuance. If the EC adopts the negative opinion, Translarna would no longer have marketing 
authorization in the EEA. For more information regarding the risks associated with the a potential EC adoption of the 
CHMP’s negative opinion on Translarna’s marketing authorization, see Item 1A. Risk Factors, “We may be unable to 
continue to commercialize Translarna for nonsense mutation Duchenne muscular dystrophy in the European Economic 
Area if the European Commission adopts the negative opinion issued by the Committee for Medicinal Products for Human 
Use of the European Medicines Agency for the renewal of the existing conditional authorization for Translarna.” We also 
expect that our efforts to advance Translarna for the treatment of nmDMD in the United States will be time-consuming 
and may be expensive. 

We anticipate that we will continue to incur significant expenses in connection with our commercialization efforts in the 
United States, the EEA, Latin America and other territories, including expenses related to our commercial infrastructure 
and corresponding sales and marketing, legal and regulatory, and distribution and manufacturing undertakings as well as 
administrative  and  employee-based  expenses.  In  addition  to  the  foregoing,  we  expect  to  continue  to  incur  significant 
costs in connection with ongoing, planned and potential future clinical trials and studies for sepiapterin and our splicing 
and  ferroptosis  and  inflammation  programs  as  well  as  studies  in  our  products  for  maintaining  authorizations,  label 
extensions and additional indications. We continue to seek marketing authorization for Translarna for the treatment of 
nmDMD  in  territories  that  we  do  not  currently  have  marketing  authorization  in  and  we  are  exploring  other  potential 
mechanisms in which we may provide Translarna to nmDMD patients in the EEA if the EC adopts the CHMP’s negative 
opinion for Translarna. We anticipate submitting a BLA to the FDA for Upstaza for the treatment of AADC deficiency in 
the United States in March 2024. We also expect to submit an MAA to the EMA for sepiapterin for the treatment of PKU 
in March 2024 and we expect to submit an NDA to the FDA for sepiapterin for the treatment of PKU no later than the 
third  quarter  of  2024.  These  efforts  may  significantly  impact  the  timing  and  extent  of  our  commercialization  and 
manufacturing expenses. 

In  addition,  the  clinical  and  regulatory  developments  noted  in  this  risk  factor  may  exacerbate  the  risks  related  to  our 
commercialization efforts set forth under the heading “Risks Related to the Development and Commercialization of our 
Products and our Product Candidates,” which could increase the costs associated with our commercial activities or have a 
negative impact on our revenues. 

We may seek to continue to expand and diversify our product pipeline through opportunistically in-licensing or acquiring 
the rights to products, product candidates or technologies and we may incur expenses, including with respect to transaction 
costs, subsequent development costs or any upfront, milestone or other payments or other financial obligations associated 
with any such transaction, which would increase our future capital requirements. 

With respect to our outstanding 1.50% convertible senior notes due September 15, 2026, or the 2026 Convertible Notes, 
cash  interest  payments  are payable on  a  semi-annual  basis  in  arrears, which will  require  total  funding  of  $4.3  million 
annually.  

We expect to pay the former equityholders of Agilis $20.0 million in development milestone payments upon the acceptance 
for filing by the FDA of a BLA for Upstaza for the treatment of AADC deficiency and $4.5 million in regulatory milestones 
for the approval of the BLA from the FDA pursuant to the Agilis Merger Agreement. We anticipate submitting a BLA to 
the FDA for Upstaza for the treatment of AADC deficiency in the United States in March 2024. We also expect to make 
payments to the former Censa securityholders of $65.0 million in the aggregate in cash upon the potential achievement in 
2024 of regulatory milestones relating to sepiapterin pursuant to the Censa Merger Agreement.  

In addition, our expenses will increase if and as we: 

• 

• 

seek  to  satisfy  contractual  and  regulatory  obligations  that  we  assumed  through  our  acquisitions  and 
collaborations; 
execute  our  commercialization  strategy  for  our  products,  including  initial  commercialization  launches  of  our 
products, label extensions or entering new markets; 

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• 

• 

• 

are  required  to  complete  any  additional  clinical  trials,  non-clinical  studies  or  Chemistry,  Manufacturing  and 
Controls, or CMC, assessments or analyses in order to advance Translarna for the treatment of nmDMD in the 
United States or elsewhere; 
are required to take other steps to maintain our current marketing authorization in the EEA, Brazil and Russia for 
Translarna  for  the  treatment  of  nmDMD  or  to  obtain  further  marketing  authorizations  for  Translarna  for  the 
treatment of nmDMD or other indications; 
initiate or continue the research and development of sepiapterin and our splicing and ferroptosis and inflammation 
programs  as  well  as  studies  in  our  products  for  maintaining  authorizations,  label  extensions  and  additional 
indications; 
continue to utilize the Hopewell Facility to manufacture program materials for third parties; 
seek to discover and develop additional product candidates; 
seek to expand and diversify our product pipeline through strategic transactions; 

• 
• 
• 
•  maintain, expand and protect our intellectual property portfolio; and 
• 

add operational, financial and management information systems and personnel, including personnel to support 
our product development and commercialization efforts. 

Our  expenses may  also  increase  as  a result  of  economic conditions,  such  as potentially high  inflation  rates  within the 
jurisdictions that we operate, sustained high interest rates, or unfavorable fluctuations in foreign currency exchange rates. 

Our ability to generate profits from operations and become and remain profitable depends on our ability to successfully 
develop and commercialize drugs that generate significant revenue. This will require us to be successful in a range of 
challenging activities, including: 

• 
• 

commercializing and marketing all of our products and products candidates; 
negotiating, securing, and maintaining adequate pricing, coverage and reimbursement terms, on a timely basis, 
with third-party payors for our products and product candidates; 

•  maintaining our marketing authorization for Translarna for the treatment of nmDMD in the EEA following the 

• 

• 

• 
• 

CHMP’s negative opinion on the conditional marketing authorization;  
advancing Translarna for the treatment of nmDMD in the United States, including, whether we will be required 
to perform additional clinical trials, non-clinical studies or CMC assessments or analyses at significant cost which, 
if successful, may enable FDA review of an NDA re-submission by us and, ultimately, may support approval of 
Translarna for nmDMD in the United States; 
successfully completing any post-marketing requirements imposed by regulatory agencies with respect to our 
products; 
expanding the territories in which we are approved to market our products; 
successfully  advancing  our  other  programs  and  collaborations,  including  sepiapterin  and  our  splicing  and 
ferroptosis and inflammation programs as well as studies in our products for additional indications; 

•  maintaining  a global  commercial  infrastructure,  including the  sales,  marketing  and  distribution  capabilities  to 

effectively market and sell our products and product candidates throughout the world; 
implementing marketing and distribution relationships with third parties in territories where we do not pursue 
direct commercialization; 
identifying patients eligible for treatment with our products and product candidates; 
successfully developing or commercializing any product candidate or product that we may in-license or acquire; 
protecting our rights to our intellectual property portfolio related to Translarna and other products and product 
candidates; and 
contracting for the manufacture and distribution of commercial quantities of our products and product candidates. 

• 

• 
• 
• 

• 

We may never succeed in these activities and, even if we do, may never generate revenues that are significant enough to 
generate profits from operations. Even if we do generate profits from operations, we may not be able to sustain or increase 
profitability on a quarterly or annual basis. Our failure to generate profits from operations and remain profitable would 
decrease the value of our company and could impair our ability to raise capital, expand our business, maintain our research 
and development efforts, diversify our product offerings or continue our operations. A decline in the value of our company 
could also cause our stockholders to lose all or part of their investment in our company. 

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We may need additional funding. If we are unable to raise capital when needed, we could be forced to delay, reduce or 
eliminate our product development programs or commercialization efforts. 

As noted in the prior risk factor, we expect to incur significant expenses related to our clinical, regulatory, commercial, 
legal, research and development, and other business efforts. We believe that our cash flows from product sales, together 
with existing cash and cash equivalents, and marketable securities will be sufficient to fund our operating expenses and 
capital expenditure requirements for at least the next twelve months. We have based this estimate on assumptions that may 
prove to be wrong, and we could use our capital resources sooner than we currently expect. 

Our future capital requirements will depend on many factors, including: 

• 

• 

• 

• 

• 

• 

• 

• 

• 

• 

• 

• 

• 

• 
• 
• 

• 
• 

• 

• 

our  ability  to  maintain  our  marketing  authorization  for  Translarna  for  the  treatment  of  nmDMD  in  the  EEA 
following the CHMP’s negative opinion on the conditional marketing authorization following a re-examination 
procedure or identify other potential mechanisms in which we may provide Translarna to nmDMD patients in the 
EEA; 
our ability to maintain the marketing authorization for Translarna and our other products in territories outside of 
the EEA; 
our  ability  to  commercialize  and  market  our  products  and  product  candidates  that  may  receive  marketing 
authorization; 
our ability to negotiate, secure and maintain adequate pricing, coverage and reimbursement terms, on a timely 
basis, with third-party payors for our products and products candidates; 
the amount of generic drug competition that we face for Emflaza following its loss of orphan drug exclusivity 
related to the treatment of DMD in patients five years and older; 
our ability to obtain marketing authorization for sepiapterin for the treatment of PKU in the United States and 
EEA; 
our ability to obtain marketing authorization for Upstaza for the treatment of AADC deficiency in the United 
States; 
the costs, timing and outcome of our efforts to advance Translarna for the treatment of nmDMD in the United 
States, including, whether we will be required to perform additional clinical trials, non-clinical studies or CMC 
assessments or analyses at significant cost which, if successful, may enable FDA review of an NDA re-submission 
by us and, ultimately, may support approval of Translarna for nmDMD in the United States; 
unexpected  decreases  in  revenue  or  increase  in  expenses  resulting  from  potential  widespread  outbreaks  of 
contagious disease, such as COVID-19; 
our ability to successfully complete all post-marketing requirements imposed by regulatory agencies with respect 
to our products; 
the progress and results of activities for sepiapterin and our splicing and ferroptosis and inflammation programs 
as well as studies in our products for maintaining authorizations, label extensions and additional indications; 
the  scope,  costs  and  timing  of  our  commercialization  activities,  including  product  sales,  marketing,  legal, 
regulatory, distribution and manufacturing, for any of our products and for any of our other product candidates 
that may receive marketing authorization or any additional territories in which we receive authorization to market 
Translarna; 
the  costs,  timing  and  outcome  of  regulatory  review  of  sepiapterin  and  our  splicing  and  ferroptosis  and 
inflammation programs and Translarna and Upstaza in other territories; 
our ability to satisfy our obligations under the indenture governing the 2026 Convertible Notes; 
the timing and scope of any potential future growth in our employee base; 
the scope, progress, results and costs of preclinical development, laboratory testing and clinical trials for our other 
product candidates, including those in our splicing and ferroptosis and inflammation programs; 
revenue received from commercial sales of our products or any of our product candidates; 
our ability to obtain additional and maintain existing reimbursed named patient and cohort EAP programs for 
Translarna for the treatment of nmDMD on adequate terms, or at all; 
the ability and willingness of patients and healthcare professionals to access Translarna through alternative means 
if pricing and reimbursement negotiations in the applicable territory do not have a positive outcome; 
our ability to continue to utilize the Hopewell Facility to manufacture program materials for third parties; 

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• 

• 

the  costs  of  preparing,  filing  and  prosecuting  patent  applications,  maintaining,  and  protecting  our  intellectual 
property rights and defending against intellectual property-related claims; 
the  extent  to  which  we  acquire  or  invest  in  other  businesses,  products,  product  candidates,  and  technologies, 
including the success of any acquisition, in-licensing or other strategic transaction we may pursue, and the costs 
of  subsequent  development  requirements  and  commercialization  efforts,  including  with  respect  to  our 
acquisitions of Emflaza, Agilis, our ferroptosis and inflammation platform and Censa and our licensing of Tegsedi 
and Waylivra; and 
our  ability  to  establish  and  maintain  collaborations,  including  our  collaborations  with  Roche  and  the  SMA 
Foundation, and our ability to obtain research funding and achieve milestones under these agreements. 

Conducting preclinical testing and clinical trials is a time-consuming, expensive and uncertain process that takes years to 
complete, and we may never generate the necessary data or results required to obtain regulatory approval and achieve 
product sales for certain product candidates or indications. In addition, our products and product candidates, if approved, 
may not achieve sustained commercial success. Likewise, if we fail to maintain our marketing authorization or lose non-
patent  market  exclusivity  for  our  products  and  product  candidates,  we  will  be  unable  to  commercialize  and  generate 
revenue from the sales of those products. 

Accordingly, we may need to continue to rely on additional financing in connection with our continuing operations and to 
achieve our business objectives. In addition, we may seek additional capital due to favorable market conditions or based 
on  strategic  considerations,  even  if we  believe  that  we  have  sufficient funds  for  our  current  or future  operating  plans. 
Additional financing may not be available to us on acceptable terms or at all. If we are unable to raise capital when needed 
or on attractive terms, we could be forced to delay, reduce or eliminate our research and development programs or our 
commercialization efforts. 

We  may  engage  in  strategic  transactions  to  acquire  assets,  businesses,  or  rights  to  products,  product  candidates  or 
technologies  or  form  collaborations  or  make  investments  in  other  companies  or  technologies  that  could  harm  our 
operating results, dilute our stockholders’ ownership, increase our debt, or cause us to incur significant expense. 

As part of our business strategy, we may engage in additional strategic transactions to expand and diversify our product 
pipeline, including through the acquisition of assets, businesses, or rights to products, product candidates or technologies 
or through strategic alliances or collaborations, similar to our acquisitions of Emflaza, Agilis, Censa and BioElectron’s 
assets  and  the  Tegsedi-Waylivra  Agreement.  We  may  not  identify  suitable  strategic  transactions,  or  complete  such 
transactions  in  a  timely  manner,  on  a  cost-effective  basis,  or  at  all.  Moreover,  we  may  devote  resources  to  potential 
opportunities that are never completed, or we may incorrectly judge the value or worth of such opportunities. Even if we 
successfully execute a strategic transaction, we may not be able to realize the anticipated benefits of such transaction, may 
incur  additional  debt  or  assume  unknown  or  contingent  liabilities  in  connection  therewith,  and  may  experience  losses 
related to our investments in such transactions. Integration of an acquired company or assets into our existing business 
may  not  be  successful  and  may  disrupt  ongoing  operations,  require  the  hiring  of  additional  personnel  and  the 
implementation of additional internal systems and infrastructure, and require management resources that would otherwise 
focus on developing our existing business. Even if we are able to achieve the long-term benefits of a strategic transaction, 
our expenses and short-term costs may increase materially and adversely affect our liquidity. Any of the foregoing could 
have a detrimental effect on our business, results of operations and financial condition. 

In addition, future strategic transactions may entail numerous operational, financial and legal risks, including: 

• 
• 

• 
• 
• 

incurrence of substantial debt, dilutive issuances of securities or depletion of cash to pay for acquisitions; 
exposure  to  known  and  unknown  liabilities,  including  possible  intellectual  property  infringement  claims, 
violations of laws, tax liabilities and commercial disputes; 
higher than expected acquisition and integration costs; 
difficulty in integrating operations and personnel of any acquired business; 
increased amortization expenses or, in the event that we write-down the value of acquired assets, impairment 
losses; 

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• 

• 

• 

• 

• 

impairment  of  relationships  with  key  suppliers  or  customers  of  any  acquired  business  due  to  changes  in 
management and ownership; 
inability to retain personnel, customers, distributors, vendors and other business partners integral to an in-licensed 
or acquired product, product candidate or technology; 
potential failure of the due diligence processes to identify significant problems, liabilities or other shortcomings 
or challenges; 
entry  into  indications  or  markets  in  which  we  have  no  or  limited  direct  prior  development  or  commercial 
experience and where competitors in such markets have stronger market positions; and 
other challenges associated with managing an increasingly diversified business. 

If we are unable to successfully manage any strategic transaction in which we may engage, our ability to develop new 
products and continue to expand and diversify our product pipeline may be limited. 

Raising additional capital may cause dilution to our stockholders, restrict our operations or require us to relinquish 
rights to our technologies or product candidates. 

Until such time, if ever, as we can generate enough product revenues to cover our expenses, we expect to supplement our 
cash needs through a combination of equity offerings, debt financings, royalty sales, collaborations, strategic alliances, 
grants and clinical trial support from governmental and philanthropic organizations and patient advocacy groups in the 
disease areas addressed by our product candidates; marketing, distribution, licensing or other arrangements. 

To the extent that we raise additional capital through the sale of equity or convertible debt securities, our stockholders’ 
ownership  interest  will  be  diluted,  and  the  terms  of  these  securities  may  include  liquidation  or  other  preferences  that 
adversely affect the rights of our common stockholders. Any debt financing, if available, may involve agreements that 
include covenants limiting or restricting our ability to take specific actions, such as incurring additional debt, entering into 
agreements involving licenses to our intellectual property, making capital expenditures or declaring dividends. 

If we raise additional funds through collaborations, strategic alliances or marketing, distribution or licensing arrangements 
with third parties, we may have to relinquish valuable rights to our technologies, future revenue streams, research programs 
or product candidates; or grant licenses on terms that may not be favorable to us. If we are unable to raise additional funds 
through  equity  or  debt  financings  when  needed,  we  may  be  required  to  delay,  limit,  reduce  or  terminate  our  product 
development or future commercialization efforts or grant rights to develop and market product candidates that we would 
otherwise prefer to develop and market ourselves. 

Our ability to use our net operating losses and certain other tax attributes to offset potential taxable income and related 
income taxes that would otherwise be due is subject to limitation under the provisions of Sections 382 and 383 of the 
Internal  Revenue  Code  as  a  result  of  ownership  changes  of  the  Company  and  could  be  subject  to  further  annual 
limitations under such provisions. In addition, we may not generate sufficient future taxable income to use our net 
operating losses and certain other tax attributes. 

If a corporation undergoes an “ownership change” within the meaning of Sections 382 and 383 of the Internal Revenue 
Code of 1986, as amended, or Sections 382 and 383, the corporation’s ability to utilize any net operating losses, or NOLs, 
and certain tax credits and other tax attributes generated before such an ownership change, is limited. We believe that we 
have  in  the  past  experienced  ownership  changes  within  the  meaning  of  Sections  382  and  383  that  have  resulted  in 
limitations under Sections 382 and 383 (and similar state provisions) on the use of our NOLs and other tax attributes. 

Sections 382 and 383 are extremely complex provisions with respect to which there are many uncertainties, and we have 
not requested a ruling from the United States Internal Revenue Service, or IRS, to confirm our analysis of the ownership 
change limitations related to the NOLs and other tax attributes generated by us. Therefore, we have not established whether 
the IRS would agree with our analysis regarding the application of Sections 382 and 383. We continue to fully evaluate 
the impact of a limitation on the use of our NOLs and other tax attributes under Sections 382 and 383. 

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Moreover, our ability to use these NOLs to offset potential future taxable income and related income taxes that would 
otherwise be due is dependent upon our generation of future taxable income. We generated taxable income that is subject 
to income tax in 2023, but continue to maintain NOLs from previous years that will be carried forward. 

Changes in our effective income tax rates and future changes to U.S. and non-U.S. tax laws could adversely affect our 
results of operations. 

We are subject to income taxes in the Unites States and various ex-U.S. jurisdictions. Taxes will be incurred as income is 
earned in these different jurisdictions. Various factors may have favorable or unfavorable effects on our effective income 
tax rate. These factors include, but are not limited to, interpretations of existing tax laws, changes in tax laws and rates, 
the accounting for stock options and other share-based compensation, changes in accounting standards, future levels of 
research and development spending, changes in the mix and level of pre-tax earnings by taxing jurisdiction, the outcome 
of  examinations  by  the  IRS  and  other  jurisdictions,  the  accuracy  of  our  estimates  for  unrecognized  tax  benefits,  the 
realization  of  deferred  tax  assets,  or  by  changes  to  our  ownership  or  capital  structure.  The  impact  on  our  income  tax 
provision resulting from the above-mentioned factors and others may be significant and could adversely affect our results 
of operations. 

Changes in tax laws or regulations, including further regulatory developments arising from U.S. tax reform legislation as 
well as multi-jurisdictional changes enacted in response to the action items provided by the Organization for Economic 
Cooperation and Development (OECD), may increase tax uncertainty and the amount of tax we pay. 

On December 22, 2017, the United States government enacted the 2017 Tax Act, which significantly reformed the U.S. 
Internal Revenue Code of 1986, as amended, or the Code. The Tax Act, among other things, contained significant changes 
to corporate taxation. As part of Congress’s response to the COVID-19 pandemic, economic relief legislation was enacted 
in 2020 and 2021. Such legislation contains numerous tax provisions. In addition, the IRA was signed into law in August 
2022.  The IRA introduced new tax provisions, including a 1% excise tax imposed on certain stock repurchases by publicly 
traded corporations. The 1% excise tax generally applies to any acquisition by the publicly traded corporation (or certain 
of its affiliates) of stock of the publicly traded corporation in exchange for money or other property (other than stock of 
the corporation itself), subject to a de minimis exception. Thus, the excise tax could apply to certain transactions that are 
not traditional stock repurchases. 

Regulatory guidance under the 2017 Tax Act, the IRA, and such additional legislation is and continues to be forthcoming, 
and such guidance could ultimately increase or lessen the impact of these laws on our business and financial condition. In 
addition,  it  is  uncertain  if  and  to  what  extent  various  states  will  conform  the  2017  Tax  Act,  IRA,  and  additional  tax 
legislation. 

Although we monitor actual and potential changes to the tax laws in the United States and other jurisdictions, it is very 
difficult to assess to what extent these changes may impact the way in which we conduct our business or our effective tax 
rate due to the unpredictability and interdependency of these changes. Changes in tax laws and related regulations and 
practices could have a material adverse effect on our business operations, cash flows, effective tax rate, financial position 
and results of operations. 

Risks Related to Regulatory Approval of our Products and our Product Candidates 

We may not be able to obtain orphan drug exclusivity for our products or product candidates in either the United States 
or the EU.  

Regulatory authorities in some jurisdictions, including the EU and the United States, may designate drugs for relatively 
small patient populations as orphan drugs. We have obtained orphan drug designations from the EMA and from the FDA 
for  Translarna  for  the  treatment  of  nmDMD,  Upstaza  for  the  treatment  of  AADC,  Evrysdi  for  the  treatment  of  SMA, 
sepiapterin for the treatment of patients with hyperphenylalaninemia, including hyperphenylalaninemia caused by PKU, 
vatiquinone for the treatment of Friedreich ataxia and utreloxastat for the treatment of ALS. The FDA has also granted an 
orphan drug designation to Emflaza for the treatment of DMD. We may also seek orphan drug designation and exclusivity 
for other product candidates, if we believe that the product candidate may qualify. We, however, may not be able to obtain 

85 

orphan drug designation in the future for any of our other product candidates. Obtaining orphan drug exclusivity, both in 
the EU and in the United States, may be important to a product candidate’s future success. 

In the EU, if an orphan designated product subsequently receives the first marketing authorization for the indication for 
which it has received such a designation, the product is entitled to 10 years of market exclusivity, which, subject to certain 
exceptions, precludes the EMA from accepting another marketing application for a similar medicinal product, even if the 
new  marketing  application  relies  on  independently  generated  data  submitted  as  part  of  a  full  marketing  authorization 
application dossier. The EU exclusivity period can be reduced to six years, at the end of the fifth year, if a drug no longer 
meets the criteria for orphan drug designation, including if the drug is sufficiently profitable so that market exclusivity is 
no longer justified. In addition, a competing similar medicinal product may in limited circumstances be authorized prior 
to the expiration of the market exclusivity period, including if it is shown to be safer, more effective or otherwise clinically 
superior to the orphan product. In this context, a “similar medicinal product” is a medicinal product containing a similar 
active substance or substances as contained in a currently authorized orphan medicinal product, and which is intended for 
the same therapeutic indication. Product candidates can also lose orphan designation, and the related benefits, prior to 
obtaining a marketing authorization if it is demonstrated that the orphan designation criteria are no longer met. The EC 
has conducted a review of the Orphan Drug Regulation together with the Paediatric Regulation.  The outcome of this 
review is intended to guide future legislative changes and shape the EU’s pharmaceutical strategy. 

In the United States, under FDA’s current policy, if a product with an orphan drug designation subsequently receives the 
first marketing authorization for the indication for which it has such designation, the product is entitled to seven years of 
market exclusivity which precludes the FDA from approving another marketing application for the “same drug” for the 
same orphan designated approved indication for that time period. When determining whether a drug is the “same drug” as 
an orphan designated product, the FDA looks to the products’ molecular features and use. The specific sameness criteria, 
however, varies based on whether the product is composed of small or large molecules and if the product is a gene therapy. 
Moreover, for gene therapies, the sameness criteria is currently evolving. For example, the FDA issued a final guidance 
document specific to sameness determinations.  Depending on product characteristics, sameness may be determined by 
the FDA on a case by case basis, making it difficult to predict when FDA may approve a product and whether periods of 
exclusivity will effectively block competitors seeking to market products that are the same or similar to ours for the same 
intended use. Moreover, following the Catalyst Pharms., Inc. v. Becerra and FDA’s subsequent statement that it intends 
to continue to apply its regulations tying the scope of orphan-drug exclusivity to the uses or indications for which a drug 
is  approved,  as  further  described  in  this  filing,  the  exact  scope  of  orphan  drug  exclusivity  may  be  an  evolving  space.  
Accordingly, whether any of our products or product candidates will be deemed to be the same as another product or 
product candidate is uncertain and the scope of any potential or received orphan drug exclusivity period may be subject to 
revision. 

Obtaining orphan drug designation does not guarantee that we will be able to receive ultimate marketing approval. Orphan 
drug designation neither shortens the development time or regulatory review time of a product candidate nor gives the 
product candidate any advantage in the regulatory review or approval process. Moreover, the FDA may grant orphan drug 
designation to multiple products that are considered to be the “same drug” for the same indication. If a competitor obtains 
an orphan drug designation for and approval of a product with orphan drug exclusivity for the same indication as one of 
our product candidates before we do and if the competitor’s product is the same drug, in the United States or a similar 
medicinal product, in the EU, as ours, we could be excluded from the market for a period of time. 

We also may not be able to maintain any orphan drug designations or exclusivities. For instance, orphan drug designations 
may be revoked if the FDA finds that the request for designation contained an untrue statement of material fact or omitted 
material information, or if the FDA finds that the product candidate was not eligible for designation at the time of the 
submission of the request. Even if we are able to receive and maintain orphan drug designations, we may ultimately not 
receive  any period of regulatory  exclusivity  if  our product  candidates  are  approved.  For  instance, we may not  receive 
orphan product regulatory exclusivity if the indication for which we receive FDA approval is broader than the orphan drug 
designation. Orphan exclusivity may also be lost for the same reasons that designation may be lost. Orphan exclusivity 
may further be lost if we are unable to assure a sufficient quantity of the product to meet the needs of patients with the rare 
disease or condition. 

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Further,  even  if  we  do  receive  orphan  drug  exclusivity  upon  approval  of  a  product  candidate,  this  exclusivity  is  not 
absolute. For example, if a competitive product that is the same drug or a similar medicinal product as one of our approved 
products with orphan exclusivity is shown to be “clinically superior” to our product candidate as determined by the FDA 
or  EMA,  respectively,  any  orphan  drug  exclusivity  we  have  obtained  will  not  block  the  approval  of  such  competitive 
product. Orphan exclusivity also would not block FDA from approving a drug that is the same as our product candidates 
for different indications or products that are different from ours for the same indication. Moreover, marketing exclusivity 
would not prevent a provider from prescribing or using another drug off-label and third-party payors may reimburse for 
products off-label even if not indicated for the orphan condition. 

For  certain  of  our  products,  periods  of  orphan  drug  exclusivity  are  important.    For  instance,  for  Emflaza,  we  have 
previously relied on non-patent market exclusivity periods under the Orphan Drug Act to commercialize Emflaza in the 
United States. Emflaza’s seven-year period of orphan drug exclusivity related to the treatment of DMD in patients five 
years and older expired in February 2024. We expect the expiration of this orphan drug exclusivity to have significant 
negative impact on Emflaza net product revenue. Emflaza’s orphan drug exclusivity related to the treatment of DMD in 
patients  two years of  age  to less  than  five expires  in  June  2026.  With  the  expiration of  the orphan exclusivity  for  the 
Emflaza indication of the treatment of DMD in patients five years and older, we expect to face competition from generic 
versions of Emflaza for this indication and will likely be priced less than Emflaza.  Healthcare providers may also substitute 
the generic version(s) of Emflaza for patients two years of age to five, despite the fact that the generic version(s) will not 
be approved for such indication until after June 2026. 

The respective orphan designation and exclusivity frameworks in the United States and in the EU are subject to change, 
and any such changes may affect our ability to obtain, or the impact of obtaining, EU or United States orphan designations 
in the future. 

All pharmaceutical products for which marketing authorization has been granted are subject to extensive and rigorous 
governmental regulation and could be subject to restrictions or withdrawal from the market. We may also be subject to 
penalties  if  we  fail  to  comply  with  regulatory  requirements  or  if  we  experience  unanticipated  problems  with  our 
products, when and if any of them are approved, as well as our product candidates during development. 

We,  our  products  and  product  candidates,  our  operations,  our  facilities,  our  suppliers  and  our  contract  manufacturers, 
distributors, contract research organizations, clinical trial sites and contract testing laboratories are subject to extensive 
regulation by governmental authorities in the EEA, the United States, and other territories, with regulations differing from 
country to country. 

We are not permitted to market our product candidates in the EEA, the United States, or other territories until we have 
received  requisite  regulatory  approvals.  In  order  to  receive  and  maintain  such  approvals,  and  to  be  compliant  with 
regulatory authority requirements, we and our third-party service providers must comply on a continuous basis with a 
broad array of regulations and requirements. Depending on the stage of product development and whether a product is 
approved  these  requirements  may  relate  to  establishment  registration  and  product  listing,  the  payment  of  user  fees, 
manufacturing  processes,  risk  management  measures,  quality  and  pharmacovigilance  systems  (including  reporting  of 
manufacturing deviations and adverse events), pre- and post-approval clinical and pre-clinical data, labeling, packaging, 
advertising, marketing and promotional activities (including product sampling), record keeping, distribution, storage, and 
import and export of pharmaceutical products. Any regulatory approval of any of our products or product candidates, once 
obtained, may be withdrawn. For example, our marketing authorization for Translarna for the treatment of nmDMD in the 
EEA is subject to annual review and renewal by the EC following reassessment by the EMA of the benefit-risk balance of 
the authorization, as well as the specific obligation to conduct and report the results of Study 041. On January 25, 2024, 
the CHMP issued a negative opinion for the renewal of the conditional marketing authorization. In accordance with EMA 
regulations, the EC has 67 days to adopt the opinion from the date of its issuance. If the EC adopts the negative opinion, 
Translarna would no longer have marketing authorization in the EEA.  

After approving a drug, the FDA may withdraw product approval if compliance with regulatory standards is not maintained 
or if safety problems occur after the product reaches the market. Requirements for additional clinical trials and studies to 
confirm safety and effectiveness may be imposed as a condition of marketing approval. In addition, the FDA requires 
surveillance programs to monitor approved products that have been commercialized, as well as REMS, and the agency has 

87 

the power to require changes in labeling or to prevent further marketing and distribution of a product. For example, we 
were obligated to perform certain FDA post-marketing requirements in connection with our marketing authorization for 
Emflaza in the United States, including pre-clinical and clinical safety studies. Additionally, our marketing authorizations 
for Translarna, Tegsedi and Waylivra in Brazil and our marketing authorization for Translarna in Russia are subject to 
renewal  every  five years.  There  is  no  guarantee  that  we  will  be  able  to  complete  our  post-marketing  obligations  in 
accordance with the established timetables. Failure to complete the required studies in accordance with the established 
timetables or failure to provide the requisite periodic reports on the status of post-marketing studies in the absence of good 
cause could result in an enforcement action. Accordingly, we and others with whom we work must continue to expend 
time, money, and effort in all areas of regulatory compliance, including manufacturing and distribution. 

Regulatory authorities conduct ongoing reviews and inspections or remote regulatory assessments of marketed products, 
as  well  as  sponsors  and  manufacturing  facilities.    Regulatory  authorities  also  conduct  inspections  of  manufacturing 
facilities and clinical trial sites before approving a product, which can delay approval. If compliance issues are found, it 
could  also result  in  refusal  to  approve  marketing applications,  disruption  of production  or distribution of  a  product  or 
product candidate, disruption, cancellation, or suspension of a study, or require substantial resources to correct. 

Even  if  marketing  authorization  of  a  product  candidate  is  granted,  the  approval  may  be  subject  to  limitations  on  the 
indicated uses for which the product may be marketed, the product may have labeling that includes significant restrictions, 
warnings, including black box warnings, and contraindications, the regulatory authorities may not approve label claims 
necessary for successful product marketing, or the approval may be subject to significant conditions of approval, including 
the requirement of a REMS. A regulatory authority also may impose requirements for costly post-marketing studies or 
clinical trials and surveillance to monitor the safety or efficacy of the product. In addition, the competent authorities of 
each EU member state and the FDA closely regulate the post-approval marketing and promotion of drugs to ensure drugs 
are  marketed  only  for  the  approved  indications  and  in  accordance  with  the  provisions  of  the  approved  labeling  and 
regulatory  requirements.  Such  regulatory  authorities  can  and  do  impose  stringent  restrictions  on  our  communications 
regarding off-label use and if we do not comply with the laws governing promotion of approved drugs, we may be subject 
to  enforcement  action  for  off-label  promotion.  For  example,  violations  of  the  FDCA  relating  to  the  promotion  of 
prescription drugs may lead to civil and criminal penalties, investigations alleging violations of federal and state healthcare 
fraud and abuse laws, as well as state consumer protection laws. 

In addition, later discovery of previously unknown adverse events or other problems with our products, manufacturers or 
manufacturing processes, or failure to comply with regulatory requirements, both before and after product approval, may 
yield various results which could negatively affect our business, including: 

restrictions on such products, manufacturers or manufacturing processes; 
changes to or restrictions on the labeling or marketing of a product; 

• 
• 
•  modifications to promotional pieces; 
• 
issuance of corrective information; 
• 
clinical holds or termination of clinical trials; 
• 
changes in the way a product is administered; 
• 
liability for harm caused to patients or subjects; 
• 
adverse publicity, reputational harm, or the product becoming less competitive; 
• 
regulatory  authority  issuance  of  safety  alerts,  Dear  Healthcare  Provider  letters,  press  releases,  or  other 
communications containing warnings or other safety information about the product; 
restrictions on product distribution or use; 
requirements to implement a REMS; 
requirements to conduct post-marketing studies or clinical trials; 

• 
• 
• 
•  warning, cyber or untitled letters; 
•  withdrawal of the products from the market or marketing suspensions; 
• 
• 
• 
• 

refusal to approve pending applications or supplements to approved applications that we submit; 
recall of products; 
fines, restitution or disgorgement of profits or revenues; 
suspension or withdrawal of marketing authorizations; 

88 

refusal to permit the import or export of our products; 
product seizure or detention; 
injunctions; 
the imposition of civil or criminal penalties; or 

• 
• 
• 
• 
•  FDA  debarment,  suspension  and  debarment  from  government  contracts,  and  refusal  of  orders  under  existing 
government  contracts,  exclusion  from  federal  healthcare  programs,  consent  decrees,  or  corporate  integrity 
agreements. 

Non-compliance with regulatory requirements regarding safety monitoring or pharmacovigilance, and with requirements 
related  to  the  development  of  products  for  the  pediatric  population,  can  also  result  in  significant  financial  penalties. 
Similarly, failure to comply with regulatory requirements regarding the protection of personal information can also lead 
to significant penalties and sanctions. 

Not only will we be responsible for our own conduct, but we will also be responsible for the conduct of our employees, 
independent  contractors,  consultants,  commercial  partners,  manufacturers,  investigators,  and  contract  research 
organizations.  To  the  extent  that  any  of  these  third  parties  engage  in  intentional,  reckless,  negligent,  or  unintentional 
failures to comply applicable legal and regulatory requirements, we may be subject to regulatory enforcement action, legal 
actions and liability, and serious harm to our reputation. Moreover, it is possible for a whistleblower to pursue a False 
Claims Act case against us as a result of such third party conduct, even if the government considers the claim unmeritorious 
and declines to intervene, which could require us to incur costs defending against such a claim. 

Any  of  the  above  events  could  prevent  us  from  achieving  or  maintaining  market  acceptance  of  the  particular  product 
candidate, if approved, or could substantially increase the costs and expenses of developing and commercializing such 
product, which in turn could delay or prevent us from generating significant revenues from its sale. Any of these events 
could further have other material and adverse effects on our operations and business and could adversely impact our stock 
price and could significantly harm our business, financial condition, results of operations, and prospects. 

We may face competition from biosimilar, generic, and similar products approved through abbreviated pathways, as 
well as products approved pursuant to full applications. 

Our  approved  products  may  face  competition  from  products  approved  via  abbreviated  pathways  as  well  as  products 
approved  pursuant  to  full  applications.    For  example,  our  biologic  products  may  face  competition  from  biosimilar  or 
interchangeable products.  Sponsors seeking approval of biosimilar or interchangeable products to ours would reference 
our  product  in  their  applications.  The  applicable  laws,  however,  establish  certain  protections  for  reference  biologic 
products. For example, there is a complex and involved framework for sponsors to bring patent infringement actions and 
actions for declaratory judgment. Accordingly, we may need to pursue costly and time-consuming patent infringement 
actions, which may include certain statutorily specified regulatory steps before an infringement action may be brought. 
We may also need to spend time and money defending an action for declaratory judgement that is brought by the biosimilar 
product sponsor. 

Another protection established for biologic products is a period of 12 years of exclusivity for reference products that begins 
on the date that the reference product was first licensed by the FDA. During this time, the FDA may not make the licensure 
of a biosimilar product effective. Biosimilar applications can, however, be submitted for FDA review beginning four years 
after the date of the reference product’s first licensure. This exclusivity period, however, is subject to certain limitations. 
For example, certain changes and supplements to an approved BLA, and certain subsequent applications filed by the same 
sponsor, manufacturer, licensor, predecessor in interest, or other related entity do not qualify for the 12-year exclusivity 
period. Moreover, there have been legislative efforts to decrease this period of exclusivity to a shorter timeframe. Future 
proposed budgets, international trade agreements and other arrangements or proposals may affect periods of exclusivity. 
Further,  even  if  our  biologic  product  candidates  qualify  for  biologic  exclusivity,  there  is  a  risk  that  the  FDA  will  not 
consider our product candidates to be reference products for competing products, potentially creating the opportunity for 
biosimilar  competition  sooner  than  anticipated.  Additionally,  this  period  of  regulatory  exclusivity  does  not  apply  to 
companies pursuing regulatory approval via their own traditional BLA, rather than via the abbreviated pathway. Moreover, 
the extent to which a biosimilar, once approved, will be substituted for any one of our reference products in a way that is 
similar to traditional generic substitution for non-biological products is not yet fully clear, and will depend on a number 

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of  marketplace  and  regulatory  factors  that  are  still  developing.  It  is  also  possible  that  payers  will  give  reimbursement 
preference to biosimilars, even over reference biologics, absent a determination of interchangeability.  Similarly, in the 
EU, another company could gain approval for a competing product based on an MAA with a completely independent data 
package that includes pharmaceutical tests, preclinical tests and clinical trials. 

For small molecule drug products, a pharmaceutical manufacturer may file an ANDA seeking approval of a generic copy 
of one of  our approved products. A  manufacturer  could also  submit  an  NDA under  section 505(b)(2),  referencing  the 
FDA’s finding of safety and efficacy for one of our drug products, while also conducting its own studies to support any 
product changes.  Any ANDA or 505(b)(2) NDA products referencing our approved products would be required to submit 
patent certifications to the FDA.  Unless the applicant does not seek approval until any of our Orange Book listed patents 
expire or, to the extent possible, carve out any of our Orange Book listed method of use patents, such an applicant would 
be required to submit what is known as a “Paragraph IV certification,” challenging the validity or enforceability of, or 
claiming non-infringement of, the listed patent or patents.  This would provide us with an opportunity to sue to enforce 
our patents, which would stay any FDA approval for 30 months from the patent or application owner’s receipt of the notice 
of the paragraph IV certification, the expiration of the patent, when the infringement case concerning each such patent is 
favorably decided in the applicant’s favor or settled, or such shorter or longer period as may be ordered by a court. While 
this would delay the approval of the generic or 505(b)(2) product, such actions would require significant time and cost. 

Our small molecule drug products may also be eligible for certain periods of regulatory exclusivity (e.g., five years for 
new chemical entities, three years for changes to an approved drug requiring a new clinical study, and seven years for 
orphan drugs), which preclude FDA approval (or in some circumstances, FDA filing and review of) an ANDA or 505(b) 
(2) NDA relying on the FDA’s finding of safety and effectiveness for the innovative drug.  These exclusivities, however, 
are also subject to certain limitations.  For instance, they would not block FDA acceptance and approval of full NDA 
applications.   

Even  with  the  various  protections  in  place,  we  may  not  be  successful  in  securing  or  maintaining  proprietary  patent 
protection for our products and product candidates necessary to prevail should we need to bring any challenges under the 
above FDA regulatory structures.  We may also not receive any anticipated periods of regulatory exclusivity. Competition 
that our products may face from biosimilar, interchangeable, generic, or 505(b)(2) NDA products could materially and 
adversely impact our future revenue, profitability, and cash flows and substantially limit our ability to obtain a return on 
the investments we have made in those product candidates. In the United States, this risk has increased in recent years as 
the FDA and the U.S. government have taken steps to encourage increased drug and biologic competition in the market, 
in an effort to bring down the cost of pharmaceutical products. 

Commercialization of Translarna and Upstaza has been in, and is expected to continue to take place in, countries that 
tend to impose strict price controls, which may adversely affect our revenues. Failure to obtain and maintain acceptable 
pricing and reimbursement terms for Translarna for the treatment of nmDMD or Upstaza for the treatment of AADC 
deficiency in the EEA and other countries where Translarna is available would delay or prevent us from marketing our 
product in such regions, which would adversely affect our business, results of operations, and financial condition. 

In some countries, particularly the member states of the EEA, the pricing of prescription pharmaceuticals is subject to 
strict governmental control. Each country in the EEA has its own pricing and reimbursement regulations and may have 
other regulations related to the marketing and sale of pharmaceutical products in the country. We generally will not be 
able to commence commercial sales of Translarna for the treatment of nmDMD or Upstaza for the treatment of AADC 
deficiency pursuant to the marketing authorization granted by the EC in any particular member state of the EEA until we 
conclude the applicable pricing and reimbursement negotiations and comply with any licensing, employment or related 
regulatory requirements in that country. In some countries we may be required to conduct additional clinical trials or other 
studies of our product, including trials that compare the cost-effectiveness of our product to other available therapies in 
order  to  obtain  reimbursement  or  pricing  approval.  We  may  not  be  able  to  conclude  pricing  and  reimbursement 
negotiations  or  comply  with  additional  regulatory  requirements  in  the  countries  in  which  we  seek  to  commercialize 
Translarna or Upstaza on a timely basis, or at all. 

The pricing and reimbursement process varies from country to country and can take a substantial amount of time from 
initiation to completion. Pricing negotiations may continue after reimbursement has been obtained. We cannot predict the 

90 

timing of Translarna’s or Upstaza’s commercial launch in countries where we are awaiting pricing and reimbursement 
guidelines. While we have submitted pricing and reimbursement dossiers with respect to Translarna for the treatment of 
nmDMD and Upstaza for the treatment of AADC deficiency in many EEA countries, we have only received both pricing 
and reimbursement approval on terms that are acceptable to us in a limited number of countries. 

The price that is approved by governmental authorities in any country pursuant to commercial pricing and reimbursement 
processes may be significantly lower than the price we are able to charge for sales under our reimbursed EAP programs 
and various forms of national “market access agreements” may need to be entered into to achieve reimbursement. In some 
instances, reimbursement may be subject to challenge, reduction or denial by the government and other payors. 

For example, in France, EAP and commercial sales of a product can begin while pricing and reimbursement rates are under 
discussion with the applicable government health programs. In the event that the negotiated price of the product is lower 
than the amount reimbursed for sales made prior to the conclusion of price negotiations, we may become obligated to 
repay such excess amount to the applicable government health program. We will make such retroactive reimbursement, if 
any, following the conclusion of price negotiations with the applicable government health authority. 

Further,  based  on  unsustainable  economics  imposed  by  the  arbitration  board  in  Germany  upon  the  conclusion  of  an 
arbitration process in 2016 with us and the German Federal Association of the Statutory Health Insurances, we delisted 
Translarna  from  the  German  pharmacy  ordering  system,  effective  April 1,  2016.  While  some  patients  and  healthcare 
professionals in Germany have been able to access Translarna through a reimbursed importation pathway possible under 
German law, there can be no assurance that other patients or healthcare professionals in Germany will be successful doing 
so or, if initially successful, that any or all will continue to be successful. We were required to reimburse payors in Germany 
the difference between the commercial price of Translarna and the price established by the arbitration board in Germany 
for sales made in Germany after December 2015, other than sales made pursuant to the reimbursed importation pathway. 

Political, economic and regulatory developments may further complicate pricing and reimbursement negotiations and there 
can be considerable pressure by governments and other stakeholders on prices and reimbursement levels, including as part 
of cost containment measures.  In addition, adverse clinical and regulatory developments may exacerbate these risks. 

Reference pricing used by various EU member states and parallel distribution, or arbitrage between low-priced and high-
priced member states, can further reduce prices and revenues. Publication of discounts by third-party payors or authorities 
may lead to further pressure on prices or reimbursement levels within the country of publication and other countries. 

If  we  fail  to  successfully  secure  and  maintain  pricing  and  reimbursement  coverage  for  Translarna  or  Upstaza  or  are 
significantly delayed in doing so or if burdensome conditions are imposed by private payers, government authorities or 
other  third-party  payors  on  such  reimbursement,  planned  launches  in  the  affected  countries  will  be  delayed  and  our 
business, results of operations and financial condition could be adversely affected. 

Our relationships with customers, healthcare providers and professionals, patients, patient organizations, and third-
party payors are or will be subject to applicable anti-kickback, fraud and abuse, transparency and other healthcare 
laws and regulations, which could expose us to criminal sanctions, civil penalties, contractual damages, reputational 
harm and diminished profits and future earnings. 

Healthcare  professionals  and  third-party  payors  play  a  primary  role  in  the  recommendation  and  prescription  of  any 
products or product candidates. Our arrangements with customers, healthcare professionals and third-party payors may 
expose us to broadly applicable fraud and abuse, transparency and other healthcare laws and regulations that may constrain 
the business or financial arrangements and relationships through which we market, sell and distribute our products for 
which we obtain marketing authorization.  Failure to maintain a comprehensive and effective compliance program, and to 
integrate the operations of any acquired businesses into a combined comprehensive and effective compliance program on 
a timely basis, could result in business practices and operations that expose us to a range of regulatory actions that could 
adversely affect our ability to commercialize our products and could harm or prevent sales of the affected products, or 
could substantially increase the costs and expenses of commercializing and marketing our products. 

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There are numerous restrictions and reporting requirements under applicable U.S. federal and state healthcare laws and 
regulations,  and  equivalent  laws  and  regulations  in  the  EU  and  other  countries  in  which  we  operate,  as  well  as  self-
regulatory codes.  Efforts to ensure that we and our business arrangements with third parties will comply with applicable 
healthcare  laws,  regulations,  transparency  requirements  and  self-regulatory  codes  have  and  will  continue  to  involve 
substantial  costs.  We  cannot  guarantee  that  we,  our  employees,  our  consultants,  our  third-party  contractors,  or  the 
healthcare professionals or entities with whom we expect to do business, are or will be in compliance with all federal, state 
and ex-U.S. regulations and codes. It is possible that governmental authorities could conclude that our business practices 
may not  comply  with current  or  future  statutes, regulations  or  case  law  involving  applicable  fraud  and  abuse or  other 
healthcare  laws  and  regulations.  If  our  operations  are  found  to  be  in  violation  of  any  of  these  laws  or  any  other 
governmental regulations that may apply to us, we may be subject to significant civil, criminal and administrative penalties, 
damages, fines, exclusion from government funded healthcare programs, such as Medicare and Medicaid, reputational 
harm,  and  the  curtailment  or  restructuring  of  our  operations.  Exclusion,  suspension  and  debarment  from  government 
funded healthcare, procurement and non-procurement programs would adversely affect, perhaps materially, our ability to 
commercialize,  sell  or  distribute  any  drug.  Even  if  we  were  not  determined  to  have  violated  these  laws,  government 
investigations into these issues typically require the expenditure of significant time and resources and generate negative 
publicity, which could also have an adverse effect on our business, financial condition and results of operations. 

Legislative and regulatory changes affecting the pharmaceutical industry or the healthcare system more broadly may 
increase the difficulty and cost for us to obtain or maintain marketing authorization of and commercialize our products 
and product candidates and affect the coverage and reimbursement we may obtain. 

Our industry is highly regulated and changes in law may adversely impact our business, operations, or financial results. In 
the United  States  and some ex-U.S.  jurisdictions,  there have  been  a number of  legislative  and  regulatory  changes  and 
proposed changes regarding the healthcare system that could prevent or delay marketing authorization of our products or 
product  candidates,  restrict or  regulate post-approval  activities  and  affect  our  ability  to profitably  sell any  products or 
product candidates for which we have obtained, or may obtain, marketing authorization. 

Certain  provisions  of  enacted  or  proposed  legislative  changes  may  negatively  impact  coverage  and  reimbursement  of 
healthcare items and services. For example, in the United States, the Medicare Modernization Act requires manufacturers 
to calculate and report a drug’s Average Sales Price used to reimburse providers for physician-administered drugs under 
Medicare Part B and changed the way Medicare covers and pays for pharmaceutical products. Cost reduction initiatives 
and other provisions of this legislation could decrease the coverage and reimbursement that we receive for any approved 
products. While the Medicare Modernization Act applies only to drug benefits for Medicare beneficiaries, private payors 
often follow Medicare coverage policy and payment limitations in setting their own policies. Therefore, any restrictions 
to  coverage  or  reductions  in  reimbursement  that  result  from  the  Medicare  Modernization  Act  may  result  in  a  similar 
coverage restriction or reimbursement reduction from private payors. In addition, private payors may implement coverage 
restrictions or payment reductions independently from federal programs such as Medicare. 

Similarly,  in  the  United  States,  the  Affordable  Care  Act  contains  provisions  that  may  reduce  the  profitability  of  drug 
products.  However,  legal  challenges  to  the  Affordable  Care  Act  may  contribute  to  the  uncertainty  of  the  ongoing 
implementation  and  impact  of  the  Affordable  Care  Act  and  also  underscore  the  potential  for  additional  reform  going 
forward. The Biden administration is expected to continue to take measures to further facilitate the implementation of the 
Affordable Care Act. We cannot assure that the Affordable Care Act, as currently enacted or as amended in the future, 
will not adversely affect our business and financial results. 

Promulgated and proposed regulatory changes could also affect coverage or reimbursement of our products and in 2016, 
CMS issued a final rule regarding the Medicaid drug rebate program, which among other things, revises the manner in 
which the “average manufacturer price” is to be calculated by manufacturers participating in the program and implements 
certain amendments to the Medicaid rebate statute created under the ACA. More recently, Congress amended the Medicaid 
statute, effective October 1, 2019, to exclude prices paid by secondary manufacturers for an authorized generic drug (but 
not a product approved under the BLA process) from the NDA holder’s AMP for the brand, thereby increasing the rebate 
amount and the 340B price for the brand. This was implemented by CMS in a final rule issued December 31, 2020.  The 
rule  also  expanded  the  definition  of  products  identified  as  “line  extensions”  and,  in  certain  circumstances,  required 
inclusion of patient copay assistance in Medicaid best price (effective January 1, 2023), thereby potentially increasing 

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Medicaid rebates paid by manufacturers for such drugs.  340B program guidance regulations on civil monetary penalties 
for statutory violations, which had been finalized in early 2017 but deferred, recently also went into effect. 

In 2020, the Trump administration issued several executive orders intended to lower the costs of prescription products and 
certain provisions in these orders have been incorporated into regulations. These regulations include an interim final rule 
implementing  a  most  favored  nation  model  for  prices  that  would  tie  Medicare  Part  B  payments  for  certain  physician-
administered pharmaceuticals to the lowest price paid in other economically advanced countries, effective January 1, 2021. 
That rule, however, has been subject to a nationwide preliminary injunction and, on December 29, 2021, CMS issued a 
final rule to rescind it. With issuance of this rule, CMS stated that it will explore all options to incorporate value into 
payments for Medicare Part B pharmaceuticals and improve beneficiaries' access to evidence-based care. 

More recently, on August 16, 2022, the IRA was signed into law by President Biden.  The new legislation has implications 
for  Medicare  Part  D,  which  is  a  program  available  to  individuals  who  are  entitled  to  Medicare  Part  A  or  enrolled  in 
Medicare Part B to give them the option of paying a monthly premium for outpatient prescription drug coverage. Among 
other things, the IRA requires manufacturers of certain drugs to engage in price negotiations with Medicare (effective 
beginning  in  2026),  with  prices  that  can  be  negotiated  subject  to  a  cap;  imposes  rebates  under  Medicare  Part  B  and 
Medicare Part D to penalize price increases that outpace inflation (first due in 2023); and replaces the Part D coverage gap 
discount program with a new discounting program (beginning in 2025).  The IRA permits the Secretary of the HHS to 
implement many of these provisions through guidance, as opposed to regulation, for the initial years.   

Specifically, with respect to price negotiations, Congress authorized Medicare to negotiate lower prices for certain costly 
single-source drug and biologic products that do not have competing generics or biosimilars and are reimbursed under 
Medicare Part B and Part D.  CMS may negotiate prices for ten high-cost drugs paid for by Medicare Part D effective 
starting in 2026, followed by 15 Part D drugs in 2027, 15 Part B or Part D drugs in 2028, and 20 Part B or Part D drugs in 
2029 and beyond.  This provision applies to drug products that have been approved for at least 9 years and biologics that 
have been licensed for 13 years, but it does not apply to drugs and biologics that have been approved for a single rare 
disease or condition.  Nonetheless, since CMS may establish a maximum price for these products in price negotiations, we 
would be fully at risk of government action if our products are the subject of Medicare price negotiations.  Moreover, 
given the risk that could be the case, these provisions of the IRA may also further heighten the risk that we would not be 
able to achieve the expected return on our drug products or full value of our patents protecting our products if prices are 
set after such products have been on the market for nine years.    

Further, the legislation subjects drug manufacturers to civil monetary penalties and a potential excise tax for failing to 
comply with the legislation by offering a price that is not equal to or less than the negotiated “maximum fair price” under 
the law or for taking price increases that exceed inflation. The legislation also requires manufacturers to pay rebates for 
drugs in Medicare Part D whose price increases exceed inflation. The new law also caps Medicare out-of-pocket drug 
costs at an estimated $4,000 a year in 2024 and, thereafter beginning in 2025, at $2,000 a year. 

 We anticipate that the U.S. Congress, administrative agencies, state legislatures and the private sector will continue to 
consider and may adopt healthcare policies intended to curb rising healthcare costs. These cost containment measures may 
include: 

• 
• 
• 
• 
• 
• 

• 

controls on government funded reimbursement for drugs; 
caps or mandatory discounts under certain government sponsored programs; 
controls on healthcare providers; 
challenges to the pricing of drugs or limits on reimbursement of specific products through other means; 
reform of drug importation laws and policies; 
expansion of use of managed care systems in which the healthcare providers contract to provide comprehensive 
healthcare for a fixed cost per person; and 
requirements or restrictions related to direct-to-consumer advertising or drug marketing practices. 

We are unable to predict what additional legislation, regulations or policies, if any, relating to the healthcare industry or 
third-party coverage and reimbursement may be enacted in the future or what effect such legislation, regulations or policies 
would have on our business. In particular, we are unable to predict what changes the Biden administration will implement 

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through the U.S. Congress or future executive orders and how these would impact us. Any cost containment measures, 
including those listed above, or other healthcare system reforms that are adopted, could significantly decrease the available 
coverage and the price we might establish for our products, which would have an adverse effect on our net revenues and 
operating results.  Changes in FDA laws, regulations, and policies may also make it more difficult to obtain and maintain 
marketing authorizations.  

In the EU, similar political, economic and regulatory developments may affect our ability to profitably commercialize 
Translarna,  Upstaza  and  our  product  candidates.  In  addition  to  continuing  pressure  on  prices  and  cost  containment 
measures, legislative developments at the EU or member state level may result in significant additional requirements or 
obstacles that may increase our operating costs. We cannot predict how future changes relating to healthcare reform in the 
EU, the United States, or other territories, will affect our business. 

Legislative  and  regulatory  proposals  have  also  been  made  to  expand  post-approval  requirements,  limit  regulatory 
exclusivity  periods  or  the  applicability  of  such  exclusivity  periods,  restrict  sales  and  promotional  activities  for 
pharmaceutical products and to otherwise encourage competition in the market and bring down drug prices, including 
proposals  related  to  drug  importation.  We  cannot  be  sure  whether  additional  legislative  or  regulatory  changes  will  be 
enacted in any territory in which we are authorized, or become authorized, to market our products or product candidates, 
or whether applicable regulations, guidance or interpretations will be changed, or what the impact of such changes on the 
marketing authorizations of our products or product candidates, if any, may be. In addition, increased scrutiny by the U.S. 
Congress  of  the  FDA’s  approval  process  or  by  comparable  ex-U.S.  bodies  overseeing  regulatory  authorities  in  other 
territories  may  significantly  delay  or  prevent  marketing  authorization,  as  well  as  subject  us  to  more  stringent  product 
labeling and post-marketing testing and other requirements. We cannot predict how future changes relating to pre- and 
post-marketing approval and requirements will affect our business. 

Risks Related to Our Business 

We may expend our resources to pursue a particular product, product candidate or indication and fail to capitalize on 
product candidates or indications that may be more profitable or for which there is a greater likelihood of success. 

We focus on products, research programs and product candidates for specific indications. As a result, we may forgo or 
delay  pursuit  of  opportunities  with  other  product  candidates  or  for  other  indications  that  later  prove  to  have  greater 
commercial potential. 

For example, in connection with our acquisition of Censa, we paid to the Censa securityholders (i) cash consideration of 
$15.0 million, which consisted of an upfront payment of $10.4 million and an additional $4.6 million for the net assets on 
Censa’s opening balance sheet as of the date of the acquisition, and (ii) 845,364 shares of our common stock.  Censa 
securityholders may also be entitled to receive contingent consideration payments from us in the future. For example, we 
expect to make payments to the former Censa securityholders of $65.0 million in the aggregate in cash upon the potential 
achievement in 2024 of regulatory milestones relating to sepiapterin pursuant to the Censa Merger Agreement. We may 
never realize the anticipated benefits of the acquisition of Censa and by investing our resources in sepiapterin, we may be 
required to forgo or delay other opportunities. 

In addition, we have previously commenced clinical trials that were not successful for a number of reasons, including 
inconsistent or negative data and difficulties identifying qualified patients. Our resource allocation decisions may cause 
us to fail to capitalize on viable commercial products or profitable market opportunities. Our spending on current and 
future research and development programs and product candidates for specific indications may not yield any commercially 
viable products. 

Notwithstanding our large investments to date and anticipated future expenditures in proprietary technologies for small-
molecule  drug  discovery,  to  date  we  have  been  granted  marketing  authorization  for  a  limited  number  of  commercial 
products  and  have  not  achieved  profitability.  We  may  never  realize  a  return  on  investment.  We  may  not  be  able  to 
successfully renew or satisfy the ongoing requirements of our current marketing authorizations for our current products 
and we may never successfully develop any other marketable drugs or indications using our scientific approach. As a result 
of pursuing the development of product candidates using our proprietary technologies, we may fail to develop product 

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candidates or address indications based on other scientific approaches that may offer greater commercial potential or for 
which there is a greater likelihood of success. Research programs to identify new product candidates require substantial 
technical, financial and human resources. These research programs may initially show promise in identifying potential 
product candidates, yet fail to yield product candidates for clinical development. For example, in May 2023, as part of our 
strategic portfolio prioritization, we decided to discontinue our preclinical and early research programs in our gene therapy 
platform, which included programs for Friedreich ataxia and Angelman syndrome, after previous significant investments 
in these programs. 

If we do not accurately evaluate the commercial potential or target market for a particular product candidate, we may 
relinquish valuable rights to that product candidate through collaboration, licensing or other royalty arrangements in cases 
in which it would have been more advantageous for us to retain sole development and commercialization rights to such 
product candidate. 

We  contract  with  third  parties  for  the  manufacture  and  distribution  of  our  products  and  certain  of  our  product 
candidates, which may increase the risk that we will not have sufficient quantities of our products or product candidates, 
such  quantities  may  not  meet  the  applicable  regulatory  quality  standards,  or  such  quantities  at  an  acceptable  cost, 
which could delay, prevent or impair our commercialization or development efforts. 

We have limited personnel with experience in drug manufacturing and currently rely on third parties to manufacture our 
products and certain product candidates on a clinical or commercial scale. We currently rely on third parties for supply of 
the  active  pharmaceutical  ingredients  used  in  all  of  our  products  and  product  candidates.  We  outsource  most  of  the 
manufacturing, packaging, labeling and distribution of our products and certain of our product candidates to third parties, 
including our commercial supply of Translarna, Emflaza and Upstaza. Additionally, we utilize the Hopewell Facility to 
produce  plasmid  DNA  and  AAV  vectors  for  gene  therapy  applications  for  external  customers.  With  respect  to  the 
Hopewell  Facility,  we  are  required  to  directly  comply  with  the  applicable  regulatory  authorities’  manufacturing 
requirements and are subject to inspection in the same way that our contract manufacturers are. For additional information, 
see  the  risk  factor  under  “Risks  Related  to  the  Development  and  Commercialization  of  our  Products  and  Product 
Candidates”  titled,  “Certain  of  our  products  and  product  candidates,  such  as  our  gene  therapies  and  other  biologic 
product candidates, may be difficult to produce, presenting manufacturing challenges that may delay product development 
and regulatory approval.” 

We  do  not  directly  control  manufacturing  for  our  products  and  product  candidates  and  we  are  dependent  on  and  will 
continue to be dependent on, our contract manufacturers for compliance with cGMP or good distribution practice, or GDP, 
or similar regulatory requirements outside the EU and the United States for manufacture of both active drug substances 
and finished drug products. Should we or our contract manufacturers fail to comply with these requirements, we and they 
could  face  significant  regulatory  and  commercial  consequences.  For  example,  regulatory  authorities  routinely  inspect 
manufacturing and other drug/biologic facilities. Our manufacturers and manufacturing facilities must also be approved 
by such regulatory authorities pursuant to inspections that will be conducted after we submit our marketing applications 
and will be subject to continuing regulatory authority inspections should we receive marketing approval. If our contract 
manufacturers  cannot  successfully  manufacture  material  that  conforms  to  our  specifications  and  the  strict  regulatory 
requirements of the EU member state regulatory authorities, FDA, or other ex-U.S. regulatory agencies, they will not be 
able to secure and/or maintain regulatory approval for the manufacturing facilities, and we would not be able to secure 
and/or  maintain,  or  may  be  delayed  in  securing  regulatory  approval  of  marketing  applications  or  supplements  for  the 
applicable products or product candidates. In addition, we or third-party manufacturers or distributors may not be able to 
comply with generally accepted worker safety standards, cGMP, GDP or similar regulatory requirements outside the EU 
and the United States. Our failure, or the failure of our third-party manufacturers or distributors, over whom we have no 
direct  control,  to  comply  with  applicable  regulations  could  result  in  sanctions  being  imposed  on  us,  including  fines, 
injunctions, civil penalties, delays, suspension or withdrawal of approvals, clinical holds or termination of clinical studies, 
warning or untitled letters, regulatory communications warning the public about safety issues with a product, import or 
export refusals, license revocation, seizures, detentions, or recalls of product candidates or products, operating restrictions, 
criminal  prosecutions  or  debarment,  suits  under  the  civil  False  Claims  act,  corporate  integrity  agreements,  or  consent 
decrees,  any  of  which  could  significantly  and  adversely  affect  our  reputation  and  supplies  of  our  products  or  product 
candidates and our business, results of operations and financial condition could be materially adversely affected. 

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In addition, we have no direct control over the ability of our contract manufacturers to maintain adequate quality control, 
quality  assurance  and  qualified  personnel.  Furthermore,  all  of  our  contract  manufacturers  are  engaged  with  other 
companies to supply and/or manufacture materials or products for such companies, which exposes our manufacturers to 
regulatory  risks  for  the  production  of  such  other  materials  and  products.  As  a  result,  failure  to  meet  the  regulatory 
requirements for the production of those materials and products may generally affect the regulatory status of our contract 
manufacturers’ facilities and our products or product candidates. If the FDA, EU member state regulatory authorities or a 
comparable ex-U.S. regulatory agency do not approve these or our facilities for the manufacture of our products or product 
candidates or if it withdraws its approval in the future, we may need to find alternative manufacturing facilities, which 
would  negatively  impact  our  ability  to  develop,  obtain  regulatory  approval  for  or  market  our  products  or  product 
candidates, if approved. There is also no guarantee that we would be able to find alternative manufacturing facilities or 
enter into agreements with alternative manufacturers on favorable terms. There may be limited manufacturers who would 
have  the  ability  to  manufacture  our  products  and  product  candidates,  especially  our  gene  therapy  product  candidates, 
particularly  as  the  pharmaceutical  manufacturing  industry  becomes  increasingly  more  consolidated.  Moreover,  any 
alternative  manufacturers  would  need  to  be  approved  by  the  relevant  regulatory  authority,  which  approval  is  not 
guaranteed. We, accordingly, may not be able to make alternative manufacturing arrangements, which could adversely 
affect  our  products,  product  candidates,  and  our  business,  results  of  operations  and  financial  condition.  See  “Item  1. 
Business—Manufacturing”  for  additional  information  regarding  the  manufacturing  of  our  products  and  product 
candidates. 

Even if we are able to establish and maintain arrangements with third-party manufacturers, distributors and other third 
parties, reliance on such third parties entails additional risks, including: 

• 
• 
• 
• 

• 

• 

• 

• 
• 

reliance on the third party for regulatory compliance and quality assurance; 
the possible breach of the agreements by the third party; 
the possible misappropriation of our proprietary information, including our trade secrets and know-how; 
the possibility of commercial supplies of our products not being distributed to commercial vendors or end users 
in a timely manner, resulting in lost sales; 
the  possibility  of  clinical  supplies  not  being  delivered  to  clinical  sites  on  time,  leading  to  clinical  trial 
interruptions; 
the possibility of third-party resources not being devoted  in the manner necessary to satisfy our requirements 
within the expected time frame; 
the possibility of third parties not providing us with accurate or timely information regarding their inventories, 
the number of patients who are using our products, or serious adverse events and/or product complaints regarding 
our products; 
the possibility of third parties being unable to satisfy their financial obligations to us or to others; and 
the  possible  termination  or  nonrenewal  of  a  critical  agreement  by  the  third  party  at  a  time  that  is  costly  or 
inconvenient to us. 

Many additional factors could cause production or distribution interruptions with the manufacture and distribution of any 
of our products and product candidates, including human error, natural disasters, labor disputes, acts of terrorism or war, 
equipment malfunctions, contamination, supply chain disruption, including disruptions caused by outbreaks of contagious 
disease, such as COVID-19, or raw material and component shortages. We have previously experienced delays in receiving 
certain raw materials in connection with supply chain disruptions caused by the COVID-19 pandemic, however, these 
delays did not affect or delay our manufacturing given our inventories for such materials at the time.  If future supply chain 
disruptions create prolonged delays, the supplies of our products or products candidates may be significantly and adversely 
affected and our business, results of operations and financial condition could be materially adversely affected. 

Our  products  and  product  candidates  and  any  other  products  that  we  may  develop  may  compete  with  other  product 
candidates and products for access to manufacturing facilities. There are a limited number of manufacturers that operate 
under cGMP regulations and that might be capable of manufacturing for us. In addition, changes in cGMP regulations 
could negatively impact our ability or the ability of our contract manufacturers to complete the manufacturing process of 
our products and our product candidates in a compliant manner on the schedule we require for commercial and clinical 
trial use, respectively. 

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If we or the third parties that we engage to manufacture product for our commercial sales, preclinical tests and clinical 
trials should, prior to the time that we have validated alternative providers, cease to continue to do so for any reason, we 
likely would experience delays in our ability to supply our products or product candidates to patients or in our ability to 
advance our clinical trials while we identify and qualify replacement suppliers and we may be unable to obtain replacement 
supplies on terms that are favorable to us. In addition, if we are not able to obtain adequate supplies of our products or 
product candidates or the drug substances used to manufacture them, we will lose commercial sales revenue and it will be 
more difficult for us to develop our product candidates and compete effectively.  

In addition, to the extent that any contract manufactures that we engage develop proprietary manufacturing processes or 
procedures, should we need to change manufacturers, we may not be able to transfer know-how to a new manufacturer. In 
such a case, the new manufacturer would need to invest substantial time, money, and effort to develop its own processes 
and procedures, which would require regulatory authority approval. 

Third parties might illegally distribute and sell counterfeit or unfit versions of our products that do not meet our rigorous 
manufacturing and testing standards. A patient who receives a counterfeit or unfit drug may be at risk for a number of 
dangerous health consequences. Our reputation and business could suffer harm as a result of counterfeit or unfit drugs sold 
under our brand name. In addition, thefts of inventory at warehouses, plants or while in-transit, which are not properly 
stored and which are sold through unauthorized channels, could adversely impact patient safety, our reputation and our 
business. 

Our current and anticipated future dependence upon others for the manufacture and distribution of Translarna, Emflaza, 
Upstaza, Tegsedi, Waylivra and our product candidates may adversely affect our business, financial condition, results of 
operations and limit our ability to grow including our ability to develop product candidates and commercialize our products 
that receive regulatory approval on a timely and competitive basis. 

We  rely  on  third  parties  to  conduct  our  preclinical  and  clinical  trials,  and  those  third  parties  may  not  perform 
satisfactorily, including failing to meet deadlines for the completion of such trials. 

We do not independently conduct preclinical or clinical trials for our products or product candidates. We rely on third 
parties, such as contract research organizations, clinical data management organizations, medical institutions and clinical 
investigators, to perform this function. While we have agreements governing the activities of such third parties, we have 
limited influence and control over their actual performance and activities. For instance, our third-party service providers 
are not our employees, and except for remedies available to us under our agreements with such third parties we cannot 
control  whether  or  not  they  devote  sufficient  time  and  resources  to  our  ongoing  clinical,  non-clinical,  and  preclinical 
programs. If these third parties do not successfully carry out their contractual duties, meet expected deadlines or conduct 
our preclinical studies or clinical trials in accordance with regulatory requirements or our stated protocols, if they need to 
be replaced or if the quality or accuracy of the data they obtain is compromised due to the failure to adhere to our protocols, 
regulatory requirements or for other reasons, our trials may be repeated, extended, delayed, or terminated, we may not be 
able to obtain, or may be delayed in obtaining, marketing approvals for our product candidates, we may not be able to, or 
may be delayed in our efforts to, successfully commercialize our product candidates, or we or they may be subject to 
regulatory  enforcement  actions.  As  a  result,  our  results  of  operations  and  the  commercial  prospects  for  our  product 
candidates would be harmed, our costs could increase and our ability to generate revenues could be delayed. To the extent 
we  are  unable  to  successfully  identify  and  manage  the  performance  of  third-party  service  providers  in  the  future,  our 
business may be materially and adversely affected. Further, any of these third parties may terminate their engagements 
with us at any time. If we need to enter into alternative arrangements, it will delay our product development activities. 

Our reliance on these third parties for clinical development activities reduces our control over these activities but does not 
relieve  us  of  our  responsibilities.  For  example,  we  remain  responsible  for  ensuring  that  each  of  our  clinical  trials  is 
conducted in accordance with the general investigational plan and protocols for the trial. We are required to monitor the 
activities of these third parties but our monitoring may not be able to detect any existing or emerging issues. Moreover, 
the FDA requires us to comply with standards, commonly referred to as GCP for conducting, recording and reporting the 
results of clinical trials to assure that data and reported results are credible and accurate and that the rights, integrity and 
confidentiality of trial participants are protected. We also are required to register ongoing clinical trials and post the results 
of completed clinical trials on a government-sponsored database, ClinicalTrials.gov, within certain timeframes. Failure to 

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do so can result in fines, adverse publicity and civil and criminal sanctions. In addition, we will be required to report certain 
financial interests of our third-party investigators if these relationships exceed certain financial thresholds or meet other 
criteria. The FDA or comparable ex-U.S. regulatory authorities may question the integrity of the data from those clinical 
trials conducted by investigators who may have conflicts of interest. We must further ensure that our preclinical trials are 
conducted in accordance with good laboratory practices, or GLPs, as appropriate. Regulatory authorities enforce these 
requirements  through  periodic  inspections  or  remote  regulatory  assessments  of  trial  sponsors,  clinical  and  preclinical 
investigators, and  trial  sites.  Similar  GCP and  transparency requirements  apply  in  the EU. Failure  to  comply with  the 
applicable regulatory requirements, including with respect to clinical trials conducted outside the EU and United States, 
can also lead regulatory authorities to refuse to accept into account clinical trial data submitted as part of a marketing 
application, as well as other regulatory consequences, as further described above. 

Furthermore, third parties that we rely on for our clinical development activities may also have relationships with other 
entities, some of which may be our competitors. If these third parties do not successfully carry out their contractual duties, 
meet expected deadlines or conduct our clinical trials in accordance with regulatory requirements or our stated protocols, 
we will not be able to obtain, or may be delayed in obtaining, marketing authorizations for our product candidates and will 
not  be  able  to,  or  may  be  delayed  in  our  efforts  to,  successfully  commercialize  our  product  candidates.  Our  product 
development costs will increase if we experience delays in testing or obtaining marketing authorizations. 

We also rely on other third parties to store and distribute drug supplies for our clinical trials. Any performance failure on 
the  part  of  our  distributors  could  delay  clinical  development  or  marketing  authorizations  of  our  products  or  product 
candidates  or  commercialization  of  our  products,  producing  additional  losses  and  depriving  us  of  potential  product 
revenue. 

We currently depend, and expect to continue to depend, on collaborations with third parties for the development and 
commercialization of some of our products and product candidates. If those collaborations are not successful, we may 
not be able to capitalize on the market potential of these products and product candidates. 

For each of our product candidates, we plan to evaluate the merits of retaining commercialization rights for ourselves or 
entering into selective collaboration arrangements with leading pharmaceutical or biotechnology companies, such as our 
collaborations with Roche and the SMA Foundation, for our spinal muscular atrophy program, including Evrysdi. We 
have entered into arrangements with certain third parties to market or distribute Translarna for the treatment of nmDMD 
in certain countries and, as we continue to implement our commercialization plans for Translarna, we anticipate that we 
will  engage  additional  third  parties  to  perform  these  functions  for  us  in  other  countries.  We  generally  plan  to  seek 
collaborators for the development and commercialization of product candidates that have high anticipated development 
costs, are directed at indications for which a potential collaborator has a particular expertise, or involve markets that require 
a  large  sales  and  marketing  organization  to  serve  effectively.  Our  likely  collaborators  for  any  marketing,  distribution, 
development, licensing or broader collaboration arrangements may include: large and mid-size pharmaceutical companies, 
regional and national pharmaceutical companies and/or biotechnology companies. 

We will have limited control over the amount and timing of resources that our collaborators dedicate to the development 
or commercialization of our product candidates and our collaborators will be subject to the same product development and 
commercialization risks that we are subject to. Our ability to generate revenues from these arrangements will depend on 
our collaborators’ desire and ability to successfully perform the functions assigned to them in these arrangements in a 
compliant  manner.  In  particular,  the  commercial  success  of  Evrysdi  will  depend  on  the  success  of  Roche’s 
commercialization  program.  Furthermore,  the  successful  development  of  another  product  candidate  from  our  spinal 
muscular  atrophy  program  will  depend  on  the  success  of  our  collaborations  with  the  SMA  Foundation  and  Roche, 
including whether Roche pursues clinical development of any other compounds identified under the collaborations.  

Collaborations involving our products and product candidates, including our collaborations with the SMA Foundation and 
Roche, pose the following risks to us: 

• 

collaborators have significant discretion in determining the efforts and resources that they will apply to these 
collaborations; 

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• 

• 

• 

• 

• 

• 

• 

• 

collaborators may not pursue development and commercialization of our products and product candidates or may 
elect not to continue or renew development or commercialization programs, based on clinical trial results, changes 
in the collaborators’ strategic focus or available funding, or external factors such as an acquisition that diverts 
resources or creates competing priorities; 
collaborators may delay clinical trials, provide insufficient funding for a clinical trial program, stop a clinical trial 
or abandon a product candidate, repeat or conduct new clinical trials or require a new formulation of a product 
candidate for clinical testing; 
collaborators could independently develop, or develop with third parties, products that replace or compete directly 
or indirectly with our products or product candidates if the collaborators believe that competitive products are 
more  likely  to  be  successfully  developed  or  can  be  commercialized  under  terms  that  are  more  economically 
attractive than ours; 
collaborators may fail to comply with the applicable regulatory requirements, subjecting them or us to potential 
regulatory enforcement action; 
a collaborator with marketing and distribution rights to one or more products may not commit sufficient resources 
to the marketing and distribution of such product or products; 
collaborators may not properly maintain or defend our intellectual property rights or may use our proprietary 
information in such a way as to invite litigation that could jeopardize or invalidate our intellectual property or 
proprietary information or expose us to potential litigation; 
collaborators may infringe the intellectual property rights of third parties, which may expose us to litigation and 
potential liability; 
disputes may arise between the collaborator and us as to the ownership of intellectual property arising during the 
collaboration; 

•  we may grant exclusive rights for our products or product candidates to our collaborators, which would prevent 

• 

• 

us from collaborating with others, or from using our products or product candidates ourselves; 
disputes may arise between the collaborators and us that result in the delay or termination of the collaboration, 
which  may  include  ending  research,  development  or  commercialization  activities  for  our  products  or  product 
candidates or that result in costly litigation or arbitration that diverts management attention and resources; and 
collaborations may be terminated and, if terminated, may result in a need for additional capital to pursue further 
development or commercialization of the applicable product candidates. 

Collaboration agreements may not lead to development or commercialization of product candidates in the most efficient 
manner or at all. If a collaborator of ours were to be involved in a business combination, the continued pursuit and emphasis 
on our product development or commercialization program could be delayed, diminished or terminated. 

We may rely on third parties to perform many essential services for any products that we commercialize, including 
services  related  to  warehousing  and  inventory  control,  distribution,  government  price  reporting,  customer  service, 
accounts receivable management, cash collection, and pharmacovigilance and adverse event reporting. If these third 
parties fail to perform as expected or to comply with legal and regulatory requirements, our ability to commercialize 
our product candidates will be significantly impacted and we may be subject to regulatory sanctions. 

We may retain third-party service providers to perform a variety of functions related to the sale and distribution of our 
product candidates, key aspects of which will be out of our direct control. These service providers may provide key services 
related to warehousing and inventory control, distribution, customer service, accounts receivable management, and cash 
collection. If we retain a service provider, we will substantially rely on it as well as other third-party providers that perform 
services for us, including entrusting our inventories of products to their care and handling. If these third-party service 
providers fail to comply with applicable laws and regulations, fail to meet expected deadlines, or otherwise do not carry 
out their contractual duties to us, or encounter physical or natural damage at their facilities, our ability to deliver product 
to meet commercial demand would be significantly impaired and we may be subject to regulatory enforcement action. 

In addition, we may engage third parties to perform various other services for us relating to pharmacovigilance and adverse 
event  reporting,  safety  database  management,  fulfillment  of  requests  for  medical  information  regarding  our  product 
candidates and related services. If the quality or accuracy of the data maintained by these service providers is insufficient, 
or these third parties otherwise fail to comply with regulatory requirements, we could be subject to regulatory sanctions. 

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Additionally,  we  may  contract  with  a  third  party  to  calculate  and  report  pricing  information  mandated  by  various 
government programs. If a third party fails to timely report or adjust prices as required, or errors in calculating government 
pricing information from transactional data in our financial records, it could impact our discount and rebate liability, and 
potentially subject us to regulatory sanctions or False Claims Act lawsuits. 

Our business and operations would suffer in the event of computer system failures, cyber-attacks or a deficiency in our, 
or our collaborators’ or third-party vendors’, cyber-security. 

We collect, store and transmit large amounts of confidential information, including personal information, operational and 
financial  transactions  and  records,  clinical  trial  data  and  information  relating  to  intellectual  property,  on  internal 
information systems and through the information systems of collaborators and third-party vendors with whom we contract. 
Despite  our  implementation  of  security  measures,  including  implementing  the  National  Institute  of  Standards  and 
Technology cybersecurity framework, instituting a training and compliance program on cybersecurity for all employees 
and doing a yearly external audit and penetration test, these information systems are vulnerable to damage from computer 
viruses, malware, ransomware, natural disasters, terrorism, war, telecommunication and electrical failures, cyber-attacks 
or  cyber-intrusions  over  the  Internet  or  other  mechanisms,  attachments  to  emails,  persons  inside  our  organization,  or 
persons with access to systems inside our organization. No such security measures can eliminate the possibility of the 
information systems’ improper functioning or the improper access or disclosure of confidential or personally identifiable 
information  such  as  in  the  event of  cyber-attacks.  Cybersecurity-related  risks have generally  increased  as  the number, 
intensity  and  sophistication  of  attempted  attacks  and  intrusions  from  around  the  world  have  increased.  Additionally, 
outside  parties  may  attempt  to  fraudulently  induce  employees,  collaborators,  or  other  third-party  vendors  to  disclose 
sensitive  information  or  take  other  actions,  including  making  fraudulent  payments  or  downloading  malware,  by  using 
“spoofing” and “phishing” emails or other types of attacks. If such an event were to occur and cause interruptions in our 
operations, it could result in a material disruption of our clinical and commercialization activities and business operations, 
in  addition  to  possibly  requiring  substantial  expenditures  of  resources  to  remedy,  despite  our  having  a  security  risk 
insurance  policy  and  disaster  recovery  and  incident  response  plans.  For  example,  the  loss  of  clinical  trial  data  from 
completed or ongoing or planned clinical trials could result in delays in our regulatory approval efforts and significantly 
increase our costs to recover or reproduce the data. To the extent that any disruption or security breach was to result in a 
loss of or damage to our data or applications, or inappropriate disclosure of confidential or proprietary information, we 
could incur material legal claims and liability, damage to our reputation, suffer loss or harm to our intellectual property 
rights, face significant financial exposure, including incurring significant costs to remediate possible injury to the affected 
parties and the further research, development and commercial efforts of our products and product candidates could be 
delayed. 

Product liability and other civil lawsuits against us could cause us to incur substantial liabilities and to limit clinical 
trials or commercialization of any current or future products. Our insurance program may not be extensive enough to 
adequately protect us against these risks. 

We face an inherent risk of product liability exposure related to the commercialization of our products and any product 
candidate that we may market or commercialize, any gene therapy product materials that we manufacture for third parties 
at the Hopewell Facility and in connection with the human clinical trials testing of our products and product candidates. If 
we  cannot  successfully  defend ourselves  against  claims  that  our product  candidates, products or gene  therapy  product 
materials caused injuries, we will incur substantial liabilities. Regardless of merit or eventual outcome, liability claims 
may result in: 

• 
• 
• 

reduced resources of our management to pursue our business strategy; 
decreased demand for our products or any product candidates that we may develop; 
decreased demand for the gene therapy product materials that we manufacture for third parties at the Hopewell 
Facility; 
injury to our reputation and significant negative media attention; 
the inability to continue current clinical trials or begin planned clinical trials; 

• 
• 
•  withdrawal or reduced enrollment of clinical trial participants; 
• 
significant costs to defend the related claims/litigation; 
• 
increased insurance costs, or an inability to maintain appropriate insurance coverage; 

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• 
• 
• 
• 
• 

substantial monetary awards to trial participants, patients and/or their families; 
loss of revenue; 
the inability to commercialize or to continue commercializing any products or product candidates; 
initiation of investigations and enforcement actions by regulators; and 
the  withdrawal  of  products  from  the  market,  product  recalls,  or  the  cessation  of  development  or  regulatory 
disapproval  of  product  candidates  or  withdrawal  of  approvals,  as  well  as  labeling,  marketing,  or  promotional 
restrictions. 

We  have  a  broad  insurance  program  covering  risks  appropriate  to  our  research  and  development  activities,  clinical 
programs, and aggregate annual limits of $25.0 million covering our products and sales. We also have industry standard 
insurance  policies  covering  other  aspects  of  our  business  and  operations  based  on  our  locations,  activities  and  other 
relevant factors. With respect to all insurance matters, we are advised by our insurance brokers and our insurance advisor, 
who we retain and compensate on a non-commission basis. However, our insurance program may not adequately cover 
the risks that we face for a variety of reasons, including: 

• 

• 

certain risks and related losses, such as delays to our clinical and development programs, are too speculative or 
unquantifiable for us to adequately insure against; 
if we were to face multiple claims, renewing or replacing our insurance may become more expensive, the terms 
(including deductibles and limits) we receive may worsen, and we may even have difficulty securing any coverage 
at all;  
• 
our insurance limits may not be adequate to cover all liabilities and defense costs that we may incur; and  
•  we may need to further increase our insurance coverage if we commercialize our current products in additional 

jurisdictions, our sales increase, or we commercialize new products.  

The  cost  of  insurance  coverage  is  highly  variable, based  on  a wide range  of  factors. We  may  not  be  able  to  maintain 
insurance coverage at a reasonable cost or in an amount adequate to satisfy any liability or defense costs that may arise. 

In addition, we could be subject to other costly civil litigation, including contractual claims with respect to our expected 
manufacturing of gene therapy product materials for potential external customers. If our customers believe that we have 
violated our contractual terms, they may seek reimbursement for the cost of our gene therapy product materials or other 
related losses, the cost of which could be significant. 

If we fail to comply with environmental, health and safety laws and regulations, we could become subject to fines or 
penalties or incur costs that could have a material adverse effect on the success of our business. 

We are subject to numerous environmental, health and safety laws and regulations, including those governing laboratory 
procedures, manufacturing and the handling, use, storage, treatment and disposal of hazardous materials and wastes. Our 
operations currently, and may in the future, involve the use of hazardous and flammable materials, including chemicals 
and medical and biological materials, and produce hazardous waste products. Even if we contract with third parties for the 
disposal of these materials and wastes, we cannot eliminate the risk of contamination or injury from these materials. In the 
event of contamination or injury resulting from our use of hazardous materials or disposal of hazardous wastes, we could 
be held liable for any resulting damages, and any liability could exceed our resources. 

In addition, we may incur substantial costs in order to comply with current or future environmental, health and safety laws 
and regulations. These current or future laws and regulations may impair our research, development or manufacturing and 
distribution efforts. Failure to comply with these laws and regulations also may result in substantial fines, penalties or 
other sanctions. 

Our future success depends on our ability to retain our chief executive officer and other key executives and to attract, 
retain and motivate qualified personnel. 

We are highly dependent on Dr. Matthew Klein, our Chief Executive Officer, and the other principal members of our 
executive, commercial and scientific teams. Although we have formal employment agreements with each of our executive 

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officers, these agreements do not prevent our executives from terminating their employment with us at any time. We do 
not maintain “key person” insurance on any of our executive officers. The loss of the services of any of these persons 
might impede the achievement of our research, development and commercialization objectives. 

Recruiting and retaining qualified scientific, clinical, manufacturing and sales and marketing personnel will also be critical 
to our success. We experience competition for the hiring of scientific and clinical personnel from numerous pharmaceutical 
and biotechnology  companies  as  well  as universities  and research  institutions. In  addition, we  rely on  consultants  and 
advisors,  including  scientific  and  clinical  advisors,  to  assist  us  in  formulating  our  research  and  development  and 
commercialization strategy. Our consultants and advisors may be employed by employers other than us and may have 
commitments under consulting or advisory contracts with other entities that may limit their availability to us. 

Risks Related to our Intellectual Property 

If we are unable to obtain and maintain patent protection for our technology and products, or if the scope of the patent 
protection is not sufficiently broad, our competitors could develop and commercialize technology and products similar 
or  identical  to  ours,  and  our  ability  to  successfully  commercialize  our  technology  and  products  may  be  adversely 
affected. 

Our success depends in large part on our ability to obtain and maintain patent protection or other intellectual property 
rights with respect to our proprietary technology and products. One primary way that we seek to protect our proprietary 
position is by filing patent applications in the United States and in certain ex-U.S. jurisdictions related to our proprietary 
technology and products. This process is expensive and time-consuming, and we may not be able to file and prosecute all 
necessary or desirable patent applications. It is also possible that we will fail to file a patent application on patentable 
aspects of our research and development. Moreover, if we license technology or product candidates from third parties, 
these license agreements may not permit us to control the filing and prosecution of patent applications, or to maintain or 
enforce the patents. These agreements could also give our licensors the right to enforce the licensed patents without our 
involvement, or to decide not to enforce the patents at all. Therefore, these patents and applications may not be prosecuted 
and enforced in a manner consistent with the best interests of our business. 

The patent position of biotechnology and pharmaceutical companies generally is highly uncertain, involves complex legal 
and factual questions and has in recent years been the subject of much litigation. As a result, the commercial value of our 
patent rights are highly uncertain. Our pending and future patent applications may not result in patents being issued which 
prevent others from commercializing competitive technologies and products. Changes in patent laws or their interpretation 
in the United States and other countries may diminish the value of our patents. 

The laws of ex-U.S. countries may not protect our rights to the same extent as the laws of the United States. For example, 
patent law in many countries restricts the patentability of methods of treatment of the human body more than U.S. law 
does.  In  addition,  we  may  not  pursue  or  obtain  or  be  able  to  pursue  or  obtain  patent  protection  in  all  major  markets. 
Assuming  the  other  requirements  for  patentability  are  met,  currently,  the  first  to  file  a  patent  application  is  generally 
entitled to the patent. However, prior to March 16, 2013, in the United States, the first to invent was entitled to the patent. 
Publications of discoveries in the scientific literature often lag behind the actual discoveries, and patent applications in the 
United States and other jurisdictions are typically not published until 18 months after filing, or in some cases not at all. 
Therefore, we cannot know with certainty whether we were the first to make the inventions claimed in our patents or 
pending patent applications, or that we were the first to file for patent protection of such inventions. In addition, the Leahy-
Smith America Invents Act of 2011, or the Act, which reformed certain patent laws in the U.S., may create additional 
uncertainty. The significant changes engendered by the Act include switching from a “first-to-invent” system to a “first-
to-file” system, and the implementation of new procedures that permit competitors to challenge our patents in the USPTO 
after grant, including inter partes review and post grant review. 

Moreover, we may be subject to a third party prior art submissions in a patent office, or may become involved in patent 
office proceedings, including oppositions, derivation proceedings, reexamination, inter partes review, post grant review, 
interference proceedings, or litigation, in the United States or elsewhere, challenging our patent rights or the patent rights 
of  others.  An  adverse  determination  in  any  such  submission,  proceeding  or  litigation  could  reduce  the  scope  of,  or 
invalidate, our patent rights, allow third parties to commercialize our technology or products and compete directly with 

102 

us, without payment to us, or result in our inability to manufacture or commercialize products without infringing third-
party patent rights. In addition, if the breadth or strength of protection provided by our patents and patent applications is 
threatened, it could dissuade companies from collaborating with us. 

Even if our patent applications issue as patents, they may not issue in a form that will provide us with any meaningful 
protection  or  prevent  competitors  from  competing  with  us.  Our  competitors  may  be  able  to  circumvent  our  owned  or 
licensed patents by developing alternative technologies or products in a non-infringing manner. Other companies may also 
attempt to circumvent any regulatory data protection or market exclusivity that we obtain under applicable legislation, 
which may require us to allocate significant resources to prevent such circumvention. Legal and regulatory developments 
in  the  European  Union,  or  EU,  and  elsewhere  may  also  result  in  clinical  trial  data  and  other  information,  that  would 
ordinarily be treated as trade secret, submitted as part of a marketing authorization application becoming publicly available. 
The  EMA  Policy  on  publication  of  clinical  data  and  other  such  information,  as  well  as  the  current  application  of  EU 
freedom of information regulations, could impact our proprietary information (comprising both clinical and non-clinical 
data and other information) that would normally be maintained by a regulatory body as commercially confidential. Such 
developments could enable other companies to circumvent our intellectual property rights and use our clinical trial data or 
other information to obtain marketing authorizations in the EU and in other jurisdictions where we have not been able to 
obtain any intellectual property or regulatory protection, resulting in loss of market share. Such developments may also 
require  us  to  allocate  significant  resources  or  engage  in  litigation  to  prevent  other  companies  from  circumventing  or 
violating  our  intellectual  property  rights.  Our  attempts  to  prevent  third  parties  from  circumventing  or  violating  our 
intellectual property and other rights may ultimately be unsuccessful. We may also fail to take the required actions to 
maintain our patents. 

For example, during 2015, we were notified by the EMA that it had received from another pharmaceutical company a 
request under Regulation (EC) No 1049/2001 seeking access to aspects of our marketing authorization for Translarna for 
the treatment of nmDMD. Following the decision of the EMA to release such documentation with only minimal redactions 
we initiated litigation before the General Court of the EU to prevent disclosure of this information. In the first quarter of 
2018, the Court ruled in favor of the EMA, allowing the EMA to release the documentation. We appealed the General 
Court’s decision to the Court of Justice of the EU, or CJEU, but the CJEU dismissed our appeal in January 2020 and 
released the information to the requester. 

An issued patent may be challenged, and our owned and licensed patents may be challenged in the courts or patent offices 
in the United States and abroad. Such challenges may result in loss of exclusivity or freedom to operate or in patent claims 
being narrowed, invalidated or held unenforceable, in whole or in part, which could limit our ability to stop others from 
using  or  commercializing  similar  or  identical  technology  and  products.  Given  the  amount  of  time  required  for  the 
development, testing and regulatory review of new product candidates, patents protecting such candidates might expire 
before  or  shortly  after  such  candidates  are  commercialized.  As  a  result,  our  patent  portfolio  may  not  provide  us  with 
sufficient rights to exclude others from commercializing products similar or identical to ours. 

We may become involved in lawsuits to protect or enforce our intellectual property, which could be expensive, time 
consuming and unsuccessful. 

Competitors may infringe our intellectual property. To counter infringement or unauthorized use, we may be required to 
file a lawsuit and claims for damages, which can be expensive and time consuming. Any claims we assert against perceived 
infringers could provoke these parties to assert counterclaims against us alleging that we infringe their intellectual property 
or  defenses,  such  that  they  do  not  infringe  our  intellectual  property  or  that  our  intellectual  property  is  invalid  or 
unenforceable.  In  addition,  in  a patent  infringement proceeding,  a  court  may  decide  that  a patent of  ours  is  invalid or 
unenforceable, in whole or in part, construe the patent’s claims narrowly or may refuse to stop the other party from using 
the technology at issue. 

103 

Third parties may initiate legal proceedings alleging that our patents are invalid and unenforceable or that we are 
infringing their intellectual property rights, the outcome of which would be uncertain and could have a material adverse 
effect on the success of our business. 

Our commercial success depends upon our ability and the ability of our collaborators to develop, manufacture, market and 
sell  our  products  and  our  product  candidates  and  use  our  proprietary  technologies  without  infringing  the  intellectual 
property and other proprietary rights of third parties. We may not be aware of all intellectual property rights potentially 
relating  to  our  product  and  our  product  candidates.  Typically,  patent  applications  in  the  United  States  and  other 
jurisdictions are not published until 18 months after filing, or in some cases not at all, and new patent applications are 
continuously publishing.  Thus, we may not be aware of patents or patent applications relating to our product or our product 
candidates. There may be pending or future patent applications that, if issued, would block us from commercializing our 
products. Thus, we do not know with certainty whether any of our products or product candidates, or our commercialization 
thereof, would or would not infringe any third party’s intellectual property. 

We may become party to, or threatened with, future adversarial proceedings or litigation regarding intellectual property 
rights  or  other  proprietary  with  respect  to  our  products  and  technology.  Third  parties  may  assert  infringement  claims 
against us based on existing or future intellectual property rights. We may allege that a third party patent we are alleged to 
infringe is invalid and/or we may be able to avail ourselves in the United States of the safe harbor exemption provided by 
the Hatch-Waxman Act as a basis for non-infringement. In order to successfully challenge the validity of a third party 
issued U.S. patent that we are alleged to infringe, we would need to overcome that patent’s presumption of validity in 
district court or prove unpatentability by a preponderance of the evidence before the USPTO in a post grant proceeding. 
There is no assurance that a court or the USPTO would find these claims to be invalid or unpatentable, respectively.  

If we are found to infringe a third party’s intellectual property rights, or in order to avoid or settle litigation, we may seek 
to obtain a license to continue developing and marketing our products and technology. However, we may not be able to 
obtain any such license on commercially reasonable terms or  at all. Also, any license obtained may be non-exclusive, 
thereby giving our competitors access to the same technologies licensed to us, and could require us to make substantial 
payments. We could be forced, including by court order, to cease commercializing an alleged infringing technology or 
product. In addition, we could be found liable for monetary damages if we are found to have willfully infringed a patent 
or other intellectual property right. A finding of infringement could prevent us from commercializing our products or our 
product candidates or force us to cease some of our business operations, which could materially harm our business. Claims 
that we have misappropriated the confidential information or trade secrets of third parties could have a similar negative 
impact on our business. 

We may be subject to claims by third parties asserting that we or our employees have misappropriated their intellectual 
property, or claiming ownership of what we regard as our own intellectual property. 

Many  of  our  employees  were  previously  employed  at  universities  or  other  companies,  including  our  competitors  or 
potential competitors. Although we try to ensure that our employees do not use the proprietary information or know-how 
of others in their work for us, we may be subject to claims that we or these employees have used or disclosed intellectual 
property of any such employee’s former employer. Litigation may be necessary to defend against these claims. 

In  addition,  while  we  typically  require  our  employees  and  contractors  who  may  be  involved  in  the  development  of 
intellectual property to execute agreements assigning such intellectual property to us, we may be unsuccessful in executing 
such an agreement with each party who in fact develops intellectual property that we regard as our own. Our and their 
assignment agreements may not be self-executing or may be breached, and we may be forced to bring claims against third 
parties,  or  defend  claims  they may bring  against  us,  to determine  the  ownership  of what we regard as  our  intellectual 
property. 

If we fail in prosecuting or defending any such claims, in addition to paying monetary damages, we may lose valuable 
intellectual  property  rights  or  personnel.  Even  if  we  are  successful  in  prosecuting  or  defending  against  such  claims, 
litigation could result in substantial costs and be a distraction to management. 

104 

Intellectual property litigation could cause us to spend substantial resources and could distract our personnel from 
their normal responsibilities. 

Even if resolved in our favor, litigation or other legal proceedings relating to intellectual property claims may cause us to 
incur significant expenses and could distract our technical and management personnel from their normal responsibilities. 
In addition, there could be public announcements of the results of such proceedings. If securities analysts or investors 
perceive these results to be negative, it could have a substantial adverse effect on the price of our common stock. Such 
litigation  or  proceedings  could  substantially  increase  our  operating  losses  and  reduce  the  resources  available  for 
development, sales, marketing or distribution activities. We may not have sufficient resources to adequately conduct such 
litigation or proceedings. Some of our competitors may be able to sustain the costs of such litigation or proceedings more 
effectively than we can because of their greater resources. Uncertainties resulting from the initiation and continuation of 
patent litigation or other proceedings could have a material adverse effect on our ability to compete in the marketplace. 

Without patent protection, our marketed products may face generic competition. 

Certain of the products we market have no or limited patent protection and, as a result, potential competitors face fewer 
regulatory barriers in introducing competing products. Without patent protection or other regulatory exclusivity, we may 
not be able to exclude others from, among other things, selling or importing similar products in any jurisdiction. In some 
instances, we may rely on trade secrets and other unpatented proprietary information to protect our commercial position, 
although we may be unable to provide adequate protection for our commercial position via these means. In other instances, 
we may need to rely on regulatory exclusivity to protect our commercial position. 

Furthermore, generic competition against a branded product often results in decreases in the prices at which the branded 
product can be sold, particularly when there is more than one generic product available in the marketplace. Third-party 
companies could also develop products that are similar, but not identical, to our marketed products, such as an alternative 
formulation of our product or an alternative formulation combined with a different delivery technology, and seek approval 
in the United States by referencing our products and relying, to some degree, on the FDA’s finding that our products are 
safe and effective in their approved indications. In addition, legislation enacted in the United States allows for, and in a 
few instances, in the absence of specific instructions from the prescribing physician, mandates the dispensing of generic 
products rather than branded products where a generic version is available. 

On February 9, 2017, the FDA approved the corticosteroid Emflaza for the treatment of patients 5 years and older with 
DMD. Although approved for other indications outside of the United States, this was the first approval for deflazacort in 
the United States and the first approval in the United States for the use of a corticosteroid to treat DMD. We have previously 
relied on this exclusivity period to commercialize Emflaza in the United States. Emflaza’s seven-year period of orphan 
drug exclusivity related to the treatment of DMD in patients five years and older expired in February 2024. We expect the 
expiration of this orphan drug exclusivity to have a significant negative impact on Emflaza net product revenue. Emflaza’s 
orphan drug exclusivity related to the treatment of DMD in patients two years of age to less than five expires in June 2026. 

We currently have no issued patents that could prevent a third-party company from seeking to introduce a generic Emflaza 
formulation in the United States for the treatment of DMD or another indication, and we do not expect to be able to obtain 
such patent protection. Such third-party companies may also obtain patents covering a new deflazacort formulation or 
method of use. 

If  we  are  unable  to  protect  the  confidentiality  of  our  trade  secrets,  our  business  and  competitive  position  would  be 
harmed. 

In addition to seeking patents and regulatory exclusivity for some of our technology and products, we also rely on trade 
secrets,  including  unpatented  know-how,  technology  and  other  proprietary  information,  to  maintain  our  competitive 
position.  More  particularly,  we  may  rely  on  trade  secrets  and  other  unpatented  proprietary  information  to  protect  our 
competitive position related to our products and product candidates, especially when patent protection is not obtainable. 
We seek to protect these trade secrets, in part, by entering into non-disclosure and confidentiality agreements with parties 
who  have  access  to  them,  such  as  our  employees,  corporate  collaborators,  outside  scientific  collaborators,  contract 
manufacturers, consultants, advisors, partners and other third parties. We also enter into confidentiality and invention or 

105 

patent assignment agreements with our employees and consultants. However, we cannot guarantee that we have executed 
these agreements with each party that may have or have had access to our trade secrets or that the agreements we have 
executed will provide adequate protection. Any party with whom we have executed such an agreement may breach that 
agreement and disclose our proprietary information, including our trade secrets, and we may not be able to obtain adequate 
remedies for such breaches. Enforcing a claim that a party illegally disclosed or misappropriated a trade secret is difficult, 
expensive and time-consuming, and the outcome is unpredictable. In addition, some courts inside and outside the United 
States are less willing or unwilling to protect trade secrets. If any of our trade secrets were to be lawfully obtained or 
independently developed by a competitor, we would have no right to prevent them, or those to whom they communicate 
it,  from  using  that  technology  or  information  to  compete  with  us.  If  any  of  our  trade  secrets  were  to  be  obtained  or 
independently  developed  by  a  competitor,  our  competitive  position  would  be  harmed.  If  our  employees,  corporate 
collaborators, outside scientific collaborators, contract manufacturers, employees, consultants, advisors, partners and other 
third parties develop new inventions or processes related to our products independently, or jointly with us, that may be 
applicable to our products under development, disputes may arise about ownership or proprietary rights to those inventions 
and processes. Enforcing a claim that a third party illegally obtained and is using any of our inventions or trade secrets is 
expensive  and  time-consuming,  and  the  outcome  is  unpredictable.  In  addition,  courts  outside  of  the  United  States  are 
sometimes  less  willing  to  protect  trade  secrets.  Moreover,  our  competitors  may  independently  develop  equivalent 
knowledge, methods and know-how. 

We have not yet registered our trademarks in all of our potential markets, and failure to secure those registrations could 
adversely affect our business. 

Our trademark applications may be refused registration, or our registered trademarks may not be maintained or may be 
found  to  be  unenforceable.  During  trademark  examination  proceedings,  our  trademark  applications  may  be  rejected. 
Although  we  are  given  an  opportunity  to  respond  to  those  rejections  in  most  jurisdictions,  we  may  not  be  able  to 
successfully overcome them. In addition, in the U.S. Patent and Trademark Office and Trademark Offices in many other 
jurisdictions, third parties are given an opportunity to oppose pending trademark applications or to seek cancellation of 
registered trademarks. Opposition or cancellation proceedings may be filed against our trademarks, and our trademarks 
may  not  survive  such  proceedings.  Further,  if  we  do  not  secure  registrations  for  our  trademarks,  we  may  encounter 
difficulty enforcing our trademark rights against third parties in the jurisdictions where we do not have registered rights. 

If we are not able to obtain adequate trademark protection or regulatory approval for our brand names, we may be 
required to re-brand affected products, which could cause delays in getting such products to market and substantially 
increase our costs. 

To protect our rights in any trademark we intend to use for our products or product candidates, we may seek to register 
such trademarks. Trademark registration is territory-specific and we must apply for trademark registration in the United 
States as well as any other country where we intend to commercialize our product or product candidates. Failure to obtain 
trademark registrations may place our use of the trademarks at risk or make them subject to legal challenges, which could 
force us to choose alternative names for our product or product candidates. In addition, the FDA, and other regulatory 
authorities  outside  the  United  States,  conduct  an  independent  review  of  proposed  product  names  for  pharmaceuticals, 
including an evaluation of the potential for confusion with other pharmaceutical product names for medications, which 
could result in medication errors in prescribing, dispensing and consumption. These regulatory authorities may also object 
to a proposed product name if they believe the name inappropriately makes or implies a therapeutic claim. If the FDA or 
other regulatory authorities outside the United States object to any of our proposed product names, we may be required to 
adopt alternative names for our product or product candidates. If we adopt alternative names, either because of our inability 
to obtain a trademark registration or because of objections from regulatory authorities, we would lose the benefit of our 
existing trademark applications and the rights attached thereto. Consequently, we may be required to expend significant 
additional resources in an effort to adopt a new product name that would be registrable under applicable trademark laws, 
not infringe the existing rights of third parties and be acceptable to the FDA and other regulatory authorities, which could 
cause delays in getting our products to market and substantially increase our costs. Furthermore, in the United States and 
many other jurisdictions, a trademark registration may be cancelled through cancellation or forfeiture proceedings brought 
by a third party or from non-use of the trademark in that jurisdiction.  We may not be able to build a successful brand 
identity for a new trademark in a timely manner or at all, which would limit our ability to commercialize our product or 
our product candidates. 

106 

Our rights to develop and commercialize Upstaza are subject, in part, to the terms and conditions of licenses granted to 
us by others. 

We  depend  upon  the  intellectual  property  rights  granted  to  us  under  licenses  from  third  parties  that  are  important  or 
necessary to the development of Upstaza for the treatment of AADC deficiency. In particular, we have in-licensed certain 
intellectual property rights and know-how from National Taiwan University, or NTU, relevant to Upstaza for the treatment 
of AADC deficiency. Any termination of these licenses could result in the loss of significant or all rights licensed to us 
and could harm or prevent our ability to commercialize Upstaza for the treatment of AADC deficiency. Each of our existing 
gene therapy licensing agreements are exclusive but are limited to particular fields, such as AADC deficiency and are 
subject to certain retained rights.  

Our current gene therapy license agreements, including our agreement with NTU pursuant to which we have in-licensed 
certain  intellectual  property  rights  and  know-how  relevant  to  Upstaza  for  the  treatment  of  AADC  deficiency, impose 
various  obligations,  including  certain  payment  obligations,  including  contingent  payments  to  be  made  upon  reaching 
certain development and regulatory milestones. If we fail to satisfy our obligations, the licensor may have the right to 
terminate the agreement. Disputes may arise between us and any of our licensors regarding intellectual property subject to 
such agreements and other issues. Such disputes over intellectual property that we have licensed or the terms of our license 
agreements, including with respect to Upstaza for the treatment of AADC deficiency, may prevent or impair our ability to 
maintain our current arrangements on acceptable terms, or at all, or may impair the value of the arrangement to us. Any 
such dispute could have a material adverse effect on our business and our ability to realize the anticipated benefits of our 
acquisition  of  Agilis.  If  we  cannot  maintain  a  necessary  license  agreement,  including  with  respect  to  Upstaza for  the 
treatment  of  AADC  deficiency,  or  if  the  agreement  is  terminated,  we  may  be  unable  to  successfully  develop  and 
commercialize the affected product candidates. 

If we fail to comply with our obligations in our intellectual property licenses and funding arrangements with third 
parties, we could lose rights that are important to our business. 

We are a party to a number of license agreements and expect to enter into additional licenses in the future. Our existing 
licenses impose, and we expect that future licenses will impose, various diligence, milestone payment, royalty, insurance 
and other obligations on us. If we fail to comply with these obligations, the licensor may have the right to terminate the 
license, in which event we might not be able to market any product that is covered by these agreements, which could 
materially adversely affect the value of the product candidate being developed under such license agreement. Termination 
of these license agreements or reduction or elimination of our licensed rights may result in our having to negotiate new or 
reinstated licenses with less favorable terms or cause us to lose rights in important intellectual property or technology. 

We have also received grant funding for some of our development programs from philanthropic organizations and patient 
advocacy groups pursuant to agreements that impose development and commercialization diligence obligations on us. If 
we fail to comply with these obligations, the applicable organization could require us to grant to the organization exclusive 
rights  under  certain  of  our  intellectual  property,  which  could  materially  adversely  affect  the  value  to  us  of  product 
candidates covered by that intellectual property even if we are entitled to a share of any consideration received by such 
organization in connection with any subsequent development or commercialization of the product candidates. 

Some  of  our  patented  technology  was  developed  with  U.S.  federal  government  funding.  When  new  technologies  are 
developed  with  U.S.  government  funding,  the  government  obtains  certain  rights  in  any  resulting  patents,  including  a 
nonexclusive  license  authorizing  the  government  to use  the  invention  for  non-commercial  purposes. These rights may 
permit the government to disclose our confidential information to third parties and to exercise “march-in” rights to use or 
allow third parties to use our patented technology. The government can exercise its march-in rights if it determines that 
action is necessary because we fail to achieve practical application of the U.S. government-funded technology, because 
action is necessary to alleviate health or safety needs, to meet requirements of federal regulations or to give preference to 
U.S. industry. In addition, U.S. government-funded inventions must be reported to the government and U.S. government 
funding must be disclosed in any resulting patent applications. Furthermore, our rights in such inventions are subject to 
government license rights and certain restrictions on manufacturing products outside the United States. 

107 

Risks Related to our Common Stock 

Servicing the 2026 Convertible Notes requires a significant amount of cash. We may not have sufficient cash flow from 
our business  to  make payments  on our debt,  and  we  may  not  have  the  ability  to  raise  the  funds  necessary  to settle 
conversions of, or to repurchase, the 2026 Convertible Notes upon a fundamental change, which could adversely affect 
our business, financial condition and results of operations. 

In  September 2019,  we  incurred  indebtedness  in  the  amount  of  $287.5  million  in  aggregate  principal  with  additional 
accrued interest under the 2026 Convertible Notes, for which interest is payable semi-annually in arrears on March 15 and 
September 15 of each year, beginning on March 15, 2020. Our ability to make scheduled payments of the principal of, to 
pay  interest  on  or  to  refinance  the  2026  Convertible  Notes depends  on  our  future  performance,  which  is  subject  to 
economic, financial, competitive and other factors beyond our control. Our business may not generate cash flow from 
operations in the future sufficient to service our debt, including the 2026 Convertible Notes. If we are unable to generate 
cash flow, we may be required to adopt one or more alternatives, such as selling assets, restructuring debt or obtaining 
additional equity capital on terms that may be unfavorable to us or highly dilutive. Our ability to refinance our indebtedness 
will depend on the capital markets and our financial condition at the time we seek to refinance such indebtedness. We may 
not be able to engage in any of these activities or engage in these activities on desirable terms, which could result in a 
default on our debt obligations. 

Upon conversion of the 2026 Convertible Notes, unless we elect to deliver solely shares of our common stock to settle 
such conversion (other than paying cash in lieu of delivering any fractional shares), we will be required to make cash 
payments in respect of the 2026 Convertible Notes being converted. However, we may not have enough available cash or 
be able to obtain financing at the time we are required to repurchase 2026 Convertible Notes, to pay the 2026 Convertible 
Notes at maturity or to pay cash upon conversions of 2026 Convertible Notes. In addition, our ability to repurchase 2026 
Convertible  Notes or  to  pay  cash  upon  conversions  of  2026  Convertible  Notes may  be  limited  by  law,  by  regulatory 
authority or by agreements governing our future indebtedness. Our failure to repurchase 2026 Convertible Notes at a time 
when the repurchase is required by the indenture, to make interest payments on the 2026 Convertible Notes when due 
under the indenture or to pay any cash payable on future conversions of the 2026 Convertible Notes as required by the 
indenture would constitute a default under the indenture governing the 2026 Convertible Notes. An event of default under 
the indenture governing the 2026 Convertible Notes or the fundamental change itself could also lead to a default under 
agreements governing our future indebtedness. If the repayment of any such related indebtedness were to be accelerated 
after any applicable notice or grace periods, we may not have sufficient funds to repay the indebtedness, repurchase the 
2026 Convertible Notes, make interest payments on the 2026 Convertible Notes or make cash payments upon conversions 
of the 2026 Convertible Notes. 

Even if holders of the 2026 Convertible Notes do not elect to convert their 2026 Convertible Notes, we could be required 
to reclassify all of the outstanding principal of the 2026 Convertible Notes as a current rather than long-term liability in 
accordance with applicable accounting rules, which would result in a material reduction of our net working capital. Any 
of these factors could materially and adversely affect our business, financial condition and results of operations. 

Provisions in our corporate charter documents and under Delaware law could make an acquisition of us, which may 
be beneficial to our stockholders, more difficult and may prevent attempts by our stockholders to replace or remove our 
current management. 

Provisions in our corporate charter and our bylaws may discourage, delay or prevent a merger, acquisition or other change 
in control of us that stockholders may consider favorable, including transactions in which our stockholders might otherwise 
receive a premium for their shares. These provisions could also limit the price that investors might be willing to pay in the 
future for shares of our common stock, thereby depressing the market price of our common stock. In addition, because our 
board  of  directors  is  responsible  for  appointing  our  management  team,  these  provisions  may  frustrate  or  prevent  any 
attempts by our stockholders to replace or remove our current management by making it more difficult for stockholders to 
replace members of our board of directors. Among other things, these provisions: 

• 
• 

provide for a classified board of directors such that not all members of the board are elected at one time; 
allow the authorized number of our directors to be changed only by resolution of our board of directors; 

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• 
• 

• 

• 
• 

• 

limit the manner in which stockholders can remove directors from the board; 
establish advance notice requirements for stockholder proposals that can be acted on at stockholder meetings and 
nominations to our board of directors; 
require that stockholder actions must be effected at a duly called stockholder meeting and prohibit actions by our 
stockholders by written consent; 
limit who may call stockholder meetings; 
authorize our board of directors to issue preferred stock without stockholder approval, which could be used to 
institute a “poison pill” that would work to dilute the stock ownership of a potential hostile acquirer, effectively 
preventing acquisitions that have not been approved by our board of directors; and 
require the approval of the holders of at least 75% of the votes that all our stockholders would be entitled to cast 
to amend or repeal certain provisions of our charter or bylaws. 

Moreover, because we are incorporated in Delaware, we are governed by the provisions of Section 203 of the Delaware 
General Corporation Law, which prohibits a person who owns in excess of 15% of our outstanding voting stock from 
merging or combining with us for a period of three years after the date of the transaction in which the person acquired in 
excess of 15% of our outstanding voting stock, unless the merger or combination is approved in a prescribed manner. 

The price of our common stock may be volatile and fluctuate substantially, which could result in substantial losses for 
purchasers of our common stock and lawsuits against us and our officers and directors. 

Our stock price has been and will likely continue to be volatile. The stock market in general and the market for smaller 
pharmaceutical  and  biotechnology  companies  in  particular  have  experienced  extreme  volatility  that  has  often  been 
unrelated to the operating performance of particular companies. As a result of this volatility, our stockholders may not be 
able to sell their common stock at or above the price at which they purchased it. The market price for our common stock 
may be influenced by many factors, including: 

• 

• 

• 

• 
• 

• 

• 

• 
• 
• 

• 
• 
• 
• 

• 
• 

our  ability  to  maintain  our  marketing  authorization  for  Translarna  for  the  treatment  of  nmDMD  in  the  EEA 
following the CHMP’s negative opinion on the conditional marketing authorization following a re-examination 
procedure or identify other potential mechanisms in which we may provide Translarna to nmDMD patients in the 
EEA; 
our ability to maintain the marketing authorization for Translarna and our other products in territories outside of 
the EEA; 
expectations with respect to sepiapterin for the treatment of PKU, including any potential regulatory submissions 
and potential approvals; 
expectations with respect to Upstaza, including any potential regulatory submissions and potential approvals; 
any  developments  related  to  our  ability  or  inability  to  execute  our  commercialization  strategy  for  any  of  our 
products; 
our ability to resolve the matters set forth in the FDA’s denial of our appeal to the Complete Response Letter we 
received from the FDA in connection with our NDA for Translarna for the treatment of nmDMD, and our ability 
to perform additional clinical trials, non-clinical studies or CMC assessments or analyses at significant cost; 
the  commercialization  of  Evrysdi  and  the  development  of  the  SMA  program  with  Roche  and  the  SMA 
Foundation; 
results of clinical trials of any other product candidate that we develop; 
any additional clinical or non-clinical trial required by regulatory agencies for our products or product candidates; 
announcements  by  us  or  our  competitors  of  significant  acquisitions,  licenses,  strategic  collaborations,  joint 
ventures, collaborations or capital commitments; 
negative publicity around our products or product candidates; 
other developments concerning our regulatory submissions; 
the success of competitive products or technologies; 
results of clinical trials of product candidates of our competitors, including negative results that investors may 
associate with our product candidates; 
regulatory or legal developments in the United States and other countries; 
developments or disputes concerning patent applications, issued patents or other proprietary rights; 

109 

• 
• 
• 
• 
• 

our ability to realize the benefits of our acquisitions or other business combinations; 
the recruitment or departure of key personnel; 
the loss of distributors, suppliers or manufacturers; 
the level of expenses related to any of our products, product candidates or clinical development programs; 
actual or anticipated changes in estimates as to financial results, development timelines or recommendations by 
securities analysts; 
variations in our financial results or those of companies that are perceived to be similar to us; 
announcements with respect to litigation; 
changes in the structure of healthcare payment systems; 

• 
• 
• 
•  market conditions in the pharmaceutical and biotechnology sectors; 
• 

general economic, industry and market conditions, including potentially high inflation rates and sustained high 
interest rates; and 
the other factors described in this “Risk Factors” section. 

• 

Companies that have experienced volatility in the market price of their stock have frequently been the subject of securities 
class action and shareholder derivative litigation. For example, in 2018 we settled a securities class action lawsuit initiated 
against us and certain of our current and former executive officers during 2016, as well as derivative lawsuits brought 
against us, as a nominal defendant, certain of our current and former executive officers and certain of our current and 
former directors during 2017. We could be the target of other such litigation in the future. Class action and derivative 
lawsuits, whether successful or not, could result in substantial costs, damage or settlement awards and a diversion of our 
management’s resources and attention from running our business, which could materially harm our reputation, financial 
condition and results of operations. 

Because we do not anticipate paying any cash dividends on our capital in the foreseeable future, capital appreciation, 
if any, will be our stockholders’ sole source of gain. 

We have never declared or paid cash dividends on our capital stock. We currently intend to retain all of our future earnings, 
if any, to finance the development and growth of our business. In addition, the terms of any future debt agreements may 
preclude us from paying dividends. As a result, capital appreciation, if any, of our common stock will be our stockholders’ 
sole source of gain for the foreseeable future. 

The issuance of additional shares of our common stock or the sale of shares of our common stock by our stockholders 
could dilute our stockholders’ ownership interest in the Company and could significantly reduce the market price of 
our common stock. 

Sales of a substantial number of shares of our common stock in the public market could occur at any time. These sales, or 
the perception in the market that the holders of a large number of shares intend to sell shares, could reduce the market 
price of our common stock.  

We have issued a significant number of equity awards under our equity compensation plans or as inducement grants to 
new hire employees pursuant to Nasdaq rules. The shares underlying these awards are registered on a Form S-8 registration 
statement. As a result, upon vesting these shares can be freely exercised and sold in the public market upon issuance, 
subject to volume limitations applicable to affiliates. The exercise of options and the subsequent sale of the underlying 
common stock or the sale of restricted stock upon vesting could cause a decline in our stock price. These sales also might 
make it difficult for us to sell equity securities in the future at a time and at a price that we deem appropriate. 

Certain of our employees, executive officers and directors have entered or may enter into Rule 10b5-1 plans providing for 
sales of shares of our common stock from time to time. Under a Rule 10b5-1 plan, a broker executes trades pursuant to 
parameters established by the employee, director or officer when entering into the plan, without further direction from the 
employee, officer or director. A Rule 10b5-1 plan may be amended or terminated in some circumstances. Our employees, 
executive officers and directors may also buy or sell additional shares outside of a Rule 10b5-1 plan when they are not in 
possession of material, nonpublic information. 

110 

Additionally, certain shares that we issued in connection with our acquisitions or other strategic transactions have not yet 
been sold and are currently restricted as a result of securities laws. These shares may be freely sold in the public market 
subject to any requirements and restrictions, including any applicable volume limitations, imposed by Rule 144 under the 
Securities Act. The sale or resale of these shares in the public market, or the market’s expectation of such sales, may result 
in an immediate and substantial decline in our stock price. Such a decline will adversely affect our investors and also might 
make it difficult for us to sell equity securities in the future at a time and at a price that we deem appropriate. 

Sales of substantial amounts of shares of our common stock or other securities by our stockholders or by us, including 
sales made under our At the Market Offering Sales Agreement with Cantor Fitzgerald and RBC Capital Markets, LLC, 
pursuant to which we may offer and sell shares of our common stock having an aggregate offering price of up to $125 
million from time to time, through the Sales Agent by any method that is deemed to be an “at the market” offering as 
defined  in  Rule  415(a)(4) promulgated  under  the Securities  Act, or  the issuance  of  shares of our  common  stock  upon 
conversion  of  our  outstanding  2026  Convertible  Notes or  any  future  securities  convertible  or  exchangeable  into  our 
common stock or in connection with a strategic transaction or otherwise, could dilute our stockholders, lower the market 
price of our common stock and impair our ability to raise capital through the sale of equity securities. 

Item 1B.   Unresolved Staff Comments 

None. 

Item 1C. Cybersecurity 

Cybersecurity Risk Management and Strategy 

As  is  the  case for  most  companies, we  are  regularly  subject to  cyber-attacks  and  other  cyber  incidents  and,  therefore, 
cybersecurity is an important element of our overall enterprise risk management program. As part of our ordinary course 
of  business,  we  collect,  store  and  transmit  large  amounts  of  confidential  information,  including  personal  information, 
operational and financial transactions and records, clinical trial data and information relating to intellectual property, on 
internal information systems and through the information systems of collaborators and third-party vendors with whom we 
contract. We have a multilayered approach for assessing, identifying and managing cybersecurity risks, that is designed to 
help protect such information from internal and external cyber threats by understanding and seeking to mitigate risk while 
ensuring  business  resiliency.  Our  cybersecurity  prevention  methods  include  implementing  the  National  Institute  of 
Standards and Technology cybersecurity framework, instituting a training and compliance program on cybersecurity for 
all employees, completing a yearly external audit and penetration test, conducting vulnerability scans and remediations 
and monitoring threat intelligence feeds. As part of our overall risk management strategy, we also maintain cyber insurance 
coverage; however, such insurance may not be sufficient in type or amount to cover us against claims related to security 
breaches, cyber-attacks and other related breaches. We also conduct security assessments of all third-party providers before 
engagement  and  maintain  ongoing  monitoring  to  ensure  compliance  with  our  cybersecurity  standards.  This  process 
involves third-party providers responding to cybersecurity questionnaires and information technology, or IT, security team 
meetings  to  review  and  assess  the  third-party  providers  security  posture  to  confirm  that  the  provider  is  ensuring  the 
security, integrity, and availability of processed data.  

We have also established a global incident response management standard operating procedure, or GIRM. Our GIRM 
provides step-by-step instructions for managing any global incident which is disruptive of or interferes with the delivery 
and  operation  of  our  IT  services  and  systems  that  are  in  use.  Specifically,  the  GIRM  provides  direction  as  to  how 
information with respect to a cybersecurity incident is communicated internally, including with our executive committee 
leadership team. As regulatory disclosure requirements regarding cybersecurity incidents and data privacy matters have 
become more prevalent, we have developed an incident workflow designed to monitor and evaluate if such disclosure 
requirements are triggered by an incident through the inclusion of members of our legal, data privacy and executive teams 
in the incident response process. 

We  engage  third  parties,  including  independent  privacy  assessors,  computer  security  firms  and  risk  management  and 
governance experts to enhance our cybersecurity oversight. For example, on an annual basis we run a penetration test of 

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our systems, performed by a different external third party each year. We also regularly consult with these third parties on 
emerging industry trends. 

We  do  not  believe  that  there  are  currently  any  known  risks  from  cybersecurity  threats  that  are  reasonably  likely  to 
materially affect the company or its business strategy, results of operations or financial conditions. 

Cybersecurity Governance and Oversight 

Our Board of Directors administers its cybersecurity risk oversight function primarily through the Audit Committee of the 
Board of Directors. In accordance with our Audit Committee Charter, our Chief Information Officer, or CIO, provides 
periodic  updates  to  our  Audit  Committee  regarding  the  Company’s  cybersecurity  and  other  technology  risks,  internal 
controls and procedures, including the Company’s plan to mitigate cybersecurity risk and respond to data breaches. The 
Audit Committee is also responsible for reviewing any related periodic public filing disclosures. The Board of Directors 
receives regular reports from the Audit Committee. Our CIO also presents directly to our Board of Directors on an annual 
basis  on  these  matters.  Our  IT  team  is  responsible  for  maintaining  daily  operations  and  ensuring  the  confidentiality, 
integrity and availability of data. Our CIO oversees a cybersecurity team that has over 15 years’ experience in cybersecurity 
along with advanced and undergrad degrees in cybersecurity, and industry recognized security certifications such as CISSP 
(Certified  Information  Systems  Security  Professional)  and  CISM  (Certified  Information  Security  Manager).  Our  CIO 
reports directly to our Chief Legal Officer, who is a member of our executive committee leadership team. Cybersecurity 
incident status updates are provided as necessary to the executive committee as set forth in our GIRM. In the event of a 
cybersecurity incident, our IT team is trained to follow our GIRM.  

In an effort to deter and detect cyber threats, we periodically provide all employees, including part-time and temporary 
employees, with data protection,  cybersecurity  and  incident response  and prevention  training  as part of  our overall IT 
compliance program, which covers timely and relevant topics, including social engineering, phishing, password protection, 
confidential data protection, asset use and mobile security,  and educates employees on the importance of reporting all 
incidents immediately. We also use technology-based tools to mitigate cybersecurity risks and to bolster our employee-
based cybersecurity programs.  

For more information regarding the risks associated our cybersecurity program, see Item 1A. Risk Factors, “Our business 
and  operations  would  suffer  in  the  event  of  computer  system  failures,  cyber-attacks  or  a  deficiency  in  our,  or  our 
collaborators’ or third-party vendors’, cyber-security.” 

Item 2.   Properties 

Our principal facilities consist of approximately 126,000 square feet of research and office space located at 100, 200, 250 
and 400 Corporate Court, Middlesex Business Center, South Plainfield, New Jersey, that we occupy under leases that 
expire  in  August  2024. We  also  lease  two  entire  buildings  comprised  of  approximately  360,000  square  feet  of  shell 
condition, modifiable space at a facility located in Warren, New Jersey which we intend to make our corporate headquarters 
in 2024. The rental term for such facility commenced on June 1, 2022, with an initial term of seventeen years followed by 
three  consecutive  five-year  renewal  periods  at  our  option.  Additionally,  we  entered  into  a  lease  agreement  for 
approximately 103,000 square feet of laboratory and office space in Bridgewater, New Jersey.  The rental term for such 
facility commenced on May 1, 2020 with an initial term of seven years and two consecutive five year renewal periods at 
our  option.  We  entered  into  a  lease  agreement  for  approximately  220,500  square  feet  of  office,  manufacturing  and 
laboratory space at a facility located in Hopewell Township, New Jersey. The rental term for such facility commenced on 
July 1, 2020, with an initial term of fifteen years and two consecutive 10-year renewal periods at our option. We lease 
approximately 6,500 square feet of office space in Dublin, Ireland, that we occupy under a lease that expires in 2024. 
Additionally, we lease approximately 5,000 square feet of office space in Sao Paulo, Brazil, that we occupy under a lease 
that expires in 2024. We also lease additional office space in the U.S. and other countries to support our operations as a 
global organization, but these leases are not material to us. 

112 

Item 3.   Legal Proceedings 

From time to time in the ordinary course of our business, we are subject to claims, legal proceedings and disputes. We are 
not currently aware of any material legal proceedings which we are a party to or of which any of our property is the subject. 

Item 4.   Mine Safety Disclosures 

None. 

113 

 
 
PART II 

Item 5.   Market for Registrant’s Common Equity, Related Stockholder Matters and Issuers Purchases of Equity 
Securities 

Market Information 

Our common stock has been publicly traded on the Nasdaq Global Select Market under the symbol “PTCT” since June 20, 
2013. Prior to that time, there was no public market for our common stock. 

Holders 

As of February 27, 2024, there were 98 holders of record of our common stock. This number does not include beneficial 
owners whose shares are held in street name. 

Recent Sales of Unregistered Securities 

We did not sell any of our equity securities or any options, warrants, or rights to purchase our equity securities during the 
period covered by this Annual Report on Form 10-K that were not registered under the Securities Act of 1933, as amended, 
or the Securities Act, and that have not otherwise been described in a Current Report on Form 8-K or a Quarterly Report 
on Form 10-Q. 

Purchase of Equity Securities 

We did not purchase any of our registered equity securities during the period covered by this Annual Report on Form 10-K. 

Item 6.   [Reserved] 

Item 7.   Management’s Discussion and Analysis of Financial Condition and Results of Operations. 

The  following  discussion  and  analysis  is  meant  to  provide  material  information  relevant  to  an  assessment  of  the 
financial condition and results of operations of our company, including an evaluation of the amounts and certainty of cash 
flows from operations and from outside resources, so as to allow investors to better view our company from management’s 
perspective. The following discussion of our financial condition and results of operations should be read in conjunction 
with our financial statements and the notes to those financial statements appearing elsewhere in this Annual Report on 
Form 10-K.  This  discussion  contains  forward-looking  statements  that  involve  significant  risks  and  uncertainties.  As  a 
result of many factors, such as those set forth in Part I, Item 1A. Risk Factors, of this Annual Report on Form 10-K, our 
actual results may differ materially from those anticipated in these forward-looking statements. 

We  are  a  global  biopharmaceutical  company  focused  on  the  discovery,  development  and  commercialization  of 
clinically differentiated medicines that provide benefits to patients with rare disorders. Our ability to innovate to identify 
new therapies and to globally commercialize products is the foundation that drives investment in a robust and diversified 
pipeline of transformative medicines. Our mission is to provide access to best-in-class treatments for patients who have 
little to no treatment options. Our strategy is to leverage our strong scientific and clinical expertise and global commercial 
infrastructure to bring therapies to patients.  We believe that this allows us to maximize value for all of our stakeholders. 
We have a diversified therapeutic portfolio that includes several commercial products and product candidates in various 
stages of development, including clinical, pre-clinical and research and discovery stages, focused on the development of 
new treatments for multiple therapeutic areas for rare diseases relating to neurology and metabolism. 

We have two products, TranslarnaTM (ataluren) and Emflaza® (deflazacort), for the treatment of Duchenne muscular 
dystrophy, or DMD, a rare, life threatening disorder. Translarna currently has conditional marketing authorization in the 
European Economic Area, or EEA, for the treatment of nonsense mutation Duchenne muscular dystrophy, or nmDMD, in 
ambulatory patients aged two years and older. Translarna also has marketing authorization in Russia for the treatment of 

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nmDMD in patients aged two years and older, and in Brazil for the treatment of nmDMD in ambulatory patients two years 
and older and for continued treatment of patients that become non-ambulatory, as well as in various other countries. During 
the year  ended  December 31, 2023,  we  recognized  $355.8  million  in  sales  of  Translarna.  We  hold  worldwide 
commercialization rights to Translarna for all indications in all territories. Emflaza is approved in the United States for the 
treatment of DMD in patients two years and older. During the year ended December 31, 2023, Emflaza achieved net sales 
of $255.1 million. 

Our  marketing  authorization  for  Translarna  in  the  EEA  is  subject  to  annual  review  and  renewal  by  the  European 
Commission, or EC, following reassessment by the European Medicines Agency, or EMA, of the benefit-risk balance of 
the authorization, which we refer to as the annual EMA reassessment. In September 2022, we submitted a Type II variation 
to  the  EMA  to  support  conversion  of  the  conditional  marketing  authorization  for  Translarna  to  a  standard  marketing 
authorization, which included a report on the placebo-controlled trial of Study 041 and data from the open-label extension 
as further described below. Study 041 was an 18-month, placebo-controlled trial, followed by an 18-month open-label 
extension of Translarna in the treatment of ambulatory patients with nmDMD aged five years or older. In February 2023, 
we also submitted an annual marketing authorization renewal request to the EMA. In September 2023, the Committee for 
Medicinal Products for Human Use, or CHMP, gave a negative opinion on the conversion of the conditional marketing 
authorization to full marketing authorization of Translarna for the treatment of nmDMD and a negative opinion on the 
renewal of the existing conditional marketing authorization of Translarna for the treatment of nmDMD. On January 25, 
2024,  the  CHMP  issued  a negative opinion for  the renewal of  the  conditional marketing  authorization  following a  re-
examination procedure. In accordance with EMA regulations, the EC has 67 days to adopt the opinion. If the EC adopts 
the negative opinion, Translarna would no longer have marketing authorization in the member states of the EEA. We are 
exploring other potential mechanisms in which we may provide Translarna to nmDMD patients in the EEA if the negative 
opinion is adopted by the EC. 

Each country, including each member state of the EEA, has its own pricing and reimbursement regulations. In order 
to commence commercial sale of product pursuant to our Translarna marketing authorization in any particular country in 
the EEA, we must finalize pricing and reimbursement negotiations with the applicable government body in such country. 
As a result, our commercial launch will continue to be on a country-by-country basis. We also have made, and expect to 
continue to make, product available under early access programs, or EAP programs, or similar styled programs both in 
countries in the EEA and other territories. Our ability to negotiate, secure and maintain reimbursement for product under 
commercial and EAP programs can be subject to challenge in any particular country and can also be affected by political, 
economic and regulatory developments in such country. 

There is substantial risk that if the EC adopts the CHMP’s negative opinion, or we are otherwise unable to renew our 
EEA marketing authorization during any annual renewal cycle, or we are unable to identify other potential mechanisms in 
which we may provide Translarna to nmDMD patients in the EEA should the EC adopts the CHMP’s negative opinion or 
our product label is materially restricted, we would lose all, or a significant portion of, our ability to generate revenue from 
sales of Translarna in the EEA and other territories. For more information regarding the risks associated with the a potential 
EC adoption of the CHMP’s negative opinion on Translarna’s marketing authorization, see Item 1A. Risk Factors, “We 
may  be  unable  to  continue  to  commercialize  Translarna  for  nonsense  mutation  Duchenne  muscular  dystrophy  in  the 
European Economic Area if the European Commission adopts the negative opinion issued by the Committee for Medicinal 
Products for Human Use of the European Medicines Agency for the renewal of the existing conditional authorization for 
Translarna.” 

Translarna is an investigational new drug in the United States. During the first quarter of 2017, we filed a New Drug 
Application, or NDA, for Translarna for the treatment of nmDMD over protest with the United States Food and Drug 
Administration, or FDA. In October 2017, the Office of Drug Evaluation I of the FDA issued a Complete Response Letter 
for the NDA, stating that it was unable to approve the application in its current form. In response, we filed a formal dispute 
resolution request with the Office of New Drugs of the FDA. In February 2018, the Office of New Drugs of the FDA 
denied our appeal of the Complete Response Letter. In its response, the Office of New Drugs recommended a possible 
path  forward  for  the  ataluren  NDA  submission  based  on  the  accelerated  approval  pathway.  This  would  involve  a  re-
submission of an NDA containing the current data on effectiveness of ataluren with new data to be generated on dystrophin 
production  in  nmDMD  patients’  muscles.  We  followed  the  FDA’s  recommendation  and  collected,  using  newer 
technologies via procedures and methods that we designed, such dystrophin data in a new study, Study 045, and announced 

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the results of Study 045 in February 2021. Study 045 did not meet its pre-specified primary endpoint. In June 2022, we 
announced top-line results from the placebo-controlled trial of Study 041. Following this announcement, we submitted a 
meeting  request  to  the  FDA  to  gain  clarity  on  the  regulatory  pathway  for  a  potential  re-submission  of  an  NDA  for 
Translarna.  The  FDA  provided  initial  written  feedback  that  Study  041  does  not  provide  substantial  evidence  of 
effectiveness to support NDA re-submission. We held a Type C meeting with the FDA in the fourth quarter of 2023 to 
discuss the totality of Translarna data. Based on this discussion, the FDA suggested we request a pre-submission Type C 
meeting  to  discuss  the  specific  contents  of  an  NDA  resubmission  based  on  results  from  Study  041  and  from  our 
international drug registry study for nmDMD patients receiving Translarna. This meeting is scheduled for March 2024. 

We have previously relied on Emflaza’s seven-year marketing exclusivity period in the United States for its approved 
indications under the provisions of the Orphan Drug Act of 1983, or the Orphan Drug Act, when commercializing Emflaza. 
Emflaza’s seven-year period of orphan drug exclusivity related to the treatment of DMD in patients five years and older 
expired in February 2024. We expect the expiration of this orphan drug exclusivity to have a significant negative impact 
on Emflaza net product revenue. Emflaza’s orphan drug exclusivity related to the treatment of DMD in patients two years 
of age to less than five expires in June 2026. 

Upstaza is a gene therapy for the treatment of Aromatic L Amino Decarboxylase, or AADC, deficiency, a rare central 
nervous system, or CNS, disorder arising from reductions in the enzyme AADC that results from mutations in the dopa 
decarboxylase gene. In July 2022, the EC approved Upstaza for the treatment of AADC deficiency for patients 18 months 
and  older  within  the  EEA.  In  November  2022,  the  Medicines  and  Healthcare  products  Regulatory  Agency  approved 
Upstaza for the treatment of AADC deficiency for patients 18 months and older within the United Kingdom. We are also 
preparing a biologics license application, or BLA, for Upstaza for the treatment of AADC deficiency in the United States. 
In October 2022, we held a Type C meeting with the FDA to discuss the details of a potential submission package for 
Upstaza. At that meeting, the FDA asked for additional bioanalytical data in support of comparability between the drug 
product used in the clinical studies and the commercial drug product. We completed these analyses and provided the results 
to the FDA for review. The FDA stated that the data that we provided were still not sufficient. However, the FDA also 
said that the available data from the ongoing clinical study in the United States assessing the safety of the drug delivery 
cannula for Upstaza could be used to support a BLA for accelerated approval based on biomarker data demonstrating a 
treatment-related  increase  in  de  novo  dopamine  production.  At  the  FDA’s  suggestion,  we  held  a  pre-BLA  meeting  in 
December 2023. We expect to submit a BLA to the FDA for Upstaza for the treatment of AADC deficiency in March 
2024. 

We hold the rights for the commercialization of Tegsedi and Waylivra for the treatment of rare diseases in countries 
in  Latin  America  and  the  Caribbean  pursuant  to  a  Collaboration  and  License  Agreement,  or  the  Tegsedi-Waylivra 
Agreement,  dated  August  1,  2018,  by  and  between  us  and  Akcea  Therapeutics,  Inc.,  or  Akcea,  a  subsidiary  of  Ionis 
Pharmaceuticals, Inc. Tegsedi has received marketing authorization in the United States, European Union, or EU, and 
Brazil for the treatment of stage 1 or stage 2 polyneuropathy in adult patients with hereditary transthyretin amyloidosis, or 
hATTR amyloidosis. In August 2021, ANVISA, the Brazilian health regulatory authority, approved Waylivra as the first 
treatment for familial chylomicronemia syndrome, or FCS, in Brazil. In December 2022, ANVISA approved Waylivra for 
the treatment of familial partial lipodystrophy, or FPL. Waylivra has also received marketing authorization in the EU for 
the treatment of FCS. 

We also have a spinal muscular atrophy, or SMA, collaboration with F. Hoffman La Roche Ltd. and Hoffman La 
Roche inc., which we refer to collectively as Roche, and the Spinal Muscular Atrophy Foundation, or SMA Foundation. 
The SMA program has one approved product, Evrysdi® (risdiplam), which was approved by the FDA in August 2020 for 
the treatment of SMA in adults and children two months and older and by the EC in March 2021 for the treatment of 5q 
SMA in patients two months and older with a clinical diagnosis of SMA Type 1, Type 2 or Type 3 or with one to four 
SMN2 copies. Evrysdi has also received marketing authorization for the treatment of SMA in over 100 countries. In May 
2022, the FDA approved a label expansion for Evrysdi to include infants under two months old with SMA. In August 
2023, the EC approved an extension of the Evrysdi marketing authorization to include infants under two months old in the 
EU. 

One  of  our  most  advanced  clinical  stage  molecules  is  sepiapterin.  Sepiapterin  is  a  precursor  to  intracellular 
tetrahydrobiopterin, which is a critical enzymatic cofactor involved in metabolism and synthesis of numerous metabolic 

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products, for orphan diseases. In May 2023, we announced that the primary endpoint was achieved in our registration-
directed Phase 3 trial for sepiapterin for phenylketonuria, or PKU. The primary endpoint of the study was the achievement 
of statistically-significant reduction in blood Phe level. The primary analysis population included those patients who have 
a greater than 30% reduction in blood Phe levels during the Part 1 run-in phase of the trial. Sepiapterin demonstrated Phe 
level reduction of approximately 63% in the overall primary analysis population and Phe level reduction of approximately 
69% in the subset for classical PKU patients. Additionally, sepiapterin was well tolerated with no serious adverse events. 
Following  the  placebo-controlled  study,  patients  were  eligible  to  enroll  in  a  long-term  open-label  study,  which  is  still 
ongoing and will evaluate long-term safety, durability and Phe tolerance. We expect to submit a marketing authorization 
application, or MAA, to the EMA for sepiapterin for the treatment of PKU in the EEA in March 2024. Additionally, we 
participated in a pre-NDA meeting with the FDA in the third quarter of 2023. At that meeting, the FDA stated that the 
sepiapterin  clinical  safety  and  efficacy  data  supported  NDA  submission  for  the  treatment  of  pediatric  and  adult  PKU 
patients.  However,  the  FDA  has  requested  that  we  complete  a  26-week  nonclinical  mouse  study  to  assess  sepiapterin 
carcinogenicity potential prior to NDA submission. This nonclinical study was not initially required when we acquired 
sepiapterin, as the NDA submission was planned under the Section 505(b)(2) pathway. Given that sepiapterin is a novel 
therapy with distinct pharmacology, biodistribution, mechanism of action and differentiated efficacy, we subsequently 
decided to make the NDA submission under the Section 505(b)(1) pathway, which requires the 26-week study, which is 
considered a required NDA component needed to inform labeling and is typically completed prior to submission. Based 
on the timing to complete this study, we expect to submit an NDA to the FDA for sepiapterin for the treatment of PKU no 
later than the third quarter of 2024 and we intend to discuss with the FDA the potential for an earlier submission if we are 
permitted to submit the 26-week mouse study report during the NDA review process.  

In  addition  to  our  SMA  program,  our  splicing  platform  also  includes  PTC518,  which  is  being  developed  for  the 
treatment  of  Huntington’s  disease,  or  HD.  We  announced  the  results  from  our  Phase  1  study  of  PTC518  in  healthy 
volunteers  in  September  2021  demonstrating  dose-dependent  lowering  of  huntingtin  messenger  ribonucleic  acid  and 
protein levels, that PTC518 efficiently crosses blood brain barrier at significant levels and that PTC518 was well tolerated.  
We initiated a Phase 2 study of PTC518 for the treatment of HD in the first quarter of 2022, which consists of an initial 
12-week placebo-controlled phase focused on safety, pharmacology and pharmacodynamic effects followed by a nine-
month placebo-controlled phase focused on PTC518 biomarker effect. In June 2023, we announced interim data from the 
12-week placebo-controlled phase. The study demonstrated dose-dependent lowering of Huntingtin, or HTT, protein levels 
in peripheral blood cells, reaching an approximate mean 30% reduction in mutant HTT levels at the 10mg dose level. In 
addition,  PTC518  exposure  in  the  cerebrospinal fluid was  consistent with or higher  than plasma unbound drug  levels. 
Furthermore, PTC518 was well tolerated with no treatment-related serious adverse events. The Phase 2 study is actively 
ongoing outside the United States, while it has been paused within the United States as the FDA requested additional data 
to allow the Phase 2 study to proceed. We expect to provide 12-month interim data from the Phase 2 study of PTC518 for 
the treatment of HD in the second quarter of 2024. We expect to submit a safety data update to the FDA in the second 
quarter of 2024 to support lifting of the partial clinical hold on the program.  

Our ferroptosis and inflammation platform consists of small molecule compounds that target oxidoreductase enzymes 
that regulate oxidative stress and inflammatory pathways central to the pathology of a number of CNS diseases. The two 
most advanced molecules in our ferroptosis and inflammation platform are vatiquinone and utreloxastat.  We announced 
topline results from a registration-directed Phase 3 trial of vatiquinone in children and young adults with Friedreich ataxia, 
called MOVE-FA, in May 2023. While the study did not meet its primary endpoint of statistically significant change in 
modified Friedreich Ataxia Rating Scale, or mFARS, score at 72 weeks in the primary analysis population, vatiquinone 
treatment  did  demonstrate  significant  benefit  on  key  disease  subscales  and  secondary  endpoints.  In  addition,  in  the 
population of subjects that completed the study protocol, significance was reached in the mFARS endpoint and several 
secondary  endpoints,  including  the upright  stability  subscale.  Furthermore, vatiquinone was well  tolerated. In  the first 
quarter of 2024, we met with the FDA, who expressed willingness to review an NDA for vatiquinone for the treatment of 
Friedreich ataxia based on the MOVE-FA trial as well as data from the ongoing open label extension study following the 
MOVE-FA trial, potentially allowing for the submission of an NDA in late 2024. In the first quarter of 2024, we also 
received scientific advice from the EMA on the MOVE-FA trial results, in which the EMA stated that the MOVE-FA data 
would likely not be sufficient for conditional authorization. In the third quarter of 2021, we completed a Phase 1 trial in 
healthy volunteers to evaluate the safety and pharmacology of utreloxastat. Utreloxastat was found to be well-tolerated 
with no reported serious adverse events while demonstrating predictable pharmacology. We initiated a Phase 2 registration 

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directed trial of utreloxastat for amyotrophic lateral sclerosis, or ALS, in the first quarter of 2022. We expect topline results 
from this trial in the fourth quarter of 2024. 

In addition, we have a pipeline of product candidates and discovery programs that are in early clinical, pre-clinical 
and research and development stages focused on the development of new treatments for multiple therapeutic areas for rare 
diseases. 

In May 2023 and September 2023, we announced strategic pipeline prioritizations following reviews of our portfolio.  
In  connection  with  the  strategic  pipeline  prioritizations,  we  reduced  our  workforce  by  32%,  which  primarily  affected 
employees  in  the  United  States,  including  those  employees  involved  in  early-stage  research  and  gene  therapy 
manufacturing and associated selling, general and administrative functions. We substantially completed the reduction in 
workforce  in  January  2024.  We  also  decided  to  discontinue  our  preclinical  and  early  research  programs  for  our  gene 
therapy  platform,  which  included  programs  for  Friedreich  ataxia  and  Angelman  syndrome,  as  well  as  our  oncology 
platform, which included programs for unesbulin for the treatment of diffuse intrinsic pontine glioma and leiomyosarcoma. 

Overview—Funding 

The success of our products and any other product candidates we may develop, depends largely on obtaining and 
maintaining  reimbursement  from  governments  and  third-party  insurers.  During  2023,  our  revenues  were  primarily 
generated from sales of Translarna for the treatment of nmDMD in countries where we were able to obtain acceptable 
commercial pricing and reimbursement terms and in select countries where we are permitted to distribute Translarna under 
our EAP programs or through similar styled programs, and from sales of Emflaza for the treatment of DMD in the United 
States. We  also  generated  revenue  from  sales of Upstaza for  the  treatment of AADC  deficiency  in  the  EEA  and have 
recognized revenue associated with milestone and royalty payments from Roche pursuant to a License and Collaboration 
Agreement, or the SMA License Agreement, by and among us, Roche and, for the limited purposes set forth therein, the 
SMA Foundation, under our SMA program. 

See  “Item 1. Business—Commercial  Matters—Market  Access  Considerations”  for  additional  information  and 
“Item 1A. Risk Factors—Commercialization of Translarna and Upstaza has been in, and is expected to continue to take 
place in, countries that tend to impose strict price controls, which may adversely affect our revenues. Failure to obtain 
and maintain acceptable pricing and reimbursement terms for Translarna for the treatment of nmDMD or Upstaza for the 
treatment of AADC deficiency in the EEA and other countries where Translarna is available would delay or prevent us 
from marketing our product in such regions, which would adversely affect our business, results of operations, and financial 
condition.” 

In August 2019, we entered into an At the Market Offering Sales Agreement, or the Sales Agreement, with Cantor 
Fitzgerald and RBC Capital Markets, LLC, or together, the Sales Agents, pursuant to which, we may offer and sell shares 
of our common stock, having an aggregate offering price of up to $125.0 million from time to time through the Sales 
Agents by any method that is deemed to be an “at the market offering” as defined in Rule 415(a)(4) promulgated under 
the Securities Act of 1933, as amended, or the Securities Act. We did not issue or sell any shares of common stock pursuant 
to the Sales Agreement during the years ending December 31, 2023, 2022, and 2021. The remaining shares of our common 
stock available to be issued and sold, under the Sales Agreement, have an aggregate offering price of up to $93.0 million 
as of December 31, 2023. 

In  September 2019,  we  issued  $287.5  million  aggregate  principal  amount  of  1.50%  convertible  senior  notes  due 
September 15, 2026, or the 2026 Convertible Notes, which included an option to purchase up to an additional $37.5 million 
in aggregate principal amount of the 2026 Convertible Notes, which was exercised in full by the initial purchasers. We 
received net proceeds of $279.3 million after deducting the initial purchasers’ discounts and commissions and the offering 
expenses  payable  by  us.  See  “Item  7.  Management’s  Discussion  and  Analysis  of  Financial  Condition  and  Results  of 
Operations—Liquidity and capital resources—Sources of Liquidity” for additional information. 

In July 2020, we entered into a Royalty Purchase Agreement, or the Original Royalty Purchase Agreement, with RPI 
Intermediate Finance Trust, or RPI, and, for the limited purposes set forth in the agreement, Royalty Pharma plc. Pursuant 
to the Original Royalty Purchase Agreement, we sold to RPI 42.933%, or the Original Assigned Royalty Rights, of the 

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Royalty (as defined below) for $650.0 million. At that time, we retained a 57.067% interest in the Royalty and all economic 
rights to receive the remaining potential regulatory and sales milestone payments under the SMA License Agreement.  

In June 2021, we filed a Certificate of Amendment to our Restated Certificate of Incorporation, which increased the 

number of authorized shares of our common stock from 125,000,000 to 250,000,000 shares. 

In October 2022, we entered into the Credit Agreement, dated October 27, 2022, by and among us and certain of our 
subsidiaries  from  time  to  time  party  thereto,  as  guarantors,  or,  collectively  with  us,  the  Loan  Parties,  funds  and  other 
affiliated entities advised or managed by Blackstone Life Sciences and Blackstone Credit, or collectively, Blackstone, as 
lenders,  together  with  their  permitted  assignees,  the  Lenders,  and  Wilmington  Trust,  National  Association,  as  the 
administrative agent for the Lenders, or the Blackstone Credit Agreement. The Blackstone Credit Agreement provided for 
fundings of up to $950.0 million consisting of a committed loan facility consisting of a senior secured term loan facility 
funded on October 27, 2022, or the Closing Date, in the aggregate principal amount of $300.0 million, and a delayed draw 
term loan facility of up to $150.0 million to be funded at our request within 18 months of the Closing Date subject to 
specified conditions, and further contemplating the potential for up to $500.0 million of additional financing, to the extent 
that we requested such additional financing and subject to the Lenders’ agreement to provide such additional financing 
and to mutual agreement on terms. In October 2023, we terminated the Blackstone Credit Agreement. In connection with 
the termination of the Blackstone Credit Agreement, we repaid outstanding principal of $300.0 million, accrued interest 
of $2.1 million, an additional $82.0 million in prepayment premiums, exit fees, and creditor expenses, and $0.2 million in 
legal  fees.  We  recorded  a  loss  on  the  extinguishment  of  debt  of  $92.7  million  which  is  included  on  the  statement  of 
operations for the period ended December 31, 2023. The loss on extinguishment of debt consisted of $82.0 million in 
prepayment premiums, exit fees, and creditor expenses and debt issuance costs of $10.7 million. All liens and security 
interests securing the loans made pursuant to the Blackstone Credit Agreement were released upon termination. 

In  October  2023,  we  entered  into  an  Amended  and  Restated  Royalty  Purchase  Agreement,  or  the  A&R  Royalty 
Purchase Agreement, with Royalty Pharma Investments 2019 ICAV, or Royalty Pharma, and, for the limited purposes set 
forth  in  the  agreement,  Royalty  Pharma  plc  which  amends  and  restates  in  its  entirety  the  Original  Royalty  Purchase 
Agreement.  Pursuant to the A&R Royalty Purchase Agreement, we have sold or agreed to sell to Royalty Pharma certain 
portions of our remaining retained right, title and interest in and to our right to receive sales-based royalty payments, or 
the Royalty, on worldwide net sales of Evrysdi and any other product developed pursuant to the SMA License Agreement 
under the SMA program (all such Royalty rights retained by us, are referred to as the Retained Royalty Rights, and all 
such Royalty rights that are sold to Royalty Pharma pursuant to the A&R Royalty Purchase Agreement, are referred to as 
the A&R Assigned Royalty Rights).  At closing, Royalty Pharma paid us $1.0 billion in cash consideration for 38.0447% 
of our Retained Royalty Rights (which is in addition to the 42.9330% assigned to Royalty Pharma in connection with the 
Original Royalty Purchase Agreement and referred to as the Original Assigned Royalty Rights, for a total of 80.9777% of 
the total Royalty) until such time as Royalty Pharma has received payments in respect of the Original Assigned Royalty 
Rights equal to $1.3 billion in the aggregate, and thereafter 66.6667% of the total Royalty. See “Item 7. Management’s 
Discussion and Analysis of Financial Condition and Results of Operations—Liquidity and capital resources—Sources of 
Liquidity” for additional information. 

We have financed our operations to date primarily through the private offerings of convertible senior notes, public 
and  “at  the  market  offerings”  of  common  stock,  proceeds  from  royalty  purchase  agreements,  net  proceeds  from  our 
borrowings  under  our  credit  agreement  with  Blackstone,  private  placements  of  our  convertible  preferred  stock  and 
common stock, collaborations, bank and institutional lender debt, other convertible debt, grant funding and clinical trial 
support from governmental and philanthropic organizations and patient advocacy groups in the disease area addressed by 
our product candidates. We have relied on revenue generated from net sales of Translarna for the treatment of nmDMD in 
territories outside of the United States since 2014, Emflaza for the treatment of DMD in the United States since 2017 and 
Upstaza for the treatment of AADC deficiency in the EEA since 2022. We have also relied on revenue associated with 
milestone and royalty payments from Roche pursuant to the SMA License Agreement, under our SMA program. 

As of December 31, 2023, we had an accumulated deficit of $3,283.6 million. We had a net loss of $626.6 million, 

$559.0 million, and $523.9 million for the fiscal years ended December 31, 2023, 2022, and 2021, respectively. 

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We anticipate that we will continue to incur significant expenses in connection with our commercialization efforts in 
the United States, the EEA, Latin America and other territories, including expenses related to our commercial infrastructure 
and corresponding sales and marketing, legal and regulatory, and distribution and manufacturing undertakings as well as 
administrative and employee-based expenses. In addition to the foregoing, we expect to continue to incur significant costs 
in connection with ongoing, planned and potential future clinical trials and studies for sepiapterin and our splicing and 
ferroptosis and inflammation programs as well as studies in our products for maintaining authorizations, label extensions 
and additional indications. We continue to seek marketing authorization for Translarna for the treatment of nmDMD in 
territories that we do not currently have marketing authorization in and we are exploring other potential mechanisms in 
which we may provide Translarna to nmDMD patients in the EEA if the EC adopts the CHMP’s negative opinion for 
Translarna  following  a  re-examination  procedure.  We  anticipate  submitting  a  BLA  to  the  FDA  for  Upstaza  for  the 
treatment of AADC deficiency in the United States in March 2024. We also expect to submit an MAA to the EMA for 
sepiapterin for the treatment of PKU in March 2024 and we expect to submit an NDA to the FDA for sepiapterin for the 
treatment of PKU no later than the third quarter of 2024. These efforts may significantly impact the timing and extent of 
our commercialization and manufacturing expenses.  

We may seek to expand and diversify our product pipeline through opportunistically in-licensing or acquiring the 
rights to products, product candidates or technologies and we may incur expenses, including with respect to transaction 
costs, subsequent development costs or any upfront, milestone or other payments or other financial obligations associated 
with any such transaction, which would increase our future capital requirements. 

With respect to our outstanding 2026 Convertible Notes, cash interest payments are payable on a semi-annual basis 
in arrears, which will require total funding of $4.3 million annually. Borrowings under the Blackstone Credit Agreement, 
which was terminated in October 2023, bore interest at a variable rate equal to, at our option, either an adjusted Term 
SOFR rate plus seven and a quarter percent (7.25%) or the Base Rate plus six and a quarter percent (6.25%), subject to a 
floor of one percent (1%) and two percent (2%) with respect to Term SOFR rate and Base Rate (each as defined in the 
Blackstone Credit Agreement), respectively. 

In February 2023, we completed enrollment of our Phase 3 placebo-controlled clinical trial for sepiapterin for PKU.  
In connection with this event and pursuant to the Censa Merger Agreement, we paid a $30.0 million development milestone 
to the former Censa securityholders during the year ended December 31, 2023. We elected to pay this milestone in the 
form of shares of our common stock, less certain cash payments in accordance with the Censa Merger Agreement. Pursuant 
to such election, we issued 657,462 shares of our common stock and paid $0.4 million to the former Censa securityholders. 

We expect to make additional payments to the former Censa securityholders of $65.0 million in the aggregate in cash 
upon the potential achievement in 2024 of certain regulatory milestones relating to sepiapterin. Furthermore, we expect to 
pay the former equityholders of Agilis Biotherapeutics, Inc., or Agilis, $20.0 million in development milestone payments 
upon the acceptance for filing by the FDA of a BLA for Upstaza for the treatment of AADC deficiency and $4.5 million 
in regulatory milestone payments upon the approval of the BLA from the FDA pursuant to the Agreement and Plan of 
Merger, dated as of July 19, 2018, or the Agilis Merger Agreement, by and among us, Agility Merger Sub, Inc., a Delaware 
corporation and our wholly owned, indirect subsidiary, Agilis and, solely in its capacity as the representative, agent and 
attorney-in-fact of the equityholders of Agilis, Shareholder Representative Services LLC. We anticipate submitting a BLA 
to the FDA for Upstaza for the treatment of AADC deficiency in the United States in March 2024.  

We have never been profitable and we will need to generate significant revenues to achieve and sustain profitability, 
and  we  may  never  do  so.  Accordingly,  we  may  need  to  obtain  substantial  additional  funding  in  connection  with  our 
continuing operations. Adequate additional financing may not be available to us on acceptable terms, or at all. If we are 
unable to raise capital when needed or on attractive terms, we could be forced to delay, reduce or eliminate our research 
and development programs or our commercialization efforts. 

120 

Financial operations overview 

Revenues 

To date, our net product revenues have consisted primarily of sales of Translarna for the treatment of nmDMD in 
territories outside of the United States, and sales of Emflaza for the treatment of DMD in the United States. Our process 
for recognizing revenue is described below under “Critical accounting policies and significant judgments and estimates—
Revenue recognition”.  

Roche and the SMA Foundation Collaboration.   In November 2011, we entered into the SMA License Agreement 
pursuant  to  which  we  are  collaborating  with  Roche  and  the  SMA  Foundation  to  further  develop  and  commercialize 
compounds identified under our SMA program with the SMA Foundation. The research component of this agreement 
terminated effective December 31, 2014. We are eligible to receive additional payments from Roche if specified events 
are achieved with respect to each licensed product, including up to $135.0 million in research and development event 
milestones, up to $325.0 million in sales milestones upon achievement of specified sales events, and up to double digit 
royalties on worldwide annual net sales of a commercial product.  As of December 31, 2023, we had recognized a total of 
$310.0 million in milestone payments and $341.8 million royalties on net sales pursuant to the SMA License Agreement. 
As of December 31, 2023, there are no remaining research and development event milestones that we can receive. The 
remaining potential sales milestones as of December 31, 2023 are $150.0 million upon achievement of certain sales events.  

In July 2020, we entered into the Original Royalty Purchase Agreement. Pursuant to the Original Royalty Purchase 
Agreement, we sold to Royalty Pharma the Original Assigned Royalty Rights of the Royalty for $650.0 million. At that 
time, we retained a 57.067% interest in the Royalty and all economic rights to receive the remaining potential regulatory 
and sales milestone payments under the SMA License Agreement. 

In October 2023, we entered into the A&R Royalty Purchase Agreement.  At closing, Royalty Pharma paid us $1.0 

billion in cash consideration for 38.0447% of our Retained Royalty Rights (which is in addition to the Original Assigned 
Royalty Rights, for a total of 80.9777% of the total Royalty) until such time as Royalty Pharma has received payments in 
respect of the Original Assigned Royalty Rights equal to $1.3 billion in the aggregate, and thereafter 66.6667% of the 
total Royalty.  See “Item 7. Management’s Discussion and Analysis of Financial Condition and Results of Operations—
Liquidity and capital resources—Sources of Liquidity” for additional information. 

Research and development expense 

Research and development expenses consist of the costs associated with our research activities, as well as the costs 
associated with our drug discovery efforts, conducting preclinical studies and clinical trials, manufacturing development 
efforts and activities related to regulatory filings. Our research and development expenses consist of: 

• 

• 

• 

external  research  and  development  expenses  incurred  under  agreements  with  third-party  contract  research 
organizations and investigative sites, third-party manufacturing organizations and consultants; 
employee-related  expenses,  which  include  salaries  and  benefits,  including  share-based  compensation,  for  the 
personnel involved in our drug discovery and development activities; and 
facilities, depreciation and other allocated expenses, which include direct and allocated expenses for rent and 
maintenance  of  facilities,  IT,  human  resources,  and  other  support  functions,  depreciation  of  leasehold 
improvements and equipment, and laboratory and other supplies. 

We use our employee and infrastructure resources across multiple research projects, including our drug development 

programs. We track expenses related to our clinical programs and certain preclinical programs on a per project basis. 

We expect our research and development expenses to fluctuate in connection with our ongoing activities, particularly 
in  connection  with  our  activities  for  sepiapterin  and  our  splicing  and  ferroptosis  and  inflammation  programs  and 
performance of any post-marketing requirements imposed by regulatory agencies with respect to our products. The timing 
and amount of these expenses will depend upon the outcome of our ongoing clinical trials and the costs associated with 
our planned clinical trials. The timing and amount of these expenses will also depend on the costs associated with potential 

121 

future  clinical trials  of  our products  or  product  candidates and  the related  expansion of our  research  and development 
organization,  regulatory  requirements,  advancement  of  our  preclinical  programs,  and  product  and  product  candidate 
manufacturing costs. In 2023, as part of our strategic pipeline prioritizations, we decided to discontinue our preclinical and 
early research programs for our gene therapy and oncology platforms, reducing research and development expenses in 
these areas. 

The following table provides research and development expense for our most advanced principal product development 

programs, for the years ended December 31, 2023, 2022, and 2021. 

Metabolic 
Global DMD Franchise 
Gene Therapy 
Ferroptosis and inflammation 
Oncology 
Splicing 
Discovery and other 
Total research and development 

2023 

Year ended  
December 31,  
2022 
(in thousands) 

 $ 

 $ 

 138,581    $ 
 85,393   
 131,518   
 67,852   
 43,701   
 90,322   
 109,196   
 666,563    $ 

 81,810    $ 
 78,544   
 183,487   
 67,209   
 34,395   
 76,208   
 129,843   
 651,496    $ 

2021 

 49,458 
 83,791 
 150,566 
 60,964 
 18,618 
 53,429 
 123,858 
 540,684 

The successful development of our products and product candidates is highly uncertain. This is due to the numerous 

risks and uncertainties associated with developing drugs, including the uncertainty of: 

• 
• 
• 

• 
• 
• 

the scope, rate of progress and expense of our clinical trials and other research and development activities; 
the potential benefits of our products and product candidates over other therapies; 
our  ability  to  market,  commercialize  and  achieve  market  acceptance  for  our  products  or  any  of  our  product 
candidates that we are developing or may develop in the future, including our ability to negotiate pricing and 
reimbursement terms acceptable to us; 
clinical trial results; 
the terms and timing of regulatory approvals; and 
the expense of filing, prosecuting, defending and enforcing patent claims and other intellectual property rights. 

A  change  in  the  outcome  of  any  of  these  variables  with  respect  to  the  development  of  our  products  or  product 
candidates could mean a significant change in the costs and timing associated with the development of those products or 
product candidates. For example, if the EMA or FDA or other regulatory authority were to require us to conduct clinical 
trials beyond those which we currently anticipate will be required for the completion of clinical development of any of our 
products or product candidates or if we experience significant delays in enrollment in any of our clinical trials, we could 
be required to expend significant additional financial resources and time on the completion of clinical development.  

Selling, general and administrative expense 

Selling,  general  and  administrative  expenses  consist  primarily  of  salaries  and  other  related  costs  for  personnel, 
including  share-based  compensation  expenses,  in  our  executive,  legal,  business  development,  commercial,  finance, 
accounting,  information  technology  and  human  resource  functions.  Other  selling,  general  and  administrative  expenses 
include facility-related costs not otherwise included in research and development expense; advertising and promotional 
expenses; costs associated with industry and trade shows; and professional fees for legal services, including patent-related 
expenses, accounting services and miscellaneous selling costs. 

We expect that we will continue to incur significant selling, general and administrative expenses in future periods in 
connection with our continued efforts to commercialize our products, including increased payroll, expanded infrastructure, 
commercial operations, increased consulting, legal, accounting and investor relations expenses. 

122 

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
     
     
 
 
  
 
 
   
  
  
  
 
 
   
  
  
   
  
  
   
  
  
 
Interest expense, net 

Interest expense, net consists of interest expense from the liability for the sale of future royalties related to the Original 
Royalty  Purchase  Agreement,  the  A&R  Royalty  Purchase  Agreement,  the  2026  Convertible  Notes  outstanding,  the 
Blackstone Credit Agreement that we repaid and terminated in October 2023, the 3.00% convertible senior notes due 2022, 
or the 2022 Convertible Notes, that we repaid in August 2022 offset by interest income earned on investments. 

Critical accounting policies and significant judgments and estimates 

Our management’s discussion and analysis of our financial condition and results of operations is based on our financial 
statements, which we have prepared in accordance with generally accepted accounting principles in the United States. The 
preparation of these financial statements requires us to make estimates and assumptions that affect the reported amounts 
of assets and liabilities and the disclosure of contingent assets and liabilities at the date of the financial statements, as well 
as the reported revenues and expenses during the reporting periods. Actual results may differ from these estimates under 
different assumptions or conditions. 

Of our policies, the following are considered critical to an understanding of our consolidated financial statements as 
they require the application of the most subjective and complex judgment, involving critical accounting estimates and 
assumptions impacting our consolidated financial statements: 

•  Revenue recognition related to net product revenue 

•  Contingent consideration from business combinations 

Revenue recognition related to net product revenue 

Net product revenues. Our net product revenue primarily consists of sales of Translarna in territories outside of the 
U.S.  and  sales  of  Emflaza  in  the  U.S.,  both  for  the  treatment  of  DMD.    We  recognize  revenue  when  performance 
obligations with customers have been satisfied. Our performance obligations are to provide products based on customer 
orders from distributors, hospitals, specialty pharmacies or retail pharmacies. The performance obligations are satisfied at 
a point in time when our customer obtains control of the product, which is typically upon delivery. We invoice customers 
after the products have been delivered and invoice payments are generally due within 30 to 90 days of invoice date. We 
determine  the  transaction  price  based  on  fixed  consideration  in  its  contractual  agreements.  Contract  liabilities  arise  in 
certain  circumstances  when  consideration  is  due  for  goods  not  yet  provided.  As  we  have  identified  only  one  distinct 
performance obligation, the transaction price is allocated entirely to the product sale. In determining the transaction price, 
a significant financing component does not exist since the timing from when we deliver product to when the customers 
pay for the product is typically less than one year. Customers in certain countries pay in advance of product delivery. In 
those instances, payment and delivery typically occur in the same month.  

We record product sales net of any variable consideration, which includes discounts, allowances, rebates related to 
Medicaid and other government pricing programs, and distribution fees. We use the expected value or most likely amount 
method  when  estimating  variable  consideration,  unless  discount  or  rebate  terms  are  specified  within  contracts.  The 
identified  variable  consideration  is  recorded  as  a  reduction  of  revenue  at  the  time  revenues  from  product  sales  are 
recognized. These estimates for variable consideration are adjusted to reflect known changes in factors and may impact 
such  estimates  in  the  quarter  those  changes  are  known.  Revenue  recognized  does  not  include  amounts  of  variable 
consideration that are constrained.  

During  the  years  ended  December 31,  2023,  2022,  and  2021,  net  product  sales  in  the  United  States  were  $255.1 
million,  $218.3  million,  and  $187.3  million,  respectively,  consisting  solely  of  sales  of  Emflaza,  and  net  product  sales 
outside of the United States were $406.1 million, $316.9 million, and $241.6 million respectively, consisting of sales of 
Translarna, Tegsedi, Waylivra, and Upstaza. Translarna net product revenues made up $355.8 million, $288.6 million, and 
$236.0 million of the net product sales outside the United States for the years ended December 31, 2023, 2022, and 2021, 
respectively. During the years ended December 31, 2023 and 2022, two countries, the United States and Russia, accounted 
for at least 10% of our net product sales, representing $255.1 million and $86.0 million, and $218.3 million and $59.7 

123 

million, respectively. During the year ended December 31, 2021, only the United States accounted for at least 10% of our 
net product sales. 

In relation to customer contracts, we incur costs to fulfill a contract but do not incur costs to obtain a contract. These 
costs to fulfill a contract do not meet the criteria for capitalization and are expensed as incurred. We consider any shipping 
and handling costs that are incurred after the customer has obtained control of the product as a cost to fulfill a promise. 
Shipping and handling costs associated with finished goods delivered to customers are recorded as a selling expense. 

Contingent consideration from business combinations  

The consideration for our business acquisitions may include future payments that are contingent upon the occurrence 
of a particular event or events. The obligations for such contingent consideration payments are recorded at fair value on 
the acquisition date. The contingent consideration obligations are then evaluated each reporting period. Changes in the fair 
value of contingent consideration, other than changes due to payments, are recognized as a gain or loss and recorded within 
the change in the fair value of deferred and contingent consideration on the consolidated statements of operations. The fair 
value of the development and regulatory milestones are estimated utilizing a probability adjusted, discounted cash flow 
approach. The discount rates are estimated utilizing Corporate B rated bonds maturing in the years of expected payments 
based on our estimated development timelines for the acquired product candidate. The fair value of the net sales milestones 
is determined utilizing a valuation framework that estimates net sales volatility to simulate a range of possible payment 
scenarios. The average of the payments in these scenarios is then discounted to calculate present fair value.   

For a description of our significant accounting policies, see note 2 to our consolidated financial statements. 

Year ended December 31, 2023 compared to year ended December 31, 2022 

The  following  table  summarizes  revenues  and  selected  expense  and  other  income  data  for  the year  ended 

December 31, 2023 and 2022: 

(in thousands) 
Net product revenue 
Collaboration revenue 
Royalty revenue 
Manufacturing revenue 
Cost of product sales, excluding amortization of acquired intangible 
assets 
Amortization of acquired intangible assets 
Research and development expense 
Selling, general and administrative expense 
Change in the fair value of contingent consideration 
Intangible asset impairment  
Interest expense, net 
Other income (expense), net 
Loss on extinguishment of debt 
Income tax benefit 

Year ended  
December 31,  

Change 

  $ 

2023 
 661,249    $ 
 100,030   
 168,856   
 7,687   

2022 
 535,228    $ 
 50,052    $ 
 113,521    $ 
 —    $ 

      2023 vs. 2022 
 126,021 
 49,978 
 55,335 
 7,687 

 65,486   
 222,635   
 666,563   
 332,540   
 (127,700) 
 217,800   
 (129,180) 
 10,130   
 (137,558) 
 69,506   

 20,808 
 44,678    $ 
 106,081 
 116,554    $ 
 15,067 
 651,496    $ 
 325,998    $ 
 6,542 
 (25,900)  $   (101,800)
 184,416 
 33,384    $ 
 (38,309)
 (90,871)  $ 
 59,337 
 (49,207)  $ 
 —    $   (137,558)
 41,036 

 28,470    $ 

Net product revenue.   Net product revenue was $661.2 million for the year ended December 31, 2023, an increase of 
$126.0 million, or 24%, from net product revenue of $535.2 million for the year ended December 31, 2022. Translarna net 
product  revenues  were  $355.8  million  for  the  year  ended  December  31, 2023,  an  increase  of  $67.2  million,  or  23%, 
compared to $288.6 million for the year ended December 31, 2022. These results were driven by treatment of new patients 
in existing geographies and continued geographic expansion. Emflaza net product revenues were $255.1 million for the 
year  ended  December  31, 2023,  an  increase  of  $36.8  million, or  17%, compared  to  $218.3 million for  the year  ended 

124 

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
     
     
 
  
  
 
 
 
 
 
 
 
  
  
 
  
  
 
  
  
 
  
  
 
  
  
 
 
 
 
  
  
 
  
  
 
 
 
 
  
  
 
December 31, 2022. These results were driven by new patient starts and high compliance. The remaining increase of $22.0 
million was due to an increase in net product sales of Tegsedi, Waylivra, and Upstaza. 

Collaboration revenue.   Collaboration revenue was $100.0 million for the year ended December 31, 2023, an increase 
of  $50.0  million,  or  100%,  from  collaboration  revenue  of  $50.1  million  for  the year  ended  December 31,  2022.  The 
increase is due to an increase in actual milestones that were achieved in the year ended December 31, 2023 compared to 
the year ended December 31, 2022, respectively. A sales milestone of $100.0 million was recognized for the achievement 
of $1.5 billion in worldwide annual net sales from Evrysdi in the year ended December 31, 2023. A sales milestone of 
$50.0 million was recognized for the achievement of $750.0 million in worldwide annual net sales from Evrysdi in the 
year ended December 31, 2022.  

Royalty revenue. Royalty revenue was $168.9 million for the year ended December 31, 2023, an increase of $55.3 
million, or 49%, from $113.5 million for the year ended December 31, 2022. The increase in royalty revenue was due to 
higher Evrysdi sales in the year ended December 31, 2023 compared to the year ended December 31, 2022. In accordance 
with the SMA License Agreement, we are entitled to royalties on worldwide annual net sales of the product. 

Manufacturing  revenue. Manufacturing  revenues  were  $7.7  million  for  the  year  ended  December 31, 2023,  an 
increase of $7.7 million, or over 100%, from $0.0 million for the year ended December 31, 2022. The increase is due to 
the manufacturing services related to the production of plasmid DNA and AAV vectors for gene therapy applications for 
external customers. 

Cost  of  product  sales,  excluding  amortization  of  acquired  intangible  asset.  Cost  of  product  sales,  excluding 
amortization of acquired intangible asset, was $65.5 million for the year ended December 31, 2023, an increase of $20.8 
million, or 47%, from $44.7 million for the year ended December 31, 2022. Cost of product sales excluding amortization 
of acquired intangible asset, consist primarily of royalty payments associated with Emflaza, Translarna and Upstaza net 
product sales, excluding contingent payments to Marathon, costs associated with Emflaza, Translarna and Upstaza product 
sold during the period, inventory reserves, and royalty expense related to royalty revenues and collaboration milestone 
revenues. The increase in cost of product sales, excluding amortization of acquired intangible asset, is primarily due to the 
increases in net product revenue, Upstaza inventory reserves, royalty revenues, and collaboration milestone revenue. 

Amortization of acquired intangible asset.  Amortization of acquired intangible asset was $222.6 million for the year 
ended December 31, 2023, an increase of $106.1 million, or 91%, from $116.6 million for the year ended December 31, 
2022. These amounts are related to the Emflaza rights acquisition, as well as the Waylivra, Tegsedi, and Upstaza intangible 
assets, which are all being amortized on a straight-line basis over their estimated useful lives. The amortization increase is 
primarily related to additional Marathon contingent payments for Emflaza. 

Research  and  development  expense.    Research  and  development  expense  was  $666.6  million  for  the year  ended 
December 31, 2023, an increase of $15.1 million, or 2%, compared to $651.5 million for the year ended December 31, 
2022.  The  increase  in  research  and  development  expenses  includes  the  achievement  of  a  $30.0  million  success-based 
development milestone for the completion of enrollment of a Phase 3 clinical trial for sepiapterin for PKU. The increase 
also includes restructuring costs from a reduction in workforce in connection with our strategic pipeline prioritization and 
discontinuation of our preclinical and early research programs in our gene therapy platform in the year ended December 
31,  2023.  These  increases  were  partially  offset  by  decreases  in  program  spend  related  to  our  strategic  portfolio 
prioritization  as  we  continue  to  focus  our  resources  on  our  differentiated,  high  potential  research  and  development 
programs. 

Selling,  general  and  administrative  expense.    Selling,  general  and  administrative  expense  was  $332.5  million  for 
the year  ended  December 31,  2023,  an  increase  of  $6.5  million,  or  2%,  from  $326.0  million  for  the year  ended 
December 31, 2022. The increase reflects our continued investment to support our commercial activities including our 
expanding  commercial  portfolio.  The  increase  also  includes  restructuring  costs  from  a  reduction  in  workforce  in 
connection with our strategic pipeline prioritization and discontinuation of our preclinical and early research programs in 
our gene therapy platform in the year ended December 31, 2023. 

125 

 
 
 
 
 
 
Change in the fair value of contingent consideration. Change in the fair value of contingent consideration was a gain 
of $127.7 million for the year ended December 31, 2023, a change of $101.8 million, or over 100%, from a gain of $25.9 
million for the year ended December 31, 2022. The change is primarily related to our strategic portfolio prioritization and 
decision to discontinue our preclinical and early research programs in our gene therapy platform, which included programs 
for Friedreich ataxia and Angelman syndrome, which was announced in May 2023. As a result, we fully impaired the 
Friedreich ataxia and Angelman syndrome intangible assets and determined that the fair value for all of the contingent 
consideration payable related to Friedreich ataxia and Angelman syndrome was $0. As a result, we recorded a fair value 
change of $128.4 million for the year ended December 31, 2023 for the contingent consideration related to Friedreich 
ataxia and Angelman syndrome  

Intangible asset impairment. Intangible asset impairment was $217.8 million for the year ended December 31, 2023, 
an  increase  of  $184.4  million,  or  over  100%,  from  intangible  asset  impairment  of  $33.4  million  for  the  year  ended 
December 31, 2022. The change is due to our strategic portfolio prioritization and decision to discontinue our preclinical 
and early research programs in our gene therapy platform, which included programs for Friedreich ataxia and Angelman 
syndrome,  which  was  announced  in  May  2023.  As  a  result,  we  fully  impaired  the  Friedreich  ataxia  and  Angelman 
syndrome intangible assets and recorded impairment expense of $217.8 million during the year ended December 31, 2023. 
During  the  year  ended  December  31,  2022,  a  partial  impairment  of  $33.4  million  was  recorded  due  to  a  decrease  in 
projected cash flows for the Upstaza indefinite lived intangible asset due to refinements in market assumptions. 

Interest expense, net.   Interest expense, net was $129.2 million for the year ended December 31, 2023, an increase of 
$38.3 million, or 42%, from interest expense, net of $90.9 million for the year ended December 31, 2022. The increase in 
interest expense, net was primarily due to interest expense recorded from the liability for the sale of future royalties related 
to the A&R Royalty Purchase Agreement and the Original Royalty Purchase Agreement. 

Other income (expense), net.  Other income, net was $10.1 million for the year ended December 31, 2023, a change 
of  $59.3  million,  or  over  100%,  from  other  expense,  net  of $49.2  million  for  the year  ended  December 31,  2022.  The 
change in other income (expense), net resulted primarily from unrealized foreign exchange gains of $11.7 million and 
realized  foreign  currency  exchanges  losses  of  $2.7  million,  for  the  year  ended  December  31,  2023,  as  compared  to 
unrealized foreign exchange losses of $14.4 million and a non cash foreign currency remeasurement loss of $16.9 million 
from the remeasurement of our intercompany loan for the year ended December 31, 2022. In addition, we had unrealized 
and  realized  losses  on  our  equity  investments  and  convertible  debt  security  in  ClearPoint  Neuro,  Inc.  (formerly  MRI 
Interventions, Inc.), or ClearPoint, of $2.7 million and $2.3 million, respectively, for the year ended December 31, 2023, 
as compared to unrealized losses on our equity investments and convertible debt security in ClearPoint, of $3.5 million 
and $5.8 million, respectively, for the year ended December 31, 2022.  

Loss on extinguishment of debt.  Loss on extinguishment of debt was $137.6 million for the year ended December 31, 
2023, an increase of $137.6 million, or 100%, from loss on extinguishment of debt of $0.0 million for the year ended 
December 31, 2022. The increase was primarily due to the early termination of our Blackstone Credit Agreement. We 
recorded  a  loss  on  the  extinguishment  of debt of $92.7 million  for  the  period  ended December 31, 2023.  The  loss  on 
extinguishment  of  debt  consisted  of  $82.0  million  in  prepayment  premiums,  exit  fees,  and  creditor  expenses  and  debt 
issuance costs of $10.7 million. In addition, we recorded $44.9 million on the loss of extinguishment of debt relating to 
the A&R Royalty Purchase Agreement. 

Income tax benefit.   Income tax benefit was $69.5 million for the year ended December 31, 2023, an increase of $41.0 
million, or over 100%, from income tax benefit of $28.5 million for the year ended December 31, 2022. The increase in 
income tax benefit is attributable to the receipt of an outstanding state tax refund received during the year ended December 
31, 2023, and the subsequent release of the associated ASC 740 income tax reserve, as well as the reversal of the deferred 
tax liability recognized in conjunction with the discontinuation of our preclinical and early research programs in our gene 
therapy  platform,  which  included  programs  for  Friedreich  ataxia  and  Angelman  syndrome,  during  the  year  ended 
December 31, 2023. 

126 

 
 
 
 
 
 
Year ended December 31, 2022 compared to year ended December 31, 2021 

The  following  table  summarizes  revenues  and  selected  expense  and  other  income  data  for  the years  ended 

December 31, 2022 and 2021: 

(in thousands) 
Net product revenue 
Collaboration revenue 
Royalty revenue 
Cost of product sales, excluding amortization of acquired intangible 
assets 
Amortization of acquired intangible assets 
Research and development expense 
Selling, general and administrative expense 
Change in the fair value of contingent consideration 
Intangible asset impairment 
Interest expense, net 
Other expense, net 
Income tax benefit (expense) 

Year ended  
December 31,  

Change 

  $ 

2022 
 535,228    $ 
 50,052   
 113,521   

2021 
 428,904    $ 
 55,046    $ 
 54,643    $ 

      2022 vs. 2021 
 106,324 
 (4,994)
 58,878 

 44,678   
 116,554   
 651,496   
 325,998   
 (25,900) 
 33,384   
 (90,871) 
 (49,207) 
 28,470   

 32,328    $ 
 54,751    $ 
 540,684    $ 
 285,773    $ 
 (500)  $ 
 —    $ 
 (86,022)  $ 
 (57,875)  $ 
 (5,561)  $ 

 12,350 
 61,803 
 110,812 
 40,225 
 (25,400)
 33,384 
 (4,849)
 8,668 
 34,031 

Net product revenue.   Net product revenue was $535.2 million for the year ended December 31, 2022, an increase of 
$106.3 million, or 25%, from net product revenue of $428.9 million for the year ended December 31, 2021. Translarna net 
product  revenues  were  $288.6  million  for  the  year  ended  December  31,  2022,  an  increase  of  $52.6  million,  or  22%, 
compared to $236.0 million for the year ended December 31, 2021. These results were driven by treatment of new patients 
in existing geographies and continued geographic expansion. Emflaza net product revenues were $218.3 million for the 
year ended December 31, 2022, an increase of $31.0 million, or 17%, compared to $187.3 million for the year ended 
December 31, 2021. These results were driven by new patient prescriptions, continued high compliance, and appropriate 
weight-based dosing. The remaining increase of $22.7 million was due to an increase in net product sales of Tegsedi, 
Waylivra, and Upstaza. 

Collaboration revenue.   Collaboration revenue was $50.1 million for the year ended December 31, 2022, a decrease 
of $5.0 million, or 9%, from collaboration revenue of $55.0 million for the year ended December 31, 2021. The decrease 
is due to a decrease in actual milestones that were achieved in the year ended December 31, 2022 compared to the year 
ended December 31, 2021, respectively. A sales milestone of $50.0 million was recognized for the achievement of $750.0 
million  in  worldwide  annual  net  sales  from  Evrysdi  in  the  year  ended  December  31,  2022.  In  March  2021,  the  first 
commercial sale of Evrysdi in the EU was made. This event triggered a $20.0 million milestone payment to us from Roche. 
Additionally, in June 2021, the Japanese Ministry of Health, Labor and Welfare approved Evrysdi for the treatment of 
SMA in Japan. In August 2021, the first commercial sale of Evrysdi in Japan triggered a $10.0 million milestone payment 
to us from Roche.  In December 2021, we recorded our first sales milestone of $25.0 million for the achievement of $500.0 
million in worldwide annual net sales from Evrysdi.  

Royalty revenue. Royalty revenue was $113.5 million for the year ended December 31, 2022, an increase of $58.9 
million, or over 100%, from $54.6 million for the year ended December 31, 2021. The increase in royalty revenue was 
due to higher Evrysdi sales in the year ended December 31, 2022 as compared to the year ended December 31, 2021. In 
accordance with the SMA License Agreement, we are entitled to royalties on worldwide annual net sales of the product. 

Cost  of  product  sales,  excluding  amortization  of  acquired  intangible  asset.  Cost  of  product  sales,  excluding 
amortization of acquired intangible asset, was $44.7 million for the year end December 31, 2022, an increase of $12.4 
million, or 38%, from $32.3 million for the year ended December 31, 2021. Cost of product sales, excluding amortization 
of acquired intangible asset, consist primarily of royalty payments associated with Emflaza, Translarna and Upstaza net 
product sales, excluding contingent payments to Marathon, costs associated with Emflaza, Translarna and Upstaza product 

127 

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
    
     
 
  
  
 
  
  
 
  
  
 
 
 
 
 
 
 
  
  
 
  
  
 
  
  
 
  
  
 
  
  
 
  
  
 
 
sold during the period, and royalty expense related to royalty revenues and collaboration milestone revenues. The increase 
in cost of product sales, excluding amortization of acquired intangible asset, is primarily due to the increases in net product 
revenue, royalty revenues, and collaboration milestone revenue. 

Amortization of acquired intangible asset.  Amortization of acquired intangible asset was $116.6 million for the year 
ended December 31, 2022, an increase of $61.8 million, or over 100%, from $54.8 million for the year ended December 
31,  2021.  These  amounts  are  related  to  the  Emflaza  rights  acquisition,  as  well  as  the  Waylivra,  Tegsedi,  and  Upstaza 
intangible assets, which are all being amortized on a straight-line basis over their estimated useful lives. With the approval 
of Upstaza by the EC in July 2022, $89.6 million was reclassified from indefinite lived intangible assets to definite lived 
intangible assets, which is being amortized over its expected useful life. The amortization increase is primarily related to 
the additional Marathon contingent payments, which includes a $50.0 million contingent payment made in the year ended 
December 31, 2022. 

Research  and  development  expense.    Research  and  development  expense  was  $651.5  million  for  the  year  ended 
December 31, 2022, an increase of $110.8 million, or 20%, compared to $540.7 million for the year ended December 31, 
2021.  The increase in research and development expenses is primarily related to increased investment in research programs 
and advancement of the clinical pipeline. 

Selling, general and administrative expense.  Selling, general and administrative expense was $326.0 million for the 
year ended December 31, 2022, an increase of $40.2 million, or 14%, from $285.8 million for the year ended December 
31, 2021. The increase reflects our continued investment to support our commercial activities including our expanding 
commercial portfolio. 

Change in the fair value of contingent consideration. Change in the fair value of contingent consideration was a gain 
of $25.9 million for the year ended December 31, 2022, a change of $25.4 million, or over 100%, from a gain of $0.5 
million  for  the year  ended  December 31,  2021.  The  change  is  related  to  the  fair  valuation  of  the  potential  future 
consideration  to  be  paid  to  former  equityholders  of  Agilis  as  a  result  of  our  merger  with  Agilis  which  closed  in 
August 2018. Changes in the fair value were due to the re-calculation of discounted cash flows for the passage of time and 
changes to certain other estimated assumptions. 

Intangible asset impairment. Intangible asset impairment was $33.4 million for the year ended December 31, 2022, 
an increase of $33.4 million, 100%, from intangible asset impairment of $0.0 million for the year ended December 31, 
2021. The increase was due to a decrease in projected cash flows for the Upstaza indefinite lived intangible asset due to 
refinements in current market assumptions and the timing of patient treatments, resulting in a partial impairment. 

Interest expense, net.   Interest expense, net was $90.9 million for the year ended December 31, 2022, an increase of 
$4.8  million,  6%,  from  interest  expense,  net  of  $86.0  million  for  the year  ended  December 31,  2021.   The  increase  in 
interest expense, net was primarily due to interest expense recorded from the senior secured term loan, partially offset by 
lower interest expense due to the repayment of the 2022 Convertible Notes. 

Other expense, net.   Other expense, net was $49.2 million for the year ended December 31, 2022, a decrease of $8.7 
million,  15%,  from  other  expense,  net  of $57.9  million  for  the year  ended  December 31,  2021.  The  decrease  in  other 
expense, net resulted primarily from an unrealized foreign exchange loss of $14.4 million and a non cash foreign currency 
remeasurement loss of $16.9 million from the remeasurement of our intercompany loan for the year end December 31, 
2022, as compared to an unrealized foreign exchange loss of $41.0 million from the remeasurement of our intercompany 
loan for the year ended December 31, 2021. In addition, we had unrealized losses on our equity investments and convertible 
debt  security  in  ClearPoint,  of  $3.5  million  and  $5.8  million,  respectively,  for  the  year  ended  December  31,  2022,  as 
compared to unrealized losses on our equity investments and convertible debt security in ClearPoint of $6.1 million and 
$8.3 million, respectively, for the year ended December 31, 2021 

Income tax benefit (expense).   Income tax benefit was $28.5 million for the year ended December 31, 2022, a change 
of $34.0 million, or over 100%, from income tax expense of $5.6 million for the year ended December 31, 2021. The 
change in income tax benefit (expense) is primarily attributable to the partial amortization of an intangible which had 

128 

 
 
 
 
 
 
 
 
previously  been  classified  as  an  indefinite  lived  intangible,  and  the  subsequent  release  of  a  portion  of  the  valuation 
allowance associated with this asset. 

Liquidity and capital resources 

Sources of liquidity 

Since inception, we have incurred significant operating losses. 

As a growing commercial-stage biopharmaceutical company, we are engaging in significant commercialization efforts 
for  our  products  while  also  devoting  a  substantial  portion  of  our  efforts  on  research  and  development  related  to  our 
products,  product  candidates  and  other  programs.  To  date,  our  product  revenue  has  primarily  consisted  of  sales  of 
Translarna for the treatment of nmDMD in territories outside of the United States and from Emflaza for the treatment of 
DMD in the United States. Our ongoing ability to generate revenue from sales of Translarna for the treatment of nmDMD 
is dependent upon our ability to maintain our marketing authorizations in Brazil, Russia and in the EEA and secure market 
access through commercial programs following the conclusion of pricing and reimbursement terms at sustainable levels 
in the member states of the EEA or through EAP programs or similar styled programs in the EEA and other territories. On 
January  25,  2024,  the  CHMP  issued  a  negative  opinion  for  the  renewal  of  the  conditional  marketing  authorization 
following a re-examination procedure. In accordance with EMA regulations, the EC has 67 days to adopt the opinion from 
the date of its issuance. If the EC adopts the negative opinion, Translarna would no longer have marketing authorization 
in the EEA. Emflaza is approved in the United States for the treatment of DMD in patients two years and older. Our ability 
to  generate  product  revenue  from  Emflaza  will  largely  depend  on  the  coverage  and  reimbursement  levels  set  by 
governmental authorities, private health insurers and other third-party payors.  Additionally, Emflaza’s seven-year period 
of orphan drug exclusivity related to the treatment of DMD in patients five years and older expired in February 2024. We 
have previously relied on this exclusivity period to commercialize Emflaza in the United States. We expect the expiration 
of this orphan drug exclusivity to have a significant negative impact on Emflaza net product revenue. Emflaza’s orphan 
drug exclusivity related to the treatment of DMD in patients two years of age to less than five expires in June 2026. 

We have financed our operations to date primarily through private offerings of convertible senior notes, public and 
“at the market offerings” of common stock, proceeds from royalty purchase agreements, net proceeds from our borrowings 
under our credit agreement with Blackstone, private placements of our convertible preferred stock and common stock, 
collaborations,  bank  and  institutional  lender  debt,  other  convertible  debt,  grant  funding  and  clinical  trial  support  from 
governmental and philanthropic organizations and patient advocacy groups in the disease area addressed by our product 
candidates. We expect to continue to incur significant expenses and operating losses for at least the next fiscal year. The 
net losses we incur may fluctuate significantly from quarter to quarter.  

In August 2019, we entered into the Sales Agreement, pursuant to which, we may offer and sell shares of our common 
stock, having an aggregate offering price of up to $125.0 million from time to time through the Sales Agents by any method 
that is deemed to be an “at the market offering” as defined in Rule 415(a)(4) promulgated under the Securities Act. See 
“Item 7. Management’s Discussion and Analysis of Financial Condition and Results of Operations—Overview—Funding” 
for additional information regarding the transactions described in this paragraph. 

In September 2019, we issued $287.5 million aggregate principal amount of 2026 Convertible Notes, which included 
an option to purchase up to an additional $37.5 million in aggregate principal amount of the 2026 Convertible Notes, 
which was exercised in full by the initial purchasers. The 2026 Convertible Notes bear cash interest at a rate of 1.50% 
per year, payable semi-annually on March 15 and September 15 of each year, beginning on March 15, 2020. The 2026 
Convertible Notes will mature on September 15, 2026, unless earlier repurchased or converted. We received net proceeds 
of $279.3 million after deducting the initial purchasers’ discounts and commissions and the offering expenses payable by 
us. 

Holders may convert their 2026 Convertible Notes at their option at any time prior to the close of business on the 
business  day  immediately  preceding March 15,  2026 only  under  the  following  circumstances:  (1) during  any  calendar 
quarter commencing on or after December 31, 2019 (and only during such calendar quarter), if the last reported sale price 
of  our  common  stock  for  at  least 20 trading days  (whether  or  not  consecutive)  during  a  period  of 30 consecutive 

129 

 
trading days  ending  on  the  last  trading  day  of  the  immediately  preceding  calendar  quarter  is  greater  than  or  equal 
to 130% of  the  conversion  price  on  each  applicable  trading  day;  (2) during  the five  business  day  period  after 
any five consecutive trading day period, or the measurement period, in which the trading price (as defined in the 2026 
Convertible  Notes Indenture)  per  $1,000  principal  amount  of  2026  Convertible  Notes for  each  trading  day  of  the 
measurement  period  was  less  than 98% of  the  product  of  the  last  reported  sale  price  of  our  common  stock  and  the 
conversion rate on each such trading day; (3) during any period after we have issued notice of redemption until the close 
of business on the scheduled trading day immediately preceding the relevant redemption date; or (4) upon the occurrence 
of specified corporate events. On or after March 15, 2026, until the close of business on the business day immediately 
preceding the maturity date, holders may convert their 2026 Convertible Notes at any time, regardless of the foregoing 
circumstances. Upon conversion, we will pay or deliver, as the case may be, cash, shares of our common stock or any 
combination thereof at our election. 

The conversion rate for the 2026 Convertible Notes was initially, and remains, 19.0404 shares of our common stock 
per  $1,000  principal  amount  of  the  2026  Convertible  Notes,  which  is  equivalent  to  an  initial  conversion  price  of 
approximately $52.52 per share of our common stock. The conversion rate may be subject to adjustment in some events 
but will not be adjusted for any accrued and unpaid interest. 

We were not permitted to redeem the 2026 Convertible Notes prior to September 20, 2023. We may redeem for cash 
all or any portion of the 2026 Convertible Notes, at our option, if the last reported sale price of our common stock has been 
at least 130% of the conversion price then in effect on the last trading day of, and for at least 19 other trading days (whether 
or not consecutive) during, any 30 consecutive trading day period ending on, and including, the trading day immediately 
preceding the date on which we provide notice of redemption, at a redemption price equal to 100% of the principal amount 
of the 2026 Convertible Notes to be redeemed, plus accrued and unpaid interest to, but excluding, the redemption date. No 
sinking fund is provided for the 2026 Convertible Notes, which means that we are not required to redeem or retire the 
2026 Convertible Notes periodically. 

If  we  undergo  a  “fundamental  change”  (as  defined  in  the  2026  Convertible  Notes Indenture),  subject  to  certain 
conditions,  holders  of  the  2026  Convertible  Notes may  require  us  to  repurchase  for  cash  all  or  part  of  their  2026 
Convertible  Notes at  a  repurchase  price  equal  to  100%  of  the  principal  amount  of  the  2026  Convertible  Notes to  be 
repurchased, plus accrued and unpaid interest to, but excluding, the fundamental change repurchase date. 

The 2026 Convertible Notes represent senior unsecured obligations and will rank senior in right of payment to our 
future indebtedness that is expressly subordinated in right of payment to the notes, equal in right of payment to our existing 
and future unsecured indebtedness that is not so subordinated, effectively junior in right of payment to any of our secured 
indebtedness to the extent of the value of the assets securing such indebtedness, and structurally subordinated to all existing 
and future indebtedness and other liabilities (including trade payables) incurred by our subsidiaries. The 2026 Convertible 
Notes Indenture  contains  customary  events of  default  with  respect  to  the  2026  Convertible  Notes,  including  that upon 
certain  events  of  default  (including  our  failure  to  make  any  payment  of  principal  or  interest  on  the  2026  Convertible 
Notes when due and payable) occurring and continuing, the 2026 Convertible Notes Trustee by notice to us, or the holders 
of  at  least  25%  in  principal  amount  of  the  outstanding  2026  Convertible  Notes by  notice  to  us  and  the  Convertible 
Notes Trustee, may, and the 2026 Convertible Notes Trustee at the request of such holders (subject to the provisions of 
the 2026 Convertible Notes Indenture) will, declare 100% of the principal of and accrued and unpaid interest, if any, on 
all the 2026 Convertible Notes to be due and payable. In case of certain events of bankruptcy, insolvency or reorganization, 
involving us or a significant subsidiary, 100% of the principal of and accrued and unpaid interest on the 2026 Convertible 
Notes will automatically become due and payable. Upon such a declaration of acceleration, such principal and accrued 
and unpaid interest, if any, will be due and payable immediately. 

In July 2020, we entered into the Original Royalty Purchase Agreement. Pursuant to the Original Royalty Purchase 
Agreement, we sold to Royalty Pharma the Original Assigned Royalty Rights in consideration for $650.0 million. See 
“Item 7. Management’s Discussion and Analysis of Financial Condition and Results of Operations—Overview—Funding” 
for additional information regarding this transaction. 

In October 2022, we entered into the Blackstone Credit Agreement for fundings of up to $950.0 million consisting of 
a committed loan facility consisting of a senior secured term loan facility funded on the Closing Date, in the aggregate 

130 

principal amount of $300.0 million, and a delayed draw term loan facility of up to $150.0 million to be funded at our 
request within 18 months of the Closing Date subject to specified conditions, and further contemplating the potential for 
up to $500.0 million of additional financing, to the extent that we request such additional financing and subject to the 
Lenders’  agreement  to  provide  such  additional  financing  and  to  mutual  agreement  on  terms.  In  October  2023,  we 
terminated the Blackstone Credit Agreement. We recorded a loss on the extinguishment of debt of $92.7 million which is 
included on the statement of operations for the period ended December 31, 2023. The loss on extinguishment of debt 
consisted of $82.0 million in prepayment premiums, exit fees, and creditor expenses and debt issuance costs of $10.7 
million. All liens and security interests securing the loans made pursuant to the Blackstone Credit Agreement were released 
upon termination. 

In October 2023, we entered into the A&R Royalty Purchase Agreement.  At closing, Royalty Pharma paid us $1.0 
billion in cash consideration for 38.0447% of our Retained Royalty Rights (which is in addition to the Original Assigned 
Royalty Rights, for a total of 80.9777% of the total Royalty) until such time as Royalty Pharma has received payments in 
respect of the Original Assigned Royalty Rights equal to $1.3 billion in the aggregate, and thereafter 66.6667% of the total 
Royalty.  In addition, we may sell to Royalty Pharma the remainder of our Retained Royalty Rights in exchange for an 
aggregate of $500.0 million in additional cash consideration after the closing of the A&R Royalty Purchase Agreement, 
less royalties received in respect of the Retained Royalty Rights put to Royalty Pharma, which will be payable by Royalty 
Pharma pursuant to five put options held by us that are exercisable at our option between January 1, 2024 and December 
31, 2025.  If we exercise two or fewer of the put options, Royalty Pharma may exercise a call option during the period 
from and after January 1, 2026 until and including March 31, 2026 for up to 50% of the remainder of our Retained Royalty 
Rights less amounts exercised by us via our put options at a purchase price that is proportional to the purchase price of our 
unexercised put options. Royalty Pharma’s exercise of the call option would result in Royalty Pharma owning 90.4888% 
of the total Royalty until such time as Royalty Pharma has received payments in respect of the Original Assigned Royalty 
Rights equal to $1.3 billion in the aggregate, and thereafter 83.3333% of the total Royalty. 

The A&R Royalty Purchase Agreement includes specified negative and affirmative covenants with respect to our 
rights under the SMA License Agreement as well as other customary representations and warranties, covenants and other 
provisions. The A&R Royalty Purchase Agreement will terminate 60 days following the date on which Roche is no longer 
obligated to make any payments of the Royalty pursuant to the SMA License Agreement. 

Cash flows 

As of December 31, 2023, we had cash and cash equivalents and marketable securities of $876.7 million. 

The  following  table  provides  information  regarding  our  cash  flows  and  our  capital  expenditures  for  the  periods 

indicated. 

(in thousands) 
Cash (used in) provided by: 
Operating activities 
Investing activities 
Financing activities 

Years ended 
December 31,  
2022 

2023 

2021 

 $ 
 $ 
 $ 

 (158,418)   $ 
 (176,737)   $ 
 646,400    $ 

 (356,654)  $ 
 290,181   $ 
 167,952   $ 

 (251,332)
 219,182 
 20,877 

Net  cash  used  in  operating  activities  was  $158.4  million,  $356.7  million,  and  $251.3  million  for  the years  ended 
December 31, 2023, 2022, and 2021, respectively. The net cash used in operating activities primarily relates to supporting 
clinical development and commercial activities for the years ended December 31, 2023, 2022, and 2021. 

Net cash used in investing activities was $176.7 million for the year ended December 31, 2023. Net cash provided by 
investing activities was $290.2 million and 219.2 million for the years ended December 31, 2022, and 2021, respectively. 
The cash used in investing activities for the year ended December 31, 2023 is primarily attributable to the purchases of 
marketable  securities  –  available  for  sale,  purchases  of  marketable  securities  –  equity  investments,  purchases  of  fixed 
assets, and the acquisition of product rights, offset by the sale and redemption of marketable securities – available for sale, 

131 

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
     
     
  
     
 
    
 
  
 
sale  and  redemption  of  marketable  securities  –  equity  investments,  and  the  sale  and  redemption  of  ClearPoint  Equity 
Investments. The cash provided by investing activities for the years ended December 31, 2022 and December 31, 2021 
were  primarily  related  to  net  sales  and  redemptions  of  marketable  securities  –  available  for  sale  and  net  sales  and 
redemptions  of  marketable  securities  –  equity  investments,  partially  offset  by  purchases  of  marketable  securities  – 
available for sale, purchases of marketable securities – equity investments, purchases of fixed assets, and the acquisition 
of product rights.  

Net cash provided by financing activities was $646.4 million, $168.0 million, and $20.9 million for the years ended 
December  31,  2023,  2022  and  2021,  respectively.  The  cash  provided  by  financing  activities  for  the year  ended 
December 31, 2023 is primarily attributable to the proceeds received from the A&R Royalty Purchase Agreement, exercise 
of options, issuance of stock under our Employee Stock Purchase Plan, or ESPP, offset by the repayment of the senior 
secured term loan, debt issuance costs, debt extinguishment costs related to senior secured term loan, and payments on our 
finance  lease  principal.  The  cash  provided  by  financing  activities  for  the year  ended  December  31,  2022  is  primarily 
attributable to the proceeds from the issuance of the senior secured term loan under the Blackstone Credit Agreement, the 
stock purchase agreement entered into in connection with the execution of the Blackstone Credit Agreement, the exercise 
of options, and issuance of stock under our ESPP, offset by the repayment of the 2022 Convertible Notes, payments on 
contingent consideration obligation, and payments on our finance lease principal. The cash provided by financing activities 
for the year ended December 31, 2021 is primarily attributable to the exercise of options, and issuance of stock under our 
ESPP offset by payments on our finance lease principal.  

Funding requirements 

We anticipate that we will continue to incur significant expenses in connection with our commercialization efforts in 
the United States, the EEA, Latin America and other territories, including expenses related to our commercial infrastructure 
and corresponding sales and marketing, legal and regulatory, and distribution and manufacturing undertakings as well as 
administrative and employee-based expenses. In addition to the foregoing, we expect to continue to incur significant costs 
in connection with ongoing, planned and potential future clinical trials and studies for sepiapterin and our splicing and 
ferroptosis and inflammation programs as well as studies in our products for maintaining authorizations, label extensions 
and additional indications. We continue to seek marketing authorization for Translarna for the treatment of nmDMD in 
territories that we do not currently have marketing authorization in and we are exploring other potential mechanisms in 
which we may provide Translarna to nmDMD patients in the EEA if the EC ratifies the CHMP’s negative opinion for 
Translarna  following  a  re-examination  procedure.  We  anticipate  submitting  a  BLA  to  the  FDA  for  Upstaza  for  the 
treatment of AADC deficiency in the United States in March 2024. We also expect to submit an MAA to the EMA for 
sepiapterin for the treatment of PKU in March 2024 and we expect to submit an NDA to the FDA for sepiapterin for the 
treatment of PKU no later than the third quarter of 2024. These efforts may significantly impact the timing and extent of 
our commercialization and manufacturing expenses. 

In addition, our expenses will increase if and as we: 

• 

• 

• 

• 

seek  to  satisfy  contractual  and  regulatory  obligations  that  we  assumed  through  our  acquisitions  and 
collaborations; 

execute  our  commercialization  strategy  for  our  products,  including  initial  commercialization  launches  of  our 
products, label extensions or entering new markets; 

are  required  to  complete  any  additional  clinical  trials,  non-clinical  studies  or  Chemistry,  Manufacturing  and 
Controls, or CMC, assessments or analyses in order to advance Translarna for the treatment of nmDMD in the 
United States or elsewhere; 

are required to take other steps to maintain our current marketing authorization in the EEA, Brazil and Russia for 
Translarna  for  the  treatment  of  nmDMD  or  to  obtain  further  marketing  authorizations  for  Translarna  for  the 
treatment of nmDMD or other indications; 

132 

• 

• 

• 

• 

initiate or continue the research and development of sepiapterin and our splicing and ferroptosis and inflammation 
programs  as  well  as  studies  in  our  products  for  maintaining  authorizations,  label  extensions  and  additional 
indications; 

continue to utilize our leased biologics manufacturing and laboratory space located in Hopewell Township, New 
Jersey, or the Hopewell Facility, to manufacture program materials for third parties; 

seek to discover and develop additional product candidates; 

seek to expand and diversify our product pipeline through strategic transactions; 

•  maintain, expand and protect our intellectual property portfolio; and 

• 

add operational, financial and management information systems and personnel, including personnel to support 
our product development and commercialization efforts. 

We believe that our cash flows from product sales, together with existing cash and cash equivalents, and marketable 
securities, will be sufficient to fund our operating expenses and capital expenditure requirements for at least the next twelve 
months. We have based this estimate on assumptions that may prove to be wrong, and we could use our capital resources 
sooner than we currently expect. 

Our future capital requirements will depend on many factors, including: 

• 

• 

• 

• 

• 

• 

• 

• 

• 

our  ability  to  maintain  our  marketing  authorization  for  Translarna  for  the  treatment  of  nmDMD  in  the  EEA 
following the CHMP’s negative opinion on the conditional marketing authorization following a re-examination 
procedure or identify other potential mechanisms in which we may provide Translarna to nmDMD patients in the 
EEA; 

our ability to maintain the marketing authorization for Translarna and our other products in territories outside of 
the EEA; 

our  ability  to  commercialize  and  market  our  products  and  product  candidates  that  may  receive  marketing 
authorization; 

our ability to negotiate, secure and maintain adequate pricing, coverage and reimbursement terms, on a timely 
basis, with third-party payors for our products and products candidates; 

the amount of generic drug competition that we face for Emflaza following its loss of orphan drug exclusivity 
related to the treatment of DMD in patients five years and older; 

our ability to obtain marketing authorization for sepiapterin for the treatment of PKU in the United States and 
EEA; 

our ability to obtain marketing authorization for Upstaza for the treatment of AADC deficiency in the United 
States; 

the costs, timing and outcome of our efforts to advance Translarna for the treatment of nmDMD in the United 
States, including, whether we will be required to perform additional clinical trials, non-clinical studies or CMC 
assessments or analyses at significant cost which, if successful, may enable FDA review of an NDA re-submission 
by us and, ultimately, may support approval of Translarna for nmDMD in the United States; 

unexpected  decreases  in  revenue  or  increase  in  expenses  resulting  from  potential  widespread  outbreaks  of 
contagious disease, such as COVID-19; 

133 

 
• 

• 

• 

• 

• 

• 

• 

• 

• 

• 

• 

• 

• 

• 

our ability to successfully complete all post-marketing requirements imposed by regulatory agencies with respect 
to our products; 

the progress and results of activities for sepiapterin and our splicing and ferroptosis and inflammation programs 
as well as studies in our products for maintaining authorizations, label extensions and additional indications; 

the  scope,  costs  and  timing  of  our  commercialization  activities,  including  product  sales,  marketing,  legal, 
regulatory, distribution and manufacturing, for any of our products and for any of our other product candidates 
that may receive marketing authorization or any additional territories in which we receive authorization to market 
Translarna; 

the  costs,  timing  and  outcome  of  regulatory  review  of  sepiapterin  and  our  splicing  and  ferroptosis  and 
inflammation programs and Translarna and Upstaza in other territories; 

our ability to satisfy our obligations under the indenture governing the 2026 Convertible Notes; 

the timing and scope of any potential future growth in our employee base; 

the scope, progress, results and costs of preclinical development, laboratory testing and clinical trials for our other 
product candidates, including those in our splicing and ferroptosis and inflammation programs; 

revenue received from commercial sales of our products or any of our product candidates; 

our ability to obtain additional and maintain existing reimbursed named patient and cohort EAP programs for 
Translarna for the treatment of nmDMD on adequate terms, or at all; 

the ability and willingness of patients and healthcare professionals to access Translarna through alternative means 
if pricing and reimbursement negotiations in the applicable territory do not have a positive outcome; 

our ability to continue to utilize the Hopewell Facility to manufacture program materials for third parties; 

the  costs  of  preparing,  filing  and  prosecuting  patent  applications,  maintaining,  and  protecting  our  intellectual 
property rights and defending against intellectual property-related claims; 

the  extent  to  which  we  acquire  or  invest  in  other  businesses,  products,  product  candidates,  and  technologies, 
including the success of any acquisition, in-licensing or other strategic transaction we may pursue, and the costs 
of  subsequent  development  requirements  and  commercialization  efforts,  including  with  respect  to  our 
acquisitions of Emflaza, Agilis, our ferroptosis and inflammation platform and Censa and our licensing of Tegsedi 
and Waylivra; and 

our  ability  to  establish  and  maintain  collaborations,  including  our  collaborations  with  Roche  and  the  SMA 
Foundation, and our ability to obtain research funding and achieve milestones under these agreements. 

With respect to our outstanding 2026 Convertible Notes, cash interest payments are payable on a semi-annual basis 

in arrears, which will require total funding of $4.3 million annually.  

In February 2023, we completed enrollment of our Phase 3 placebo-controlled clinical trial for sepiapterin for PKU.  
In connection with this event and pursuant to the Censa Merger Agreement, we paid a $30.0 million development milestone 
to the former Censa securityholders during the year ended December 31, 2023. We elected to pay this milestone in the 
form of shares of our common stock, less certain cash payments in accordance with the Censa Merger Agreement. Pursuant 
to such election, we issued 657,462 shares of our common stock and paid $0.4 million to the former Censa securityholders. 

134 

We expect to make additional payments to the former Censa securityholders of $65.0 million in the aggregate in cash 
upon  the  potential  achievement  in  2024  of  certain  regulatory  milestones  relating  to  sepiapterin  pursuant  to  the  Censa 
Merger Agreement. We also expect to pay the former equityholders of Agilis $20.0 million in development milestone 
payments upon the acceptance for filing by the FDA of a BLA for Upstaza for the treatment of AADC deficiency and $4.5 
million in regulatory milestone payments upon the approval of the BLA from the FDA.  We anticipate submitting a BLA 
to the FDA for Upstaza for the treatment of AADC deficiency in the United States in March 2024. Furthermore, since we 
are a public company, we have incurred and expect to continue to incur additional costs associated with operating as such 
including significant legal, accounting, investor relations and other expenses. 

We also have certain significant contractual obligations and commercial commitments that require funding. We lease 
office space for our principal office in South Plainfield, New Jersey and we occupy under leases that expire in 2024, with 
two consecutive five-year renewal options to renew the leases after 2024. Additionally, we entered into a lease agreement 
for approximately 103,000 square feet of laboratory and office space in Bridgewater, New Jersey.  The rental term for 
such facility commenced on May 1, 2020 with an initial term of seven years and two consecutive five year renewal periods 
at our option. We have significant lease obligations that stem from our lease of office, manufacturing, and laboratory space 
in Hopewell, New Jersey. The rental term for such facility commenced on July 1, 2020, with an initial term of fifteen years 
and two consecutive 10-year renewal periods at our option. We also lease two entire buildings comprised of approximately 
360,000 square feet of shell condition, modifiable space at a facility located in Warren, New Jersey. The rental term for 
such facility commenced on June 1, 2022, with an initial term of seventeen years followed by three consecutive five-year 
renewal periods at our option. In addition, we lease office space, vehicles and equipment in various other locations in the 
U.S. and other countries for our employees and operations. We have a total of $252.6 million in obligations that stem from 
our operating leases. 

We have a total of $27.0 million in obligations that stem from a commercial manufacturing services agreement entered 
into with MassBio on June 19, 2020, for a term of 12.5 years. Pursuant to the terms of the agreement, MassBio agreed to 
provide us with four dedicated rooms for our Upstaza program. 

Under an Exclusive License and Supply Agreement, or the Faes Agreement, with Faes Farma, S.A., or Faes, we are 
required to pay royalties as a percentage of or as a fixed payment with respect to net product sales by us allocable to the 
Emflaza  oral  suspension  product.  We  are  required  to  pay  Faes  an  annual  minimum  royalty  during  the  first  seven 
calendar years from the FDA approval date of the Emflaza oral suspension product. The minimum royalty based on the 
euro to U.S. dollar exchange rate as of December 31, 2023 is $1.7 million, which represents the last annual minimum 
royalty payment due. Thereafter, a fixed percentage royalty is due during the remainder of the Faes Agreement term.  

Under various agreements, including the sponsored research agreement with the SMA Foundation discussed below, 
we will be required to pay royalties and milestone payments upon the successful development and commercialization of 
products. 

We  have  entered  into  a  sponsored  research  agreement  with  the  SMA  Foundation  in  connection  with  our  spinal 
muscular atrophy program. We may become obligated to pay the SMA Foundation single-digit royalties on worldwide net 
product sales of any collaboration product that we successfully develop and subsequently commercialize or, with respect 
to collaboration products we outlicense, including Evrysdi, a specified percentage of certain payments we receive from 
our licensee. We are not obligated to make such payments unless and until annual sales of a collaboration product exceed 
a designated threshold. Since inception, the SMA Foundation has earned $52.5 million, $35.3 million which was paid and 
$17.2 million which was accrued as of December 31, 2023.  We have reached our obligation to make such payments to 
the SMA Foundation of an aggregate of $52.5 million as of December 31, 2023. Refer to “Ongoing Acquisition- Related 
Obligations” in Item 1. Business. 

Additionally, we have employment agreements with certain employees which require the funding of a specific level 

of payments, if certain events, such as a change in control or termination without cause, occur. 

We have never been profitable and we will need to generate significant revenues to achieve and sustain profitability, 
and  we  may  never  do  so.  We  may  need  to  obtain  substantial  additional  funding  in  connection  with  our  continuing 
operations. Until such time, if ever, as we can generate substantial product revenues, we expect to finance our cash needs 

135 

primarily through a combination of equity offerings, debt financings, collaborations, strategic alliances, grants and clinical 
trial  support  from  governmental  and  philanthropic  organizations  and  patient  advocacy  groups  in  the  disease  areas 
addressed  by  our  product  and  product  candidates  and  marketing,  distribution  or  licensing  arrangements.  Adequate 
additional financing may not be available to us on acceptable terms, or at all. To the extent that we raise additional capital 
through the sale of equity or convertible debt securities, our stockholders ownership interest will be diluted, and the terms 
of these securities may include liquidation or other preferences that adversely affect the rights of our common stockholders. 
Debt  financing,  if  available,  may  involve  agreements  that  include  covenants  limiting  or  restricting  our  ability  to  take 
specific  actions,  such  as  incurring  additional  debt,  making  capital  expenditures  or  declaring  dividends.  If  we  raise 
additional funds through collaborations, strategic alliances or marketing, distribution or licensing arrangements with third 
parties,  we  may  have  to  relinquish  valuable  rights  to  our  technologies,  future  revenue  streams,  research  programs  or 
product candidates or to grant licenses on terms that may not be favorable to us. 

If we are unable to raise additional funds through equity, debt or other financings when needed or on attractive terms, 
we may be required to delay, limit, reduce or terminate our product development or commercialization efforts or grant 
rights to develop and market product candidates that we would otherwise prefer to develop and market ourselves. 

Item 7A.   Quantitative and Qualitative Disclosures about Market Risk 

We are exposed to market risk related to changes in interest rates. Our primary exposure to market risk is interest rate 
sensitivity, which is affected by changes in the general level of U.S. interest rates, particularly because our investments 
are in short-term securities. Our available for sale securities are subject to interest rate risk and will fall in value if market 
interest rates increase. At any time, sharp changes in interest rates can affect the fair value of the investment portfolio and 
its interest earnings. There were no investments classified as long-term at December 31, 2023. At December 31, 2023, we 
held $876.7 million in cash and cash equivalents and short-term investments. After a review of our marketable investment 
securities, we believe that in the event of a hypothetical ten percent increase in interest rates, the resulting decrease in fair 
value of our marketable investment securities would be insignificant to the consolidated financial statements. 

Currently, we do not hedge these interest rate exposures. We maintain an investment portfolio in accordance with our 
investment policy. The primary objectives of our investment policy are to preserve principal, maintain proper liquidity and 
to meet operating needs. Although our investments are subject to credit risk, our investment policy specifies credit quality 
standards for our investments and limits the amount of credit exposure from any single issue, issuer or type of investment. 
Our investments are also subject to interest rate risk and will decrease in value if market interest rates increase. However, 
due to the conservative nature of our investments and relatively short duration, interest rate risk is mitigated. We do not 
own derivative financial instruments. Accordingly, we do not believe that there is any material market risk exposure with 
respect to derivative or other financial instruments. 

As a result of our ex-U.S. operations, we face exposure to movements in foreign currency exchange rates, including 
the British Pound, Euro, Brazilian Real, and Swiss Franc against the U.S. dollar. The current exposures arise primarily 
from  cash,  accounts  receivable,  intercompany  receivables  and  payables,  intercompany  loans  and  product  sales 
denominated in foreign currencies. Both positive and negative impacts to our international product sales from movements 
in  foreign  currency  exchange  rates  may  be  partially  mitigated  by  the  natural,  opposite  impact  that  foreign  currency 
exchange  rates  have  on  our  international  operating  expenses.  For  the year  ended  December 31,  2023,  we  recognized 
realized  foreign  currency  transaction  losses,  net,  of  $2.7  million,  which  is  recorded  within  other  income,  net  on  the 
Statement of Operations. A hypothetical ten percent increase or decrease in the exchange rate between the U.S. dollar and 
the British Pound, Euro, Brazilian Real, or Swiss Franc from the December 31, 2023 rate would not have a significant 
impact on our cash flows. We are not currently engaged in any foreign currency hedging activities. We will evaluate the 
use of derivative financial instruments to hedge our exposure as the needs and risks should arise. 

In September 2019, we issued $287.5 million of 1.50% convertible senior notes due September 15, 2026, or the 2026 
Convertible Notes. We do not have economic interest rate exposure on the 2026 Convertible Notes as they have a fixed 
annual interest rate of 1.50%. However, the fair value of the 2026 Convertible Notes is exposed to interest rate risk. We 
do not carry the 2026 Convertible Notes at fair value on our balance sheet but present the fair value of the principal amount 
for disclosure purposes. Generally, the fair value of the 2026 Convertible Notes will increase as interest rates fall and 
decrease as interest rates rise. The 2026 Convertible Notes are also affected by the price and volatility of our common 

136 

stock and will generally increase or decrease as the market price of our common stock changes. The estimated fair value 
of the 2026 Convertible Notes was approximately $265.3 million as of December 31, 2023. 

137 

 
 
Item 8.   Financial Statements and Supplementary Data 

Index to consolidated financial statements 

Report of Independent Registered Public Accounting Firm (PCAOB ID 42) 
Consolidated Balance Sheets as of December 31, 2023, and 2022 
Consolidated Statements of Operations for the years ended December 31, 2023, 2022, and 2021 
Consolidated Statements of Comprehensive Loss for the years ended December 31, 2023 2022, and 2021  
Consolidated Statements Stockholders’ Equity/ (Deficit) for the years ended December 31, 2023 2022, and 2021 
Consolidated Statements of Cash Flows for the years ended December 31, 2023 2022, and 2021 
Notes to Consolidated Financial Statements 

139
142
143
144
145
146
148

138 

 
 
 
 
Report of Independent Registered Public Accounting Firm 

To the Stockholders and the Board of Directors of PTC Therapeutics, Inc. 

Opinion on the Financial Statements  

We have audited the accompanying consolidated balance sheets of PTC Therapeutics, Inc. (the Company) as of 
December 31, 2023 and 2022, the related consolidated statements of operations, comprehensive loss, stockholders' 
(deficit)/equity and cash flows for each of the three years in the period ended December 31, 2023, and the related notes 
(collectively referred to as the “consolidated financial statements”). In our opinion, the consolidated financial statements 
present fairly, in all material respects, the financial position of the Company at December 31, 2023 and 2022, and the 
consolidated results of its operations and its cash flows for each of the three years in the period ended December 31, 
2023, in conformity with U.S. generally accepted accounting principles.  

We also have audited, in accordance with the standards of the Public Company Accounting Oversight Board (United 
States) (PCAOB), the Company's internal control over financial reporting as of December 31, 2023, based on criteria 
established in Internal Control-Integrated Framework issued by the Committee of Sponsoring Organizations of the 
Treadway Commission (2013 framework) and our report dated February 29, 2024 expressed an unqualified opinion 
thereon. 

Basis for Opinion  

These financial statements are the responsibility of the Company's management. Our responsibility is to express an 
opinion on the Company’s financial statements based on our audits. We are a public accounting firm registered with the 
PCAOB and are required to be independent with respect to the Company in accordance with the U.S. federal securities 
laws and the applicable rules and regulations of the Securities and Exchange Commission and the PCAOB.  

We conducted our audits in accordance with the standards of the PCAOB. Those standards require that we plan and 
perform the audit to obtain reasonable assurance about whether the financial statements are free of material 
misstatement, whether due to error or fraud. Our audits included performing procedures to assess the risks of material 
misstatement of the financial statements, whether due to error or fraud, and performing procedures that respond to those 
risks. Such procedures included examining, on a test basis, evidence regarding the amounts and disclosures in the 
financial statements. Our audits also included evaluating the accounting principles used and significant estimates made 
by management, as well as evaluating the overall presentation of the financial statements. We believe that our audits 
provide a reasonable basis for our opinion. 

Critical Audit Matters 

The critical audit matters communicated below are matters arising from the current period audit of the financial 
statements that were communicated or required to be communicated to the audit committee and that: (1) relate to 
accounts or disclosures that are material to the financial statements and (2) involved our especially challenging, 
subjective or complex judgments. The communication of critical audit matters does not alter in any way our opinion on 
the consolidated financial statements, taken as a whole, and we are not, by communicating the critical audit matters 
below, providing separate opinions on the critical audit matters or on the accounts or disclosures to which they relate. 

Description of 
the Matter 

Variable consideration in contracts with customers 
As discussed in Note 2 of the consolidated financial statements, the Company’s revenues for product 
sold to its customers within the United States reflect discounts mandated by the Medicaid Drug Rebate 
Program. The Company includes an estimate of this variable consideration in its transaction price at 
the time of sale when control of the product transfers to the customer. The Company uses the expected 
value or most likely amount method when estimating variable consideration, unless discount or rebate 
terms are specified within contracts. The estimates for variable consideration are adjusted to reflect 
known changes.  

139 

 
 
 
 
 
 
 
 
  
 
  
 
Auditing the amount of consideration to be paid under the Medicaid Drug Rebate Program (Medicaid) 
was complex and highly judgmental due to the interpretation of government rules, regulations, policy, 
and guidance under the government program. Management is responsible for complying with these 
rules and regulations. Governmental pricing calculations are complex as a result of interpretation of 
regulations and management’s policy impacting the average manufacturer price, which would result in 
an impact to the best price and the unit rebate amount. The reductions to gross product revenues are 
sensitive to these significant estimates and calculations. 

How We 
Addressed the 
Matter in Our 
Audit 

We identified, evaluated and tested controls over management’s review of the calculated reductions to 
gross product prices related to Medicaid and the significant assumptions and data inputs utilized in the 
calculations. 

To test the revenue adjustments related to Medicaid our audit procedures included, among others, 
evaluating the methodology used as well as testing the significant estimates discussed above and the 
underlying assumptions and data used by the Company in its analysis. We evaluated pricing 
adjustments recorded in the current period and assessed the historical accuracy of management’s 
estimates against actual results. In addition, we involved an internal governmental pricing specialist to 
assist with our evaluation of management’s methodology and the calculations made to measure the 
estimated Medicaid rebates.  

Description of 
the Matter 

Valuation of acquisition-related contingent consideration liability 
As discussed in Note 2 and Note 3 to the consolidated financial statements under the respective 
captions “Business combinations and asset acquisitions,” and “Level 3 valuation” the Company 
recognizes contingent consideration liabilities at their estimated fair values on the acquisition date.  
Subsequent changes to the fair values of the contingent consideration liabilities are recorded within the 
consolidated statement of operations in the period of change.  At December 31, 2023, the Company 
recorded $36.3 million in total contingent consideration liabilities related to development, regulatory 
and net sales milestones.  

The fair value of the contingent consideration is estimated utilizing a probability adjusted, discounted 
cash flow approach, as well as a valuation framework that estimates net sales volatility to simulate a 
range of possible payment scenarios. Certain assumptions, including development timelines, 
probabilities of success, and certain inputs to the weighted average cost of capital are highly subjective 
and the fair value estimate is sensitive to these assumptions.  Auditing the valuation of contingent 
consideration liabilities was complex and required significant auditor judgment due to the high degree 
of subjectivity in evaluating these assumptions and the method used for the calculation. 

How We 
Addressed the 
Matter in Our 
Audit 

We obtained an understanding, evaluated the design and tested the operating effectiveness of controls 
over the Company’s contingent consideration liabilities process including management’s process to 
establish the significant assumptions and measure the liability.  

To test the estimated fair value of the contingent consideration liabilities, our audit procedures 
included, among others, assessing the fair value methodology and testing the significant assumptions 
discussed above and the underlying data used in management’s analyses.  We evaluated the 
assumptions and judgments in light of observable industry and economic trends and standards, external
data sources and regulatory factors.  Estimated amounts of future sales and probabilities of achieving 
milestones were evaluated in relation to internal and external analyses, clinical development progress 
and timelines, probability of success benchmarks, and regulatory notices.  Additionally, we compared 
the weighted average cost of capital that was adjusted for the Company’s credit risk, to those of 
comparable guideline companies. Our procedures also included evaluating the data sources used by 
management in determining its assumptions and, where necessary, included an evaluation of available 
information that either corroborated or contradicted management’s conclusions.  We involved 
valuation specialists to assist with our assessment of the Company’s fair value measurement 
methodology and to perform corroborative fair value calculations.  

140 

 
 
 
 
 
  
 
 
 
 
  
  
 
/s/ Ernst & Young LLP 

We have served as the Company’s auditor since 2010. 

Iselin, New Jersey 

February 29, 2024 

141 

 
 
 
 
 
 
 
 
 
PTC Therapeutics, Inc. 

Consolidated Balance Sheets 

In thousands, except shares 

Assets 
Current assets: 

Cash and cash equivalents 
Marketable securities 
Trade and royalty receivables, net 
Inventory, net 
Prepaid expenses and other current assets 

Total current assets 
Fixed assets, net 
Intangible assets, net 
Goodwill 
Operating lease ROU assets 
Deposits and other assets 
Total assets 
Liabilities and stockholders’ deficit 
Current liabilities: 

Accounts payable and accrued expenses 
Deferred revenue 
Operating lease liabilities- current 
Finance lease liabilities- current 
Liability for sale of future royalties- current 

Total current liabilities 
Long-term debt 
Contingent consideration payable 
Deferred tax liability 
Operating lease liabilities- noncurrent 
Finance lease liabilities- noncurrent 
Liability for sale of future royalties- noncurrent 
Other long-term liabilities 
Total liabilities 
Stockholders’ deficit: 

Common stock, $0.001 par value. Authorized 250,000,000 shares; issued 
and outstanding 75,708,889 shares at December 31, 2023. Authorized 
250,000,000 shares; issued and outstanding 73,104,692 shares at 
December 31, 2022. 
Additional paid-in capital 
Accumulated other comprehensive (loss) income 
Accumulated deficit 

Total stockholders’ deficit 
Total liabilities and stockholders’ deficit 

December 31,  

2023 

2022 

 594,001   $ 
 282,738  
 160,822  
 30,577  
 150,491  
 1,218,629  
 87,089  
 379,497  
 82,341  
 91,896  
 36,246  
 1,895,698   $ 

 391,983  
 801  
 13,002  
 3,000  
 194,314  
 603,100  
 284,213  
 36,300  
 55,905  
 97,627  
 17,184  
 1,619,783  
 141  
 2,714,253  

 279,834 
 130,871 
 155,614 
 21,808 
 105,658 
 693,785 
 72,590 
 705,891 
 82,341 
 102,430 
 48,582 
 1,705,619 

 320,366 
 1,351 
 9,370 
 3,000 
 72,149 
 406,236 
 571,722 
 164,000 
 102,834 
 100,860 
 18,675 
 685,737 
 2,641 
 2,052,705 

 75  
 2,466,233  
 (1,285) 
 (3,283,578) 
 (818,555) 
 1,895,698   $ 

 72 
 2,305,020 
 4,796 
 (2,656,974)
 (347,086)
 1,705,619 

 $ 

 $ 

 $ 

See accompanying consolidated notes. 

142 

 
 
 
 
 
 
 
 
 
 
 
 
 
      
     
 
    
 
   
     
    
  
 
 
   
  
 
   
  
 
   
  
 
   
  
 
   
  
 
   
  
 
   
  
 
   
  
 
  
 
 
   
  
 
 
   
   
  
  
 
   
   
  
  
 
   
  
 
   
  
 
  
 
 
  
 
 
  
 
 
   
  
 
   
  
 
   
  
 
   
  
 
  
 
 
  
 
 
  
 
 
  
 
 
   
  
 
   
   
  
  
 
   
  
 
   
  
 
   
  
 
   
  
 
   
  
 
 
PTC Therapeutics, Inc. 

Consolidated Statements of Operations 

In thousands, except shares and per share data 

Revenues: 

Net product revenue 
Collaboration revenue 
Royalty revenue 
Manufacturing revenue  

Total revenues 
Operating expenses: 

Cost of product sales, excluding amortization of acquired intangible 
assets 
Amortization of acquired intangible assets 
Research and development 
Selling, general and administrative 
Change in the fair value of contingent consideration 
Intangible asset impairment 

Total operating expenses 
Loss from operations 
Interest expense, net 
Other income (expense), net 
Loss on extinguishment of debt 
Loss before income tax benefit (expense) 
Income tax benefit (expense) 
Net loss attributable to common stockholders 
Weighted-average shares outstanding: 
Basic and diluted (in shares) 
Net loss per share—basic and diluted (in dollars per share) 

Year ended December 31,  
2022 

2021 

2023 

 $

 661,249    $
 100,030   
 168,856   
 7,687   
 937,822   

 535,228    $
 50,052   
 113,521   
 —   
 698,801   

 428,904 
 55,046 
 54,643 
 — 
 538,593 

 65,486   
 222,635   
 666,563   
 332,540   
 (127,700) 
 217,800   
     1,377,324   
 (439,502) 
 (129,180) 
 10,130   
 (137,558) 
 (696,110) 
 69,506   

 32,328 
 54,751 
 540,684 
 285,773 
 (500) 
 — 
 913,036 
 (374,443) 
 (86,022) 
 (57,875) 
 — 
 (518,340) 
 (5,561) 
 $  (626,604)  $  (559,017)   $  (523,901) 

 44,678   
 116,554   
 651,496   
 325,998   
 (25,900)  
 33,384   
    1,146,210   
 (447,409)  
 (90,871)  
 (49,207)  
 —   
 (587,487)  
 28,470   

    74,838,392   
 $

 (8.37)  $

   71,728,634   

   70,466,393 
 (7.43) 

 (7.79)   $

See accompanying consolidated notes. 

143 

 
 
 
  
 
 
 
 
 
 
 
 
 
 
 
      
     
    
     
      
       
   
 
 
   
  
  
 
  
 
 
 
  
 
 
 
   
  
  
 
  
 
 
  
 
 
 
   
  
  
 
  
  
  
 
   
  
  
 
   
  
  
 
   
  
  
 
  
 
 
 
  
 
   
  
  
 
  
  
  
 
   
  
  
 
  
 
 
 
   
  
  
 
   
  
  
 
 
  
 
 
  
 
 
 
 
 
 
 
PTC Therapeutics, Inc. 

Consolidated Statements of Comprehensive Loss 

In thousands 

Year ended December 31, 
2022 
 $ (626,604)  $ (559,017)  $ (523,901)

2021 

2023 

 820   
 (6,901) 

 (2,502)
 39,177 
 $ (632,685)  $ (529,939)  $ (487,226)

 108   
 28,970   

Net loss 
Other comprehensive income (loss): 

Unrealized gain (loss) on marketable securities, net of tax  
Foreign currency translation (loss) gain, net of tax  

Comprehensive loss 

See accompanying consolidated notes. 

144 

 
 
 
  
 
 
 
 
 
 
 
 
 
 
 
      
     
     
 
 
   
   
  
   
  
  
 
   
  
  
 
   
  
  
 
 
 
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1

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
  
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
PTC Therapeutics, Inc. 

Consolidated Statements of Cash Flows 

In thousands 

Cash flows from operating activities 
Net loss 
Adjustments to reconcile net loss to net cash used in operating activities: 

Depreciation and amortization 
Non-cash operating lease expense 
Non-cash royalty revenue related to sale of future royalties 
Non-cash interest expense on liability related to sale of future royalties 
Intangible asset impairment  
Change in valuation of contingent consideration 
Unrealized loss on ClearPoint Equity Investments 
Unrealized loss on ClearPoint convertible debt security 
Realized loss for the sale of Clearpoint Equity Investment 
Realized gain on redemption of marketable securities- equity investments 
Unrealized (gain) loss on marketable securities- equity investments 
Non-cash stock consideration, milestone payment 
Disposal of asset 
Deferred income taxes  
Amortization of (discounts) premiums on investments, net 
Amortization of debt issuance costs 
Loss on extinguishment of debt 
Share-based compensation expense 
Unrealized foreign currency transaction (gains) losses, net 
Non-cash foreign currency remeasurement loss on intercompany loan 

Inventory, net 
Prepaid expenses and other current assets 
Trade and royalty receivables, net 
Deposits and other assets 
Accounts payable and accrued expenses 
Other liabilities 
Deferred revenue 
Payments on contingent consideration 

Net cash used in operating activities 
Cash flows from investing activities 
Purchases of fixed assets 
Purchases of marketable securities- available for sale 
Purchases of marketable securities- equity investments 
Sale and redemption of marketable securities- available for sale 
Sale and redemption of marketable securities- equity investments 
Sale and redemption of ClearPoint Equity Investments 
Acquisition of product rights and licenses 
Purchase of equity investment in Clearpoint 
Net cash (used in) provided by investing activities 
Cash flows from financing activities 
Proceeds from exercise of options 
Repayment of senior secured term loan 
Debt extinguishment costs related to senior secured term loan  
Cash consideration received from A&R Royalty Purchase Agreement 
Debt issuance costs related to senior secured term loan 
Proceeds from issuance of senior secured term loan 
Repayment of Convertible Notes 
Payments on deferred and contingent consideration obligation 
Proceeds from employee stock purchase plan 
Payment of finance lease principal 
Proceeds from stock purchase agreement  
Net cash provided by financing activities 
Effect of exchange rate changes on cash 
Net increase (decrease) in cash and cash equivalents 
Cash and cash equivalents, and restricted cash beginning of period 
Cash and cash equivalents, and restricted cash end of period 

2023 

Year ended December 31,  
2022 

2021 

  $ 

 (626,604)  

$ 

 (559,017) 

$ 

 (523,901)

 236,590   
 9,827   
 (93,460)  
 104,790   
 217,800   
 (127,700)  
 1,515   
 2,678   
 782   
 (4,383)  
 (2,517)  
 29,570   
 806   
 (46,930)  
 (2,200)  
 1,873   
 55,625   
 101,636   
 (14,113)  
 —   
 (8,183)  
 (44,992)  
 (1,539)  
 5,222   
 48,346   
 (2,307)  
 (550)  
 —   
 (158,418)  

 (28,438)  
 (174,086)  
 (38,398)  
 21,544   
 132,228   
 2,594   
 (92,181)  
 —   
 (176,737)  

 24,040   
 (300,000)  
 (81,933)  
 1,000,000   
 (282)  
 —   
 —   
 —   
 5,954   
 (1,379)  
 —   
 646,400   
 3,114   
 314,359   
 295,925   
 610,284   

$ 

 128,836   
 9,884   
 (48,738) 
 72,639   
 33,384   
 (25,900) 
 3,560   
 5,740   
 —   
 —   
 7,992   
 —   
 80   
 (34,276) 
 1,713   
 1,901   
 —   
 110,333   
 13,263   
 16,887   
 (6,668) 
 (51,621) 
 (48,468) 
 (2,913) 
 27,542   
 (4,558) 
 1,351   
 (9,600) 
 (356,654) 

 (32,016) 
 (52,764) 
 (22,787) 
 405,234   
 112,958   
 —   
 (120,444) 
 —   
 290,181   

 14,632   
 —   
 —   
 —   
 (11,454) 
 300,000   
 (150,000) 
 (40,400) 
 6,450   
 (1,276) 
 50,000   
 167,952   
 (2,772) 
 98,707   
 197,218   
 295,925   

$ 

 64,134 
 7,386 
 (23,460)
 77,683 
 — 
 (500)
 6,078 
 8,281 
 — 
 — 
 (1,673)
 — 
 — 
 377 
 5,299 
 1,848 
 — 
 103,513 
 47,391 
 — 
 1,800 
 (15,310)
 (44,991)
 (232)
 45,659 
 (6,704)
 (4,010)
 — 
 (251,332)

 (28,213)
 (333,148)
 (210,018)
 843,498 
 4,281 
 — 
 (57,118)
 (100)
 219,182 

 17,309 
 — 
 — 
 — 
 — 
 — 
 — 
 — 
 5,792 
 (2,224)
 — 
 20,877 
 (7,821)
 (19,094)
 216,312 
 197,218 

  $ 

146 

 
 
 
 
 
 
 
 
     
 
     
     
 
   
  
 
 
 
  
 
 
    
    
  
   
  
  
 
    
  
  
 
    
  
  
 
   
 
 
 
   
 
 
 
   
 
 
 
    
  
  
 
    
  
  
 
   
 
 
 
   
 
 
 
   
 
 
 
   
 
 
 
   
 
 
 
   
 
 
 
   
 
 
 
    
  
  
 
    
  
  
 
   
 
 
 
    
  
  
 
    
  
  
 
   
 
 
 
    
  
  
 
    
  
  
 
    
  
  
 
    
  
  
 
    
  
  
 
    
  
  
 
    
  
  
 
   
 
 
 
   
 
  
 
    
  
  
 
  
  
 
    
  
  
 
   
 
 
 
   
 
 
 
   
 
 
 
   
 
 
 
   
 
 
 
   
 
 
 
   
 
 
 
   
  
  
 
    
  
  
 
  
 
    
  
  
 
    
  
  
 
    
  
  
 
    
  
  
 
   
 
 
 
    
  
  
 
    
  
  
 
   
 
 
 
   
 
 
 
   
 
 
 
   
 
 
 
    
  
  
 
    
  
  
 
    
  
  
 
    
  
  
 
Supplemental disclosure of cash information 
Cash paid for interest 
Cash paid for income taxes 
Supplemental disclosure of non-cash investing and financing activity 
Unrealized gain (loss) on marketable securities, net of tax 
Right-of-use assets obtained in exchange for operating lease obligations 
Acquisition of product rights and licenses 
Milestone payable  
Debt issuance costs related to senior secured term loan 
Capital expenditures unpaid at the end of the period 

  $ 
  $ 

  $ 
  $ 
  $ 
  $ 
  $ 
  $ 

 36,131   
 14,155   

 820   
 —   
 54,618   
 2,500   
 —   
 —   

$ 
$ 

$ 
$ 
$ 
$ 
$ 
$ 

 18,463   
 4,922   

 108   
 35,817   
 33,239   
 —   
 159   
 308   

$ 
$ 

$ 
$ 
$ 
$ 
$ 
$ 

 9,588 
 7,708 

 (2,502)
 645 
 22,294 
 — 
 — 
 — 

See accompanying consolidated notes. 

147 

 
    
  
  
 
  
 
 
 
    
    
  
   
  
  
 
 
 
 
 
 
 
 
 
PTC Therapeutics, Inc. 

Notes to consolidated financial statements 

December 31, 2023 

(In thousands except share and per share amount) 

1. The Company 

PTC Therapeutics, Inc. (the “Company” or “PTC”) is a global biopharmaceutical company focused on the discovery, 
development  and  commercialization  of  clinically  differentiated  medicines  that  provide  benefits  to  patients  with  rare 
disorders. PTC’s ability to innovate to identify new therapies and to globally commercialize products is the foundation 
that drives investment in a robust and diversified pipeline of transformative medicines. PTC’s mission is to provide access 
to best-in-class treatments for patients who have little to no treatment options. PTC’s strategy is to leverage its strong 
scientific and clinical expertise and global commercial infrastructure to bring therapies to patients.  PTC believes that this 
allows it to maximize value for all of its stakeholders. 

The Company has two products, Translarna™ (ataluren) and Emflaza® (deflazacort), for the treatment of Duchenne 
muscular dystrophy (“DMD”), a rare, life threatening disorder. Translarna has marketing authorization in the European 
Economic  Area  (the  “EEA”)  for  the  treatment  of  nonsense  mutation  Duchenne  muscular  dystrophy  (“nmDMD”)  in 
ambulatory patients aged 2 years and older. In July 2020, the European Commission (“EC”) approved the removal of the 
statement “efficacy has not been demonstrated in non-ambulatory patients” from the indication statement for Translarna. 
Translarna also has marketing authorization in Russia for the treatment of nmDMD in patients aged two years and older, 
and in Brazil for the treatment of nmDMD in ambulatory patients two years and older and for continued treatment of 
patients that become non-ambulatory, as well as in various other countries. Emflaza is approved in the United States for 
the treatment of DMD in patients two years and older. 

The Company’s marketing authorization for Translarna in the EEA is subject to annual review and renewal by the EC 
following  reassessment  by  the  European  Medicines  Agency  (“EMA”)  of  the  benefit-risk  balance  of  the  authorization, 
which the Company refers to as the annual EMA reassessment. In September 2022, the Company submitted a Type II 
variation  to  the  EMA  to  support  conversion  of  the  conditional  marketing  authorization  for  Translarna  to  a  standard 
marketing authorization, which included a report on the placebo-controlled trial of Study 041 and data from the open-label 
extension.  In  February  2023,  the  Company  also  submitted  an  annual  marketing  authorization  renewal  request  to  the 
EMA. In September 2023, the Committee for Medicinal Products for Human Use (“CHMP’), gave a negative opinion on 
the conversion of the conditional marketing authorization to full marketing authorization of Translarna for the treatment 
of nmDMD and a negative opinion on the renewal of the existing conditional marketing authorization of Translarna for 
the treatment of nmDMD. On January 25, 2024, the CHMP issued a negative opinion for the renewal of the conditional 
marketing authorization following a re-examination procedure. In accordance with EMA regulations, the EC has 67 days 
to adopt the opinion. If the EC adopts the negative opinion, Translarna would no longer have marketing authorization in 
the member states of the EEA. 

Translarna is an investigational new drug in the United States. Following the Company’s announcement of top-line 
results from the placebo-controlled trial of Study 041 in June 2022, the Company submitted a meeting request to the U.S. 
Food and Drug Administration (“FDA”) to gain clarity on the regulatory pathway for a potential re-submission of a New 
Drug Application (“NDA”) for Translarna. The FDA provided initial written feedback that Study 041 does not provide 
substantial evidence of effectiveness to support NDA re-submission. The Company held a Type C meeting with the FDA 
in the fourth quarter of 2023 to discuss the totality of Translarna data. Based on this discussion, the FDA suggested that 
the Company request a pre-submission Type C meeting to discuss the specific contents of an NDA resubmission based on 
results  from  Study  041  and  from  the  Company’s  international  drug  registry  study  for  nmDMD  patients  receiving 
Translarna. This meeting is scheduled for March 2024. 

The Company has developed Upstaza (eladocagene exuparvovec), a gene therapy used for the treatment of Aromatic 
L-Amino  Acid  Decarboxylase  (“AADC”)  deficiency  (“AADC  deficiency”),  a  rare  central  nervous  system  (“CNS”) 

148 

 
PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

disorder arising from reductions in the enzyme AADC that results from mutations in the dopa decarboxylase gene. In July 
2022, the EC approved Upstaza for the treatment of AADC deficiency for patients 18 months and older within the EEA. 
In November 2022, the Medicines and Healthcare Products Regulatory Agency approved Upstaza for the treatment of 
AADC deficiency for patients 18 months and older within the United Kingdom. The Company is also preparing a biologics 
license  application  (“BLA”)  for  Upstaza  for  the  treatment  of  AADC  deficiency  in  the  United  States  and  anticipates 
submitting a BLA to the FDA in March 2024. 

The Company holds the rights for the commercialization of Tegsedi® (inotersen) and Waylivra® (volanesorsen) for 
the treatment of rare diseases in countries in Latin America and the Caribbean pursuant to the Collaboration and License 
Agreement  (the  “Tegsedi-Waylivra  Agreement”),  dated  August  1,  2018,  by  and  between  the  Company  and  Akcea 
Therapeutics, Inc. (“Akcea”), a subsidiary of Ionis Pharmaceuticals, Inc. Tegsedi has received marketing authorization in 
the United States, the European Union (the “EU”) and Brazil for the treatment of stage 1 or stage 2 polyneuropathy in 
adult patients with hereditary transthyretin amyloidosis (“hATTR amyloidosis”). In August 2021, ANVISA, the Brazilian 
health regulatory authority, approved Waylivra as the first treatment for familial chylomicronemia syndrome (“FCS”) in 
Brazil.  In  December  2022,  ANVISA  approved  Waylivra  for  the  treatment  of  familial  partial  lipodystrophy  (“FPL”). 
Waylivra has also received marketing authorization in the EU for the treatment of FCS. 

The  Company  also  has  a  spinal  muscular  atrophy  (“SMA”)  collaboration  with  F.  Hoffman-La  Roche  Ltd  and 
Hoffman-La  Roche  Inc.  (referred  to  collectively  as  “Roche”)  and  the  Spinal  Muscular  Atrophy  Foundation  (“SMA 
Foundation”). The SMA program has one approved product, Evrysdi® (risdiplam), which was approved by the FDA in 
August 2020 for the treatment of SMA in adults and children two months and older and by the EC in March 2021 for the 
treatment of 5q SMA in patients two months and older with a clinical diagnosis of SMA Type 1, Type 2 or Type 3 or with 
one  to  four  SMN2  copies.  Evrysdi  has  also  received  marketing  authorization  for  the  treatment  of  SMA  in  over  100 
countries. In May 2022, the FDA approved a label expansion for Evrysdi to include infants under two months old with 
SMA. In August 2023, the EC approved an extension of the Evrysdi marketing authorization to include infants under two 
months old in the EU. 

One of the Company’s most advanced clinical stage molecules is sepiapterin. Sepiapterin is a precursor to intracellular 
tetrahydrobiopterin, which is a critical enzymatic cofactor involved in metabolism and synthesis of numerous metabolic 
products,  for  orphan  diseases.  In  May  2023,  the  Company  announced  that  the  primary  endpoint  was  achieved  in  its 
registration-directed Phase 3 trial for sepiapterin for phenylketonuria (“PKU”). The primary endpoint of the study was the 
achievement  of  statistically-significant  reduction  in blood Phe  level.  PTC  expects  to submit  a marketing  authorization 
application (“MAA”) to the EMA for sepiapterin for the treatment of PKU in the EEA in March 2024. Additionally, the 
Company participated in a pre-NDA meeting with the FDA in the third quarter of 2023. At that meeting, the FDA stated 
that the sepiapterin clinical safety and efficacy data supported NDA submission for the treatment of pediatric and adult 
PKU  patients.  However,  the  FDA  has  requested  that  PTC  completes  a  26-week  nonclinical  mouse  study  to  assess 
sepiapterin carcinogenicity potential prior to NDA submission. Based on the timing to complete this study, PTC expects 
to submit an NDA to the FDA for sepiapterin for the treatment of PKU no later than the third quarter of 2024 and PTC 
intends to discuss with the FDA the potential for an earlier submission if PTC is permitted to submit the 26-week mouse 
study report during the NDA review.  

In addition to the Company’s SMA program, the Company’s splicing platform also includes PTC518, which is being 
developed for the treatment of Huntington’s disease (“HD”). The Company initiated a Phase 2 study of PTC518 for the 
treatment of HD in the first quarter of 2022, which consists of an initial 12-week placebo-controlled phase focused on 
safety,  pharmacology  and  pharmacodynamic  effects  followed  by  a  nine-month  placebo-controlled  phase  focused  on 
PTC518 biomarker effect. In June 2023, the Company announced interim data from the 12-week placebo-controlled phase. 
The Phase 2 study is actively ongoing outside the United States, while it has been paused within the United States as the 

149 

PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

FDA requested additional data to allow the Phase 2 study to proceed. The Company expects results from the 12-month 
interim data from the Phase 2 study of PTC518 for the treatment of HD in the second quarter of 2024. The Company 
expects to submit a safety data update to the FDA in the second quarter of 2024 to support lifting of the partial clinical 
hold on the program.  

The  Company’s  ferroptosis  and  inflammation  platform  consists  of  small  molecule  compounds  that  target 
oxidoreductase enzymes that regulate oxidative stress and inflammatory pathways central to the pathology of a number of 
CNS diseases. The two most advanced molecules in the Company’s ferroptosis and inflammation platform are vatiquinone 
and  utreloxastat.  The  Company  announced  topline  results  from  a  registration-directed  Phase  3  trial  of  vatiquinone  in 
children and young adults with Friedreich ataxia, called MOVE-FA, in May 2023. While the study did not meet its primary 
endpoint, vatiquinone treatment did demonstrate significant benefit on key disease subscales, including the upright stability 
subscale, as well as on other disease relevant endpoints. In the first quarter of 2024, the Company met with the FDA, who 
expressed willingness to review an NDA for vatiquinone for the treatment of Friedreich ataxia based on the MOVE-FA 
trial as well as data from the ongoing open label extension study following the MOVE-FA trial, potentially allowing for 
the submission of an NDA in late 2024. In the first quarter of 2024, the Company also received scientific advice from the 
EMA on the MOVE-FA trial results, in which the EMA stated that the MOVE-FA data would likely not be sufficient for 
conditional authorization. The Company initiated a Phase 2 registration directed trial of utreloxastat for amyotrophic lateral 
sclerosis, or ALS, in the first quarter of 2022. The Company expect topline results from this trial in the fourth quarter of 
2024. 

In addition, the Company has a pipeline of product candidates and discovery programs that are in early clinical, pre-
clinical and research and development stages focused on the development of new treatments for multiple therapeutic areas 
for rare diseases. 

As of December 31, 2023, the Company had an accumulated deficit of approximately $3,283.6 million. The Company 
has financed its operations to date primarily through the private offerings of convertible senior notes (see Note 7), public 
and “at the market offerings” of common stock, proceeds from royalty purchase agreements (see Note 2), net proceeds 
from its borrowings under its credit agreement with Blackstone (see Note 7), private placements of its convertible preferred 
stock  and  common  stock,  collaborations,  bank  and  institutional  lender  debt,  other  convertible  debt,  grant  funding  and 
clinical trial support from governmental and philanthropic organizations and patient advocacy groups in the disease area 
addressed by the Company’s product candidates. The Company has also relied on revenue generated from net sales of 
Translarna for the treatment of nmDMD in territories outside of the United States since 2014, Emflaza for the treatment 
of DMD in the United States since 2017 and Upstaza for the treatment of AADC deficiency in the EEA since May 2022. 
The Company has also relied on revenue associated with milestone and royalty payments from Roche pursuant to the 
License and Collaboration Agreement (the “SMA License Agreement”) dated as of November 23, 2011, by and among 
the Company, Roche and, for the limited purposes set forth therein, the SMA Foundation, under its SMA program. The 
Company expects that cash flows from the sales of its products, together with the Company’s cash, cash equivalents and 
marketable securities, will be sufficient to fund its operations for at least the next twelve months. 

2. Summary of significant accounting policies 

Basis of presentation 

The accompanying consolidated financial statements have been prepared in accordance with U.S. generally accepted 
accounting principles (“GAAP”) and include all adjustments necessary for the fair presentation of the Company’s financial 
position for the periods presented.  

150 

PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

Use of estimates 

The  preparation  of  financial  statements  in  conformity  with  GAAP  requires  management  to  make  estimates  and 
assumptions that affect the amounts reported in the financial statements and accompanying notes. Significant estimates in 
these consolidated financial statements have been made in connection with the calculation of net product sales, royalty 
revenue, certain accruals related to the Company’s research and development expenses, valuation procedures for liability 
for sale of future royalties, indefinite lived intangible assets annual impairment assessment, fair value of the contingent 
consideration, and the provision for or benefit from income taxes. Actual results could differ from those estimates. Changes 
in estimates are reflected in reported results in the period in which they become known. 

Restricted Cash 

Restricted cash included in deposits and other assets on the consolidated balance sheet relates to an unconditional, 
irrevocable and transferable letter of credit that was entered into during the twelve-month period ended December 31, 
2019 in connection with obligations under a facility lease for the Company’s leased biologics manufacturing facility in 
Hopewell Township, New Jersey. The amount of the letter of credit is $7.5 million, is to be maintained for a term of not 
less than five years and has the potential to be reduced to $3.8 million if after five years from the lease commencement the 
Company is not in default of its lease. Restricted cash also contains an unconditional, irrevocable and transferable letter 
of credit that was entered into during June 2022 in connection with obligations for the Company’s new facility lease in 
Warren, New Jersey. The amount of the letter of credit is $8.1 million and has the potential to be reduced to $4.1 million 
if after five years the Company is not in default of its lease. Both amounts are classified within deposits and other assets 
on the consolidated balance sheet due to the long-term nature of the letter of credit. Restricted cash also includes a bank 
guarantee of $0.6 million denominated in a foreign currency.   

The  following  table  provides  a  reconciliation  of  cash,  cash  equivalents,  and  restricted  cash  reported  within  the 

consolidated balance sheet that sum to the total of the same amounts shown in the statement of cash flows: 

Cash and cash equivalents 
Restricted cash included in deposits and other assets  
Total Cash, cash equivalents and restricted cash per statement of cash flows 

  $ 

  $ 

Consolidation 

End of 
period- 

   December 31,     

        Beginning of 

2023 
 594,001    $ 
 16,283   
 610,284    $ 

period- 
December 31,  
2022 
 279,834 
 16,091 
 295,925 

The  consolidated  financial  statements  include  the  accounts  of  PTC  Therapeutics, Inc.  and  its  wholly  owned 

subsidiaries. All inter-company accounts, transactions, and profits have been eliminated in consolidation. 

Segment and geographic information 

Operating segments are defined as components of an enterprise about which separate discrete information is available 
for evaluation by the chief operating decision maker, or decision making group, in deciding how to allocate resources and 
in assessing performance. The Company views its operations and manages its business in one operating and reporting 
segment. 

151 

 
 
 
 
 
 
 
 
 
     
 
  
  
 
 
  
 
 
  
  
 
PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

Cash equivalents 

The Company considers all highly liquid investments with a maturity of 90 days or less at the time of purchase to be 

cash equivalents. Cash equivalents are carried at cost which approximates fair value due to their short-term nature. 

Marketable securities 

The Company’s marketable securities consists of both debt securities and equity investments. The Company considers 
its  investments  in  debt  securities  with  original  maturities  of  greater  than  90 days  to  be  available  for  sale  securities. 
Securities under this classification are recorded at fair value and unrealized gains and losses within accumulated other 
comprehensive income. The estimated fair value of the available for sale securities is determined based on quoted market 
prices or rates for similar instruments. In addition, the cost of debt securities in this category is adjusted for amortization 
of premium and accretion of discount to maturity. For available for sale debt securities in an unrealized loss position, the 
Company assesses whether it intends to sell or if it is more likely than not that the Company will be required to sell the 
security before recovery of its amortized cost basis. If either of the criteria regarding intent or requirement to sell is met, 
the security’s amortized cost basis is written down to fair value. If the criteria are not met, the Company evaluates whether 
the decline in fair value has resulted from a credit loss or other factors. In making this assessment, management considers, 
among other factors, the extent to which fair value is less than amortized cost, any changes to the rating of the security by 
a rating agency, and adverse conditions specifically related to the security. If this assessment indicates that a credit loss 
exists, the present value of cash flows expected to be collected from the security are compared to the amortized cost basis 
of the security. If the present value of the cash flows expected to be collected is less than the amortized cost basis, a credit 
loss exists and an allowance for credit losses is recorded for the credit loss, limited by the amount that the fair value is less 
than  the  amortized  costs  basis.  Any  impairment  that  has  not  been  recorded  through  an  allowance  for  credit  losses  is 
recognized in other comprehensive income. For the years ended December 31, 2023 and 2022, no allowance was recorded 
for credit losses. 

Marketable securities that are equity investments are measured at fair value, as it is readily available, and as such are 
classified as Level 1 assets. Unrealized holding gains and losses for these equity investments are components of other 
income (expense), net within the consolidated statement of operations. 

Concentration of credit risk 

The Company’s financial instruments that are exposed to credit risks consist primarily of cash and cash equivalents, 
available-for-sale marketable securities and accounts receivable. The Company maintains its cash and cash equivalents in 
bank accounts, which, at times, exceed federally insured limits. The Company has not experienced any credit losses in 
these accounts and does not believe it is exposed to any significant credit risk on these funds. The Company’s investment 
policy includes guidelines on the quality of the financial institutions and financial instruments the Company is allowed to 
invest in, which the Company believes minimizes the exposure to concentration of credit risk. 

The Company is subject to credit risk from its accounts receivable related to its product sales. The payment terms are 
predetermined and the Company evaluates the creditworthiness of each customer or distributor on a regular basis. The 
Company reserves all uninsured amounts billed directly to a patient until the time of cash receipt as collectability is not 
reasonably assured at the time the product is received. To date, the Company has not incurred any material credit losses. 

152 

PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

Fixed assets 

Fixed assets are stated at cost. Depreciation is computed starting when the asset is placed into service on a straight-

line basis over the estimated useful life of the related asset as follows: 

Leasehold improvements 
Computer equipment and software 
Machinery and lab equipment 
Furniture and fixtures 

Inventory and cost of product sales 

Inventory 

    Lesser of useful life or lease term 
  3 years 
  7 years 
  7 years 

Inventories are stated at the lower of cost and net realizable value with cost determined on a first-in, first-out basis by 
product. The Company capitalizes inventory costs associated with products following regulatory approval when future 
commercialization is considered probable and the future economic benefit is expected to be realized. Products which may 
be used in clinical development programs are included in inventory and charged to research and development expense 
when  the  product  enters  the  research  and  development  process  and  no  longer  can  be  used  for  commercial  purposes. 
Inventory used for marketing efforts are charged to selling, general and administrative expense. Amounts related to clinical 
development programs and marketing efforts are immaterial. 

The following table summarizes the components of the Company’s inventory for the periods indicated: 

Raw materials 
Work in progress 
Finished goods 
Total inventory 

     December 31, 2023      December 31, 2022 
 1,078 
 952    $ 
  $ 
 14,074 
 6,656 
 21,808 

 17,991   
 11,634   
 30,577    $ 

  $ 

The Company periodically reviews its inventories for excess amounts or obsolescence and writes down obsolete or 
otherwise  unmarketable  inventory  to  its  estimated  net  realizable  value.  The  Company  recorded  write  downs  of  $12.5 
million and $1.7 million for the years ended December 31, 2023 and 2022, respectively, primarily related to adjustments 
to inventory reserves and product approaching expiration. Additionally, though the Company’s product is subject to strict 
quality  control  and  monitoring  which  it  performs  throughout  the  manufacturing  processes,  certain  batches  or  units  of 
product may not meet quality specifications resulting in a charge to cost of product sales. For the years ended December 31, 
2023 and December 31, 2022, these amounts were immaterial. 

Cost of product sales 

Cost  of  product  sales  consists  of  the  cost  of  inventory  sold,  manufacturing  and  supply  chain  costs,  storage  costs, 
amortization of the acquired intangible asset, royalty payments associated with net product sales, and royalty payments to 
collaborative partners associated with royalty revenues and collaboration revenue related to milestones. Production costs 
are expensed as cost of product sales when the related products are sold or royalty revenues and collaboration revenue 
milestones are earned. 

153 

 
 
 
 
 
 
 
 
 
 
 
  
  
 
  
  
 
PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

Accumulated other comprehensive income (loss) 

Accumulated other comprehensive income (loss) consists of unrealized gains or losses on marketable securities and 

foreign currency translation adjustments. 

Revenue recognition 

Net product revenue 

The Company’s net product revenue primarily consists of sales of Translarna in territories outside of the U.S. for the 
treatment of nmDMD and sales of Emflaza in the U.S. for the treatment of DMD. The Company recognizes revenue when 
its performance obligations with its customers have been satisfied. The Company’s performance obligations are to provide 
products based on customer orders from distributors, hospitals, specialty pharmacies or retail pharmacies. The performance 
obligations are satisfied at a point in time when the Company’s customer obtains control of the product, which is typically 
upon  delivery.  The  Company  invoices  its  customers  after  the  products  have  been  delivered  and  invoice  payments  are 
generally due within 30 to 90 days of the invoice date. The Company determines the transaction price based on fixed 
consideration in its contractual agreements. Contract liabilities arise in certain circumstances when consideration is due 
for goods the Company has yet to provide. As the Company has identified only one distinct performance obligation, the 
transaction  price  is  allocated  entirely  to  product  sales.  In  determining  the  transaction  price,  a  significant  financing 
component does not exist since the timing from when the Company delivers product to when the customers pay for the 
product  is  typically  less  than  one year.  Customers  in  certain  countries  pay  in  advance  of  product  delivery.  In  those 
instances, payment and delivery typically occur in the same month. 

The Company records product sales net of any variable consideration, which includes discounts, allowances, rebates 
related to Medicaid and other government pricing programs, and distribution fees. The Company uses the expected value 
or most likely amount method when estimating its variable consideration, unless discount or rebate terms are specified 
within contracts. The identified variable consideration is recorded as a reduction of revenue at the time revenues from 
product sales are recognized. These estimates for variable consideration are adjusted to reflect known changes in factors 
and may impact such estimates in the quarter those changes are known. Revenue recognized does not include amounts of 
variable consideration that are constrained.  

During  the  years  ended  December 31,  2023,  2022,  and  2021,  net  product  sales  in  the  United  States  were  $255.1 
million,  $218.3  million,  and  $187.3  million,  respectively,  consisting  solely  of  sales  of  Emflaza,  and  net  product  sales 
outside of the United States were $406.1 million, $316.9 million, and $241.6 million respectively, consisting of sales of 
Translarna, Tegsedi, Waylivra, and Upstaza. Translarna net product revenues made up $355.8 million, $288.6 million, and 
$236.0 million of the net product sales outside of the United States for the years ended December 31, 2023, 2022, and 
2021, respectively. During the years ended December 31, 2023 and 2022, two countries, the United States and Russia, 
accounted for at least 10% of the Company’s net product sales, representing $255.1 million and $86.0 million, and $218.3 
million and $59.7 million of net product sales, respectively. During the year ended December 31, 2021, only the United 
States accounted for at least 10% of the Company’s net product sales. 

In relation to customer contracts, the Company incurs costs to fulfill a contract but does not incur costs to obtain a 
contract.  These  costs  to  fulfill  a  contract  do  not  meet  the  criteria  for  capitalization  and  are  expensed  as  incurred.  The 
Company considers any shipping and handling costs that are incurred after the customer has obtained control of the product 
as  a  cost  to  fulfill  a  promise.  Shipping  and  handling  costs  associated  with  finished  goods  delivered  to  customers  are 
recorded as a selling expense. 

154 

PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

Collaboration and royalty revenue 

The  terms  of  these  agreements  typically  include  payments  to  the  Company  of  one  or  more  of  the  following: 
nonrefundable,  upfront  license  fees;  milestone  payments;  research  funding  and  royalties  on  future  product  sales.  In 
addition,  the  Company  generates  service  revenue  through  agreements  that  generally  provide  for  fees  for  research  and 
development services and may include additional payments upon achievement of specified events.  

At the inception of a collaboration arrangement, the Company needs to first evaluate if the arrangement meets the 
criteria  in  Financial  Accounting  Standards  Board  (“FASB”)  Accounting  Standards  Codification  (“ASC”)  Topic  808 
“Collaborative Arrangements” to then determine if ASC Topic 606 is applicable by considering whether the collaborator 
meets the definition of a customer. If the criteria are met, the Company assesses the promises in the arrangement to identify 
distinct performance obligations. 

For licenses of intellectual property, the Company assesses, at contract inception, whether the intellectual property is 
distinct  from  other  performance  obligations  identified  in  the  arrangement.  If  the  licensing  of  intellectual  property  is 
determined to be distinct, revenue is recognized for nonrefundable, upfront license fees when the license is transferred to 
the customer and the customer can use and benefit from the license. If the licensing of intellectual property is determined 
not to be distinct, then the license will be bundled with other promises in the arrangement into one distinct performance 
obligation. The Company needs to determine if the bundled performance obligation is satisfied over time or at a point in 
time. If the Company concludes that the nonrefundable, upfront license fees will be recognized over time, the Company 
will need to assess the appropriate method of measuring proportional performance. 

For  milestone  payments,  the  Company  assesses,  at  contract  inception,  whether  the  development  or  sales-based 
milestones are considered probable of being achieved. If it is probable that a significant revenue reversal will occur, the 
Company will not record revenue until the uncertainty has been resolved. Milestone payments that are contingent upon 
regulatory  approval  are  not  considered  probable  of  being  achieved  until  the  applicable  regulatory  approvals  or  other 
external conditions are obtained as such conditions are not within the Company’s control. If it is probable that a significant 
revenue reversal will not occur, the Company will estimate the milestone payments using the most likely amount method. 
The Company will re-assess the development and sales-based milestones each reporting period to determine the probability 
of achievement. The Company recognizes royalties from product sales at the later of when the related sales occur or when 
the performance obligation to which the royalty has been allocated has been satisfied. If it is probable that a significant 
revenue reversal will not occur, the Company will estimate the royalty payments using the most likely amount method. 

The  Company  recognizes  revenue  for  reimbursements  of  research  and  development  costs  under  collaboration 
agreements as the services are performed. The Company records these reimbursements as revenue and not as a reduction 
of  research  and  development  expenses  as  the  Company  has  the  risks  and  rewards  as  the  principal  in  the  research  and 
development activities. 

For the years ended December 31, 2023, 2022, and 2021, the Company has recognized $100.0 million, $50.1 million, 

and $55.0 million of collaboration revenue, respectively, related to the SMA License Agreement with Roche.  

For the years ended December 31, 2023, 2022 and 2021, the Company has recognized $168.9 million, $113.5 million, 

and $54.6 million of royalty revenue, respectively, related to Evrysdi.  

Manufacturing Revenue 

155 

 
PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

The Company has manufacturing services related to the production of plasmid deoxyribonucleic acid (“DNA”) and 
adeno-associated virus (“AAV”) vectors for gene therapy applications for external customers. Performance obligations 
vary  but  may  include  manufacturing  plasmid  DNA  and/or  AAV  vectors,  material  testing,  stability  studies,  and  other 
services related to material development. The transaction prices for these arrangements are fixed and include amounts 
stated in the contracts for each promised service. Typically, the performance obligations within a manufacturing contract 
are  highly  interdependent,  in  which  case,  the  Company  will  combine  them  into  a  single  performance  obligation.  The 
Company  has  determined  that  the  assets  created  have  no  alternative  use  to  the  Company,  and  the  Company  has  an 
enforceable  right  to  payment  for  the  performance  completed  to  date,  therefore  revenue  related  to  these  services  are 
recognized  over  time  and  is  measured  using  an  output  method  based  on  performance  of  manufacturing  milestones 
completed to date. 

Manufacturing service contracts may also include performance obligations related to project management services or 
obtaining materials from third parties. The Company has determined that these are separate performance obligations for 
which  revenue  is  recognized  at  the  point  in  time  the  services  are  performed.  For  performance  obligations  related  to 
obtaining third party materials, the Company has determined that it is the principal as the Company has control of the 
materials and has discretion in setting the price. Therefore, the Company recognizes revenue on a gross basis related to 
obtaining third party materials. 

Certain arrangements require a portion of the contract consideration to be received in advance at the commencement 
of the contract, and such advance payment is initially recorded as a contract liability. A contract asset may be recognized 
in the event the Company’s satisfaction of performance obligations outpaces customer billings.  

For the year ended December 31, 2023, the Company recognized $7.7 million of manufacturing revenue related to 
plasmid DNA and AAV vector production for external customers. No manufacturing revenue was recognized for the years 
ended December 31, 2022 and 2021. As of December 31, 2023, the Company has contract assets of $0.2 million and 
remaining performance obligations of $0.8 million related to the production of plasmid DNA and AAV vectors for gene 
therapy  applications  for  external  customers.  For  the  period  ended  December  31,  2022,  the  Company  had  remaining 
performance obligations of $1.4 million and no contracts assets related to plasmid DNA and AAV production for external 
customers. 

Allowance for doubtful accounts 

The  Company  maintains  an  allowance  for  estimated  losses  resulting  from  the  inability  of  its  customers  to  make 
required payments. The Company estimates uncollectible amounts based upon current customer receivable balances, the 
age of customer receivable balances, the customer’s financial condition and current economic trends. The Company also 
assesses  whether  an  allowance  for  expected  credit  losses  may  be  required  which  includes  a  review  of  the  Company’s 
receivables portfolio, which are pooled on a customer basis or country basis.  In making its assessment of whether an 
allowance for credit losses is required, the Company considers its historical experience with customers, current balances, 
levels  of  delinquency,  regulatory  and  legal  environments,  and  other  relevant  current  and  future  forecasted  economic 
conditions. For the years ended December 31, 2023 and 2022, no allowance was recorded for credit losses. The allowance 
for doubtful accounts was $1.2 million as of December 31, 2023 and $0.3 million as of December 31, 2022. For the years 
ended December 31, 2023, 2022 and 2021, bad debt expense was $0.9 million, $0.2 million, and $0.1 million, respectively.  

Liability for sale of future royalties 

On July 17, 2020, the Company, RPI Intermediate Finance Trust (“RPI”), and, for the limited purposes set forth in 
the  agreement,  Royalty  Pharma  PLC,  entered  into  a  royalty  purchase  agreement  (the  “Original  Royalty  Purchase 

156 

 
 
 
 
PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

Agreement”).  Pursuant to the Original Royalty Purchase Agreement, the Company sold to RPI 42.933% (the “Original 
Assigned Royalty Rights”) of the Company’s right to receive sales-based royalty payments (the “Royalty”) on worldwide 
net sales of Evrysdi and any other product developed pursuant to the License and Collaboration Agreement (the “License 
Agreement”), dated as of November 23, 2011, by and among the Company, Roche and, for the limited purposes set forth 
therein, the SMA Foundation under the SMA program. In consideration for the sale of the Original Assigned Royalty 
Rights, RPI paid the Company $650.0 million in cash consideration. The Company has retained a 57.067% interest in the 
Royalty  and  all  economic rights  to receive the remaining potential  regulatory  and  sales  milestone payments under the 
License Agreement, which remaining milestone payments equal $150.0 million in the aggregate as of December 31, 2023. 
The Original Royalty Purchase Agreement was set to terminate 60 days following the earlier of the date on which Roche 
is no longer obligated to make any payments of the Royalty pursuant to the License Agreement and the date on which RPI 
has received $1.3 billion in respect of the Original Assigned Royalty Rights. 

Pursuant to the guidance in ASC 470-10-25-2, the Company determined that the $650.0 million cash consideration 
obtained pursuant to the Original Royalty Purchase Agreement should be classified as debt and recorded it as “liability for 
sale  of  future  royalties-current”  and  “liability  for  sale  of  future  royalties-noncurrent”  on  the  Company’s  consolidated 
balance sheet based on the timing of the expected payments to be made to RPI at the time of the transaction. The liability 
was subsequently amortized using the effective interest method over the life of the arrangement, in accordance with the 
respective guidance, utilizing the prospective method to account for subsequent changes in the estimated future payments 
to be made to RPI.   

On  October  18,  2023,  the  Company,  Royalty  Pharma  Investments  2019  ICAV  (“Royalty  Pharma”),  and,  for  the 
limited purposes set forth in the agreement, Royalty Pharma plc, entered into an Amended and Restated Royalty Purchase 
Agreement (the  “A&R  Royalty  Purchase Agreement”),  which  amends  and restates  in  its  entirety  the Original  Royalty 
Purchase  Agreement.   Pursuant  to  the  A&R  Royalty  Purchase  Agreement,  the  Company  has  sold  or  agreed  to  sell  to 
Royalty Pharma certain portions of the Company’s remaining Royalty on worldwide net sales of Evrysdi and any other 
product  (the  “Products”)  developed  pursuant  to  the  SMA  License  Agreement  (all  such  retained  Royalty  rights  of  the 
Company, the “Retained Royalty Rights,” and all such Royalty rights that are sold to Royalty Pharma pursuant to the A&R 
Royalty  Purchase  Agreement,  the  “A&R  Assigned  Royalty  Rights”).  At  closing,  Royalty  Pharma  paid  the  Company 
$1.0 billion  in  cash  consideration  for 38.0447%  of  the  Company’s  Retained  Royalty  Rights  (which  is  in  addition  to 
the 42.9330%  assigned  to  Royalty  Pharma  in  connection  with  the  Original  Royalty  Purchase  Agreement,  for  a  total 
of 80.9777% of the total Royalty) until such time as Royalty Pharma has received payments in respect of the Original 
Assigned Royalty Rights equal to $1.3 billion in the aggregate, and thereafter 66.6667% of the total Royalty. In addition, 
the Company may sell to Royalty Pharma the remainder of the Company’s Retained Royalty Rights in exchange for an 
aggregate of $500.0 million in additional cash consideration after the closing of the A&R Royalty Purchase Agreement, 
less royalties received in respect of the Retained Royalty Rights put to Royalty Pharma, which will be payable by Royalty 
Pharma pursuant to five put options held by the Company that are exercisable at the Company’s option between January 
1, 2024 and December 31, 2025. If the Company exercises two or fewer of the put options, Royalty Pharma may exercise 
a call option during the period from and after January 1, 2026 until and including March 31, 2026 for up to 50% of the 
remainder of the Company’s Retained Royalty Rights less amounts exercised by the Company via its put options at a 
purchase price that is proportional to the purchase price of the Company’s unexercised put options. Royalty Pharma’s 
exercise of the call option would result in Royalty Pharma owning 90.4888% of the total Royalty until such time as Royalty 
Pharma has received payments in respect of the Original Assigned Royalty Rights equal to $1.3 billion in the aggregate, 
and thereafter 83.3333% of the total Royalty. The A&R Royalty Purchase Agreement will terminate 60 days following 
the date on which Roche is no longer obligated to make any payments of the Royalty pursuant to the License Agreement.   

The change in rights and obligations from the A&R Royalty Purchase Agreement resulted in a change in the terms of 
the liability for sale of future royalties, which was evaluated by the Company in accordance with ASC 470-50, Debt — 

157 

 
 
PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

Modifications and Extinguishments. The Company determined that the present value of the cash flows under the A&R 
Royalty  Purchase  Agreement  were  substantially  different  from  the  present  value  of  the  cash  flows  under  the  Original 
Royalty Purchase Agreement. This resulted in the derecognition of the old liability for sale of future royalties and the new 
liability for sale of future royalties being recorded at fair value, which was determined to be $1,809.9 million as of the date 
of the A&R Royalty Purchase Agreement. This resulted in an extinguishment loss of $44.9 million, which was recorded 
within loss on extinguishment of debt, within the Company’s statement of operations. 

The fair value for the new liability for sale of future royalties on the date of the A&R Royalty Purchase Agreement 
was  based on the  Company’s  estimates  of future  royalties  expected  to be  paid  to  Royalty  Pharma  over  the  life  of  the 
arrangement, which was determined using forecasts from market data sources, which are considered Level 3 inputs. The 
liability is being amortized using the effective interest method over the life of the arrangement, in accordance with ASC 
470  and  ASC  835.  The  initial  annual  effective  interest  rate  was  determined  to  be 10.8%.  The  Company  utilizes  the 
prospective method to account for subsequent changes in the estimated future payments to be made to Royalty Pharma 
and updates the effective interest rate on a quarterly basis. Issuance costs related to the transaction were determined to be 
immaterial. Refer to Note 7 for further details. 

Leases 

The Company determines if an arrangement is a lease at inception. This determination generally depends on whether 
the arrangement conveys to the Company the right to control the use of an explicitly or implicitly identified fixed asset for 
a period of time in exchange for consideration. Control of an underlying asset is conveyed to the Company if the Company 
obtains the rights to direct the use of and to obtain substantially all of the economic benefits from using the underlying 
asset. The Company has lease agreements which include lease and non-lease components, which the Company accounts 
for as a single lease component for all leases. Operating and finance leases are classified as right of use ("ROU") assets, 
short term lease liabilities, and long term lease liabilities. Operating and finance lease ROU assets and lease liabilities are 
recognized at the commencement date based on the present value of lease payments over the lease term. ROU assets are 
amortized and lease liabilities accrete to yield straight-line expense over the term of the lease. Lease payments included in 
the measurement of the lease liability are comprised of fixed payments.  

Variable  lease  payments  associated  with  the  Company’s  leases  are  recognized  when  the  event,  activity,  or 
circumstance in the lease agreement on which those payments are assessed occurs. Variable lease payments are presented 
in the Company’s consolidated statements of operations in the same line item as expense arising from fixed lease payments 
for operating leases. 

Leases with an initial term of 12 months or less are not recorded on the consolidated balance sheet and the Company 
recognizes lease expense for these leases on a straight-line basis over the lease term. The Company applies this policy to 
all underlying asset categories. 

A lessee is required to discount its unpaid lease payments using the interest rate implicit in the lease or, if that rate 
cannot be readily determined, its incremental borrowing rate. As most of the Company’s leases do not provide an implicit 
rate, the Company uses its incremental borrowing rate based on the information available at the commencement date in 
determining the present value of lease payments. The Company gives consideration to its recent debt issuances as well as 
publicly available data for instruments with similar characteristics when calculating its incremental borrowing rates. 

The lease term for all of the Company’s leases includes the non-cancellable period of the lease plus any additional 
periods  covered by  either  a Company  option  to  extend (or  not  to  terminate)  the  lease  that  the  Company  is reasonably 

158 

 
 
PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

certain to exercise, or an option to extend (or not to terminate) the lease controlled by the lessor. Leasehold improvements 
are capitalized and depreciated over the lesser of useful life or lease term. See Note 5 Leases for additional information. 

 Research and development costs 

Research and development expenses include the clinical development costs associated with the Company’s product 
development programs and research and development costs associated with the Company’s discovery programs. These 
expenses include internal research and development costs and the costs of research and development conducted on behalf 
of the Company by third parties, including sponsored university-based research agreements and clinical study vendors. 
All research and development costs are expensed as incurred. Costs incurred in obtaining technology licenses are charged 
immediately to research and development expense if the technology licensed has not reached technological feasibility and 
has no alternative future uses. 

Advance payments made for goods and services that will be used in future research and development activities are 
deferred if the contracted party has not yet performed the related activities. The amount deferred is then expensed when 
the research and development activities are performed. As of December 31, 2023 and 2022, the short term deferred research 
and  development  advance  payments  were  $2.6  million  and  $2.4  million,  respectively,  and  are  classified  as  prepaid 
expenses and other current assets on the consolidated balance sheet. As of December 31, 2023 and 2022, the long term 
deferred research and development advance payments were $4.7 million and $3.9 million, respectively, and are classified 
as deposits and other assets on the consolidated balance sheet. 

Fair value of financial instruments 

The Company follows the fair value measurement rules, which provides guidance on the use of fair value in accounting 
and disclosure for assets and liabilities when such accounting and disclosure is called for by other accounting literature. 
These rules establish a fair value hierarchy for inputs to be used to measure fair value of financial assets and liabilities. 
This hierarchy prioritizes the inputs to valuation techniques used to measure fair value into three levels: Level 1 (highest 
priority), Level 2, and Level 3 (lowest priority). 

•  Level 1—Unadjusted quoted prices in active markets for identical assets or liabilities that the Company has the 

ability to access at the balance sheet date. 

•  Level 2—Inputs other than quoted prices included within Level 1 that are observable for the asset or liability, 
either directly or indirectly. Level 2 inputs include quoted prices for similar assets and liabilities in active markets, 
quoted prices for identical or similar assets or liabilities in markets that are not active, inputs other than quoted 
prices that are observable for the asset or liability (i.e., interest rates, yield curves, etc.), and inputs that are derived 
principally from or corroborated by observable market data by correlation or other means (market corroborated 
inputs). 

•  Level 3—Inputs are unobservable and reflect the Company’s assumptions as to what market participants would 
use in pricing the asset or liability. The Company develops these inputs based on the best information available. 

Cash equivalents, marketable securities, and equity investments are reflected in the accompanying financial statements 
at fair value. The carrying amount of receivables and accounts payable and accrued expenses approximates fair value due 
to the short-term nature of those instruments. 

159 

PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

Share-based compensation 

The Company measures the cost of employee services received in exchange for an award of equity instruments based 
on the grant date fair value of the award. Restricted stock awards are measured based on the fair market values of the 
underlying stock on the dates of grant. For service type awards, share-based compensation expense is recognized on a 
straight-line basis over the period during which the employee is required to provide service in exchange for the entire 
award.  

The fair value of options is calculated using the Black-Scholes option pricing model to determine the fair value of 
stock options on the date of grant based on key assumptions such as expected volatility and expected term. The Company 
estimates the expected volatility of options utilizing the Company’s historical stock volatility. The Company estimates the 
expected term of options utilizing the Company’s historical exercise data. The risk-free rate of the option is based on U.S. 
Government Securities Treasury Constant Maturities yields at the date of grant for a term similar to the expected term of 
the option. In connection with the adoption of FASB Accounting Standards Update (“ASU”) 2016-9, the Company made 
a policy election to continue its methodology for estimating its forfeiture rate. 

Stock-based compensation expense for performance stock units (“PSUs”) is determined using the grant date fair value, 
which is the quoted closing market price per share of the Company’s common stock on the Nasdaq Global Select Market 
on the grant date. Stock-based compensation expense for the PSUs will not be recognized until the achievement of the 
performance  goal  is  deemed  probable  (the  “Probable  Date”),  a  determination  that  requires  significant  judgment  by 
management, as the achievement of these goals have inherent risk and uncertainties. At the Probable Date, the Company 
records a cumulative catch-up expense for the portion of the grant date fair value attributable to the period from the grant 
date to the Probable Date. The remaining expense is recognized over the remaining service period on a straight-line basis. 

Income taxes 

On December 15, 2022, the European Union (EU) member states formally adopted the EU’s Pillar Two Directive, 
which generally provides for a minimum effective tax rate of 15%, as established by the Organization for Economic Co-
operation and Development (OECD) Pillar Two Framework that was supported by over 130 countries worldwide. The EU 
effective dates are January 1, 2024, and January 1, 2025, for different aspects of the directive. A significant number of 
other countries are also implementing similar legislation. As a result, the tax laws in the U.S. and other countries in which 
PTC and its affiliates do business could change on a prospective or retroactive basis and any such changes could materially 
adversely affect the Company’s business. The Company is continuing to evaluate the potential impact on future periods 
of the Pillar Two Framework, pending legislative adoption by additional individual countries, including those within the 
EU. 

On December 22, 2017, the U.S. government enacted the 2017 Tax Cuts and Jobs Act (“TCJA”), which significantly 
revised U.S. tax law by, among other provisions, lowering the U.S. federal statutory income tax rate to 21%, imposing a 
mandatory one-time transition tax on previously deferred foreign earnings, and eliminating or reducing certain income tax 
deductions. The Global Intangible Low-tax Income ("GILTI") provisions of the TCJA require the Company to include in 
its U.S. income tax return foreign subsidiary earnings in excess of an allowable return on the foreign subsidiary’s tangible 
assets. The Company has elected to account for GILTI tax in the period in which it is incurred, and therefore has not 
provided any deferred tax impacts of GILTI in its consolidated financial statements for the period ended December 31, 
2023.  

Starting in 2022, TCJA amendments to IRC Section 174 no longer permits an immediate deduction for research and 
development (R&D) expenditures in the tax year that such costs are incurred. Instead, these IRC Section 174 development 

160 

PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

costs must now be capitalized and amortized over either a five- or 15-year period, depending on the location of the activities 
performed. The new amortization period begins with the midpoint of any taxable year that IRC Section 174 costs are first 
incurred, regardless of whether the expenditures were made prior to or after July 1 and runs until the midpoint of year five 
for activities conducted in the United States or year 15 in the case of development conducted on foreign soil. This tax law 
change resulted in an increased current taxable income of the Company by $300.3 million for the year ended December 
31, 2023. 

Deferred tax assets and liabilities are recognized for the future tax consequences attributable to differences between 
the financial statement carrying amounts of existing assets and liabilities and their respective tax bases and net operating 
loss and credit carryforwards. Deferred tax assets and liabilities are measured at rates expected to apply to taxable income 
in the years in which those temporary differences and carryforwards are expected to be recovered or settled. The effect on 
deferred tax assets and liabilities of a change in tax rates is recognized in the statement of operations in the period that 
includes the enactment date. A valuation allowance is recorded when it is not more likely than not that all or a portion of 
the net deferred tax assets will be realized. 

On August 23, 2018, the Company completed its acquisition of Agilis Biotherapeutics, Inc. (“Agilis”), pursuant to an 
Agreement and Plan of Merger, dated as of July 19, 2018 (the “Agilis Merger Agreement”), by and among the Company, 
Agility Merger Sub, Inc., a Delaware corporation and the Company’s wholly owned, indirect subsidiary, Agilis and, solely 
in its capacity as the representative, agent and attorney-in-fact of the equityholders of Agilis, Shareholder Representative 
Services LLC, (the “Agilis Merger”). The Company recorded a deferred tax liability in conjunction with the Agilis Merger 
of $122.0 million in 2018, related to the tax basis difference in the In-Process Research and Development, or IPR&D, 
indefinite-lived intangibles acquired. The Company’s policy is to record a deferred tax liability related to acquired IPR&D 
which may eventually be realized either upon amortization of the asset when the research is completed and a product is 
successfully launched or the write-off of the asset if it is abandoned or unsuccessful. In July 2022, the Company received 
EMEA approval for a portion of the IPR&D assets, and thus, began the amortization of the intangible. 

In  May  2023,  as  part  of  a  strategic  portfolio  prioritization,  the  Company  announced  the  discontinuation  of  its 
preclinical and early research programs for its gene therapy platform, which included programs for Friedreich ataxia and 
Angelman syndrome. In conjunction with the announcement, the Company recorded an impairment to its indefinite-lived 
intangible for IP research and development relating to the Friedreich ataxia and Angelman syndrome gene therapy assets. 
As a result of the impairment, the Company recorded a deferred tax benefit of $46.9 million during the 2023 tax year. 

Foreign currency 

The functional currencies of the Company’s foreign subsidiaries primarily are the local currencies of the country in 
which the subsidiary operates. The Company had an intercompany loan which was recorded on a non-U.S. subsidiary and 
was formally denominated in U.S. dollars and was remeasured into local currency using the exchange rate as of the balance 
sheet date. During the year ended December 31, 2022, the loan agreement was amended to change the denomination from 
U.S. dollars to local currency, and the Company recorded a  non-cash realized foreign exchange loss of $16.9 million, 
which was recorded within other income (expense), net on the consolidated statement of operations. The intercompany 
loan was settled during the year ended December 31, 2023. The Company’s asset and liability accounts, including the 
intercompany  loan,  are  translated  using  the  current  exchange  rate  as  of  the  balance  sheet  date.  Stockholders’  equity 
accounts are translated using historical rates at the balance sheet date. Revenue and expense accounts are translated using 
a  weighted  average  exchange  rate  over  the  period  ended  on  the  balance  sheet  date.  Adjustments  resulting  from  the 
translation of the financial statements of the Company’s foreign subsidiaries into U.S. dollars are accumulated as a separate 
component  of  stockholders’  equity  within  other  comprehensive  income.  Gains  or  losses  resulting  from  transactions 
denominated in foreign currencies are included in other income or expense, within the consolidated statements of income.  

161 

PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

Net (loss) income per share 

Basic net (loss) income per share is calculated by dividing the net (loss) income attributable to common stockholders 
by the weighted average number of common shares outstanding for the period, without consideration for common stock 
equivalents. Diluted net income per share is calculated by dividing the net income attributable to common stockholders by 
the weighted-average number of common share equivalents outstanding for the period determined using the treasury-stock 
method and the if-converted method. During periods in which the Company incurs net losses, both basic and diluted loss 
per share is calculated by dividing the net loss by the weighted average shares outstanding—potentially dilutive securities 
are  excluded  from  the  calculation  because  their  effect  would  be  anti-dilutive.  Dilutive  common  stock  equivalents  are 
comprised of options and unvested restricted stock outstanding under the Company’s stock option plans. 

Business combinations and asset acquisitions 

The Company evaluates acquisitions of assets and other similar transactions to assess whether or not the transaction 
should  be  accounted  for  as  a  business  combination  or  asset  acquisition  by  first  applying  a  screen  to  determine  if 
substantially all of the fair value of the gross assets acquired is concentrated in a single identifiable asset or group of similar 
identifiable assets. If the screen is met, the transaction is accounted for as an asset acquisition. If the screen is not met, 
further determination is required as to whether or not the Company has acquired inputs and processes that have the ability 
to  create  outputs,  which  would  meet  the  requirements  of  a  business.  If  determined  to  be  a  business  combination,  the 
Company accounts for the transaction under the acquisition method of accounting as indicated in ASU 2017-01, “Business 
Combinations”,  which  requires  the  acquiring  entity  in  a  business  combination  to  recognize  the  fair  value  of  all  assets 
acquired, liabilities assumed, and any non-controlling interest in the acquiree and establishes the acquisition date as the 
fair value measurement point. Accordingly, the Company recognizes assets acquired and liabilities assumed in business 
combinations, including  contingent  assets  and  liabilities,  and  non-controlling  interest  in  the  acquiree based on  the  fair 
value estimates as of the date of acquisition. In accordance with ASC 805, the Company recognizes and measures goodwill 
as of the acquisition date, as the excess of the fair value of the consideration paid over the fair value of the identified net 
assets acquired. 

The consideration for the Company’s business acquisitions may include future payments that are contingent upon the 
occurrence of a particular event or events. The obligations for such contingent consideration payments are recorded at fair 
value on the acquisition date. The contingent consideration obligations are then evaluated each reporting period. Changes 
in the fair value of contingent consideration, other than changes due to payments, are recognized as a gain or loss and 
recorded within the change in the fair value of deferred and contingent consideration in the consolidated statements of 
operations. 

If determined to be an asset acquisition, the Company accounts for the transaction under ASC 805-50, which requires 
the acquiring entity in an asset acquisition to recognize assets acquired and liabilities assumed based on the cost to the 
acquiring entity on a relative fair value basis, which includes transaction costs in addition to consideration given. No gain 
or loss is recognized as of the date of acquisition unless the fair value of noncash assets given as consideration differs from 
the assets’ carrying amounts on the acquiring entity’s books. Consideration transferred that is noncash will be measured 
based on either the cost (which will be measured based on the fair value of the consideration given) or the fair value of the 
assets acquired and liabilities assumed, whichever is more reliably measurable. Goodwill is not recognized in an asset 
acquisition  and  any  excess  consideration  transferred  over  the  fair  value  of  the  net  assets  acquired  is  allocated  to  the 
identifiable assets based on relative fair values. 

Contingent  consideration payments  in  asset  acquisitions are  recognized  when  the  contingency  is  resolved  and  the 
consideration is paid or becomes payable (unless the contingent consideration meets the definition of a derivative, in which 

162 

PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

case the amount becomes part of the basis in the asset acquired). Upon recognition of the contingent consideration payment, 
the amount is included in the cost of the acquired asset or group of assets. 

Finite-lived intangible assets 

The Company records the fair value of purchased intangible assets with finite useful lives as of the transaction date 
of a business combination or asset acquisition. Purchased intangible assets with finite useful lives are amortized to their 
estimated residual values over their estimated useful lives. 

Impairment of long-lived assets 

The Company monitors its long-lived assets and finite-lived intangibles for indicators of impairment. If such indicators 
are present, the Company assesses the recoverability of affected assets by determining whether the carrying value of such 
assets is less than the sum of the undiscounted future cash flows of the assets. If such assets are found not to be recoverable, 
the Company measures the amount of such impairment by comparing the carrying value of the assets to the fair value of 
the assets, with the fair value generally determined based on the present value of the expected future cash flows associated 
with the assets. The Company believes that no impairment of long-lived assets exists as of December 31, 2023. 

Indefinite-lived intangible assets 

Indefinite-lived intangible assets consist of IPR&D.  IPR&D acquired directly in a transaction other than a business 
combination is capitalized if the projects will be further developed or have an alternative future use; otherwise they are 
expensed.  The  fair  values  of  IPR&D  projects  and  license  agreement  assets  acquired  in  business  combinations  are 
capitalized. Several methods may be used to determine the estimated fair value of the IPR&D and license agreement asset 
acquired in a business combination. The Company utilizes the “income method” and uses estimated future net cash flows 
that are derived from projected sales revenues and estimated costs. These projections are based on factors such as relevant 
market  size,  patent  protection,  and  expected  pricing  and  industry  trends.  The  estimated  future net  cash  flows  are  then 
discounted to the present value using an appropriate discount rate. These assets are treated as indefinite-lived intangible 
assets until completion or abandonment of the projects, at which time the assets are amortized over the remaining useful 
life or written off, as appropriate. Intangible assets with indefinite lives, including IPR&D, are tested for impairment if 
impairment indicators arise and, at a minimum, annually. However, an entity is permitted to first assess qualitative factors 
to determine if a quantitative impairment test is necessary. Further testing is only required if the entity determines, based 
on the qualitative assessment, that it is more likely than not that an indefinite-lived intangible asset’s fair value is less than 
its carrying amount. Otherwise, no further impairment testing is required. The indefinite-lived intangible asset impairment 
test consists of a one-step analysis that compares the fair value of the intangible asset with its carrying amount. If the 
carrying amount of an intangible asset exceeds its fair value, an impairment loss is recognized in an amount equal to that 
excess. The Company considers many factors in evaluating whether the value of its intangible assets with indefinite lives 
may not be recoverable, including, but not limited to, expected growth rates, the cost of equity and debt capital, general 
economic  conditions,  the  Company’s  outlook  and  market  performance  of  the  Company’s  industry  and  recent  and 
forecasted financial performance.   

In  May  2023,  as  part  of  the  Company’s  strategic  portfolio  prioritization,  the  Company  decided  to  discontinue  its 
preclinical and early research programs in its gene therapy platform, which included programs for Friedreich ataxia and 
Angelman syndrome. As a result, the Company determined that the Friedreich ataxia and Angelman syndrome indefinite 
lived intangible assets were fully impaired and recorded impairment expense of $217.8 million during the second quarter 
of 2023, which is recorded as intangible asset impairment in the statement of operations. Refer to Note 17 for further 
information regarding the Company’s intangible assets. 

163 

PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

The Company performed an annual test for its remaining indefinite-lived intangible asset as of October 1, 2023 and 

concluded that no impairment exists as of December 31, 2023. 

Goodwill 

Goodwill represents the amount of consideration paid in excess of the fair value of net assets acquired as a result of 
the Company’s business acquisitions accounted for using the acquisition method of accounting. Goodwill is not amortized 
and is subject to impairment testing at a reporting unit level on an annual basis or when a triggering event occurs that may 
indicate the carrying value of the goodwill is impaired. The Company reassesses its reporting units as part of its annual 
segment review. As of December 31, 2023, the Company concluded that it continues to operate as one reporting unit. An 
entity is permitted to first assess qualitative factors to determine if a quantitative impairment test is necessary. Further 
testing is only required if the entity determines, based on the qualitative assessment, that it is more likely than not that the 
fair value of the reporting unit is less than its carrying amount. The Company performed an annual test for goodwill as of 
October 1, 2023. The Company’s single reporting unit had a negative carrying value and thus the Company determined 
there was no impairment of goodwill. 

Recent accounting pronouncements 

 In November 2023, the FASB issued ASU 2023-07, Segment Reporting (Topic 280) – Improvements to Reportable 
Segment Disclosures. This ASU requires that a public entity provide additional segment disclosures on an interim and 
annual basis. The amendments in this ASU should be applied retrospectively to all prior periods presented in the financial 
statements,  unless  impracticable.  Upon  transition,  the  segment  expense  categories  and  amounts  disclosed  in  the  prior 
periods should be based on the significant segment expense categories identified and disclosed in the period of adoption. 
The ASU is effective for fiscal years beginning after December 15, 2023 and interim periods within fiscal years beginning 
after December 15, 2024. Early adoption is permitted. The Company is currently planning to adopt this guidance when 
effective. The Company is assessing the impact of the adoption on the Company’s consolidated financial statements and 
accompanying footnotes. 

In  December  2023,  the  FASB  issued ASU  2023-09, Improvements  to  Income  Tax  Disclosures.  ASU  2023-09 
enhances the transparency about income tax information through improvements to income tax disclosures primarily related 
to  the  rate  reconciliation  and  income  taxes paid  information.  The  guidance  is  effective  for  public  business  entities  for 
annual periods beginning after December 15, 2024. For entities other than public business entities, the amendments are 
effective for annual periods beginning after December 15, 2025. Early adoption is permitted. The Company is currently 
planning to adopt this guidance when effective. The Company is assessing the impact of the adoption on the Company’s 
consolidated financial statements and accompanying footnotes.  

 3. Fair value of financial instruments and investments 

The Company follows the fair value measurement rules, which provide guidance on the use of fair value in accounting 
and disclosure for assets and liabilities when such accounting and disclosure is called for by other accounting literature. 
Cash equivalents, marketable securities, and equity investments are reflected in the accompanying financial statements at 
fair value. The carrying amount of receivables and accounts payable and accrued expenses approximate fair value due to 
the short-term nature of those instruments. 

 The Company uses the market approach to measure fair value for its marketable securities. The market approach uses 
prices  and  other  relevant  information  generated  by  market  transactions  involving  identical  or  comparable  assets.  The 

164 

 
 
PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

Company’s marketable securities are classified as Level 2 as they primarily utilize broker quotes in a nonactive market to 
value these securities.  

The Company owns common stock in ClearPoint Neuro, Inc. (“ClearPoint”) (formerly MRI Interventions, Inc.), a 
publicly  traded  medical  device  company.  The  ClearPoint  equity  investments  (collectively,  the  “ClearPoint  Equity 
Investments”) represent financial instruments, and therefore, are recorded at fair value, which is readily determinable. The 
ClearPoint Equity Investments are components of prepaids and other current assets as of December 31, 2023 and deposits 
and other assets as of December 31, 2022 on the consolidated balance sheet. The Company classifies its equity investments 
in ClearPoint as a Level 1 asset within the fair value hierarchy, as the value is based on a quoted market price in an active 
market, which is not adjusted. 

In January 2020, the Company purchased a $10.0 million convertible note from ClearPoint that the Company can 
convert into ClearPoint shares at a conversion rate of $6.00 per share at any point throughout the term of the loan, which 
matures five years from the purchase date. The Company determined that the convertible note represents an available for 
sale  debt  security  and  the  Company  has  elected  to  record  it  at  fair  value  under  ASC  825.  The  Company  classifies  its 
ClearPoint convertible debt security as a Level 2 asset within the fair value hierarchy, as the value is based on inputs other 
than quoted prices that are observable. The fair value of the ClearPoint convertible debt security is determined at each 
reporting period by utilizing a Black-Scholes option pricing model, as well as a present value of expected cash flows from 
the debt security utilizing the risk free rate and the estimated credit spread as of the valuation date as the discount rate. The 
convertible debt security is considered to be long term and is included as a component of deposits and other assets on the 
consolidated balance sheet. Other than the ClearPoint Equity Investment and the ClearPoint convertible debt security, no 
other items included in deposits and other assets and prepaids and other current assets on the consolidated balance sheets 
are fair valued. 

The Company has investments in mutual funds, including one that is denominated in a foreign currency. All of these 
are equity investments and are classified as marketable securities on the Company’s consolidated balance sheets. These 
equity investments are reported at fair value, as they are readily available, and as such are classified as Level 1 assets. 
Unrealized holding gains and losses for these equity investments are included as components of other income (expense), 
net within the consolidated statement of operations.  

The table presented below is a summary of changes in the fair value for the Company’s marketable securities – equity 
investments, ClearPoint Equity Investments, and ClearPoint convertible debt security for the years ended December 31, 
2023 and 2022: 

Ending 

Foreign  

Ending 

  Balance at 

Marketable securities - equity investments 
ClearPoint Equity Investments 
ClearPoint Convertible Debt Security  
Total Fair Value 

Balance at 
December 31, 
2022 
 108,261 
 10,965 
 15,231 
 134,457 

  $ 

  $ 

  Currency 
  Unrealized 

Gain 

  Unrealized  
  Gain/(Loss) 
 2,517 
 (1,515) 
 (2,678)
 (1,676)  $

  Realized  
  Gain/(Loss) 
 4,383 
 (782) 
 — 
 3,601    $

$

  Investments     Redemptions/    December 31, 
Sale 
  Purchased  
 (132,343)  $
 38,432 
 (2,594) 
 — 
 —   
 — 
 38,432 

 22,634 
 6,074 
 12,553 
 41,261 

 (134,937)  $

2023 

$

 1,384 
 — 
 — 
 1,384    $

165 

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

Marketable securities - equity investments 
ClearPoint Equity Investments 
ClearPoint Convertible Debt Security  
Total Fair Value 

Ending  
Balance at 
December 31, 
2021 

  Unrealized  
    Gain/(Loss) 

  $ 

  $ 

 206,973 
 14,525 
 20,971 
 242,469 

$

 (7,992)
 (3,560) 
 (5,740)
 (17,292) 

Foreign  
  Currency 
  Unrealized 
     Gain/(Loss) 
 (549)
 — 
 — 
 (549) 

$

Investments  
    Purchased  
 22,787 
 — 
 — 
 22,787   

$

Ending  
Balance at 

  December 31, 

    Redemptions 

2022 

 (112,958) 
 —  
 —  
 (112,958) 

$

$

$

 108,261 
 10,965 
 15,231 
 134,457 

Fair value of marketable securities that are classified as available for sale debt securities is based upon market prices 
using quoted prices in active markets for identical assets quoted on the last day of the period. In establishing the estimated 
fair  value  of  the  remaining  available  for  sale  debt  securities,  the  Company  used  the  fair  value  as  determined  by  its 
investment advisors using observable inputs other than quoted prices. 

The following represents the fair value using the hierarchy described in Note 2 for the Company’s financial assets and 

liabilities that are required to be measured at fair value on a recurring basis as of December 31, 2023 and 2022: 

December 31, 2023 

Marketable securities - available for sale 
Marketable securities - equity investments 
ClearPoint Equity Investments 
ClearPoint convertible debt security 
Contingent consideration payable- development and 
regulatory milestones 
Contingent consideration payable- net sales 
milestones 

  $ 
  $ 
  $ 
  $ 

  $ 

  $ 

Marketable securities - available for sale 
Marketable securities - equity investments 
ClearPoint Equity Investments 
ClearPoint convertible debt security 
Contingent consideration payable- development and 
regulatory milestones 
Contingent consideration payable- net sales 
milestones and royalties 

  $ 
  $ 
  $ 
  $ 

  $ 

  $ 

Quoted prices    
in active 
markets for 
identical assets    
(level 1) 

Total 
 260,104    $ 
 22,634    $ 
 6,074    $ 
 12,553    $ 

 —    $ 
 22,634    $ 
 6,074    $ 
 —    $ 

Significant 
other 
observable 
inputs 
(level 2) 
 260,104    $ 
 —    $ 
 —    $ 
 12,553    $ 

Significant 
unobservable 
inputs 
(level 3) 

 — 
 — 
 — 
 — 

 26,600    $ 

 —    $ 

 —    $ 

 26,600 

 9,700    $ 

 —    $ 

 —    $ 

 9,700 

December 31, 2022 

Quoted prices    
in active 
markets for 
identical assets    
(level 1) 

Significant 
other 
observable 
inputs 
(level 2) 

Significant 
unobservable 
inputs 
(level 3) 

 —    $ 
 108,261    $ 
 10,965    $ 
 —    $ 

 22,610    $ 
 —    $ 
 —    $ 
 15,231    $ 

 — 
 — 
 — 
 — 

Total 
 22,610    $ 
 108,261    $ 
 10,965    $ 
 15,231    $ 

 82,500    $ 

 —    $ 

 —    $ 

 82,500 

 81,500    $ 

 —    $ 

 —    $ 

 81,500 

No transfers of assets between Level 1 and Level 2 of the fair value measurement hierarchy occurred during the years 

ended December 31, 2023 and 2022. 

166 

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
   
   
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
  
 
 
  
  
 
 
 
 
 
 
  
  
  
 
 
 
 
  
  
  
 
 
 
 
  
  
 
     
     
     
     
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
  
 
 
  
  
 
 
 
 
 
 
  
  
  
 
 
 
 
  
  
  
 
 
 
 
  
  
 
     
     
     
     
 
PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

The following is a summary of marketable securities accounted for as available for sale debt securities at December 31, 

2023 and 2022: 

Commercial paper 
Corporate debt securities 
Government Obligations 
Total 

Commercial paper 
Corporate debt securities 
Total 

Amortized    
Cost 
  $  117,044    $ 

 1,650   
 141,084   
  $  259,778    $ 

December 31, 2023 
Gross Unrealized 

Gains 

 128   $ 

 —  
 212  
 340   $ 

Losses 

      Fair Value 
 (12)  $  117,160 
 1,648 
 (2) 
 —  
 141,296 
 (14)  $  260,104 

Amortized    
Cost 
 12,419    $ 
 10,685   
 23,104    $ 

  $ 

  $ 

December 31, 2022 
Gross Unrealized 

Gains 

Losses 

 5    $ 
 —   
 5    $ 

 —    $ 

      Fair Value 
 12,424 
 10,186 
 22,610 

 (499) 
 (499)  $ 

For available for sale debt securities in an unrealized loss position, the Company assesses whether it intends to sell or 
if it is more likely than not that the Company will be required to sell the security before recovery of its amortized cost 
basis. If either of the criteria regarding intent or requirement to sell is met, the security’s amortized cost basis is written 
down to fair value. For the years ended December 31, 2023 and 2022, no write downs occurred. The Company does not 
intend to sell the investments and it is not more likely than not that the Company will be required to sell the investments 
before recovery of their amortized cost basis, which may be maturity. The Company also reviews its available for sale 
debt securities in an unrealized loss position and evaluates whether the decline in fair value has resulted from credit losses 
or  other  factors.  This  review  is  subjective,  as  it  requires  management  to  evaluate  whether  an  event  or  change  in 
circumstances has occurred in that period that may be related to credit issues. For the years ended December 31, 2023 and 
2022, no allowance was recorded for credit losses. Unrealized gains and losses are reported as a component of accumulated 
other comprehensive (loss) income in stockholders’ deficit. 

For the year ended December 31, 2023, the Company had $0.3 million of realized losses from the sale of available 
for sale debt securities. For the year ended December 31, 2022, the Company had $4.0 million of realized gains from the 
sale of available for sale debt securities. Realized gains and losses are reported as a component of interest expense, net in 
the consolidated statement of operations. 

The unrealized losses and fair values of available for sale debt securities that have been in an unrealized loss position 

for a period of less than and greater than or equal to 12 months as of December 31, 2023 are as follows: 

December 31, 2023 

   Securities in an unrealized loss    
position less than 12 months 

Securities in an unrealized loss 
   position greater than or equal to 12 months 

Fair Value 

Total 
   Unrealized losses     Fair Value 
 (12) 
  44,446 
 (2)  $  1,648 
 (14)  $ 46,094 

 —   
 1,648    
 1,648   $ 

   Unrealized losses     Fair Value      Unrealized losses     
Commercial paper 
  $ 
Corporate debt securities   $ 
  $ 
Total 

 (12) 
 —  
 (12)  $ 

 —    
 44,446   $ 

 —   
 (2)  
 (2)   $ 

 44,446   

167 

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
  
 
 
 
 
     
     
     
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
  
 
 
 
 
     
     
     
 
  
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
    
 
 
 
 
 
  
 
 
 
 
 
 
 
 
PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

The unrealized losses and fair values of available for sale debt securities that have been in an unrealized loss position 

for a period of less than and greater than or equal to 12 months as of December 31, 2022 are as follows: 

December 31, 2022 

   Securities in an unrealized loss    
position less than 12 months 

Securities in an unrealized loss 
   position greater than or equal to 12 months 

   Unrealized losses     Fair Value      Unrealized losses     

Fair Value 

Corporate debt securities   $ 
  $ 
Total 

 —   
 —    $ 

 —     
 —    $ 

 (499) 
 (499)  $ 

Total 
   Unrealized losses    Fair Value 
 (499)  $ 10,186 
 (499)  $ 10,186 

 10,186     
 10,186    $ 

Available for sale debt securities on the balance sheet at December 31, 2023 and 2022 mature as follows: 

December 31, 2023 

Commercial paper 
Corporate debt securities 
Government obligations 
Total 

Commercial paper 
Corporate debt securities 
Total 

Less Than 
12 Months 

   More Than 
12 Months 
 — 
 — 
 — 
 — 

 117,160   $ 
 1,648  
 141,296  
 260,104   $ 

  $ 

  $ 

December 31, 2022 

Less Than 
12 Months 

   More Than 
12 Months 
 — 
 10,186 
 10,186 

 12,424    $ 
 —   
 12,424    $ 

  $ 

  $ 

The Company classifies all of its marketable securities as current as they are all either available for sale debt securities 

or equity investments and are available for current operations. 

Convertible senior notes 

In September 2019, the Company issued $287.5 million of 1.5% convertible senior notes due September 15, 2026 (the 
“2026  Convertible  Notes).  The  fair  value  of  the  2026  Convertible  Notes,  which  differs  from  their  carrying  values,  is 
influenced by interest rates, the Company’s stock price and stock price volatility and is determined by prices for the 2026 
Convertible Notes observed in market trading which are Level 2 inputs. The estimated fair value of the 2026 Convertible 
Notes at December 31, 2023 and December 31, 2022 was $265.3 million and $281.7 million, respectively. 

Level 3 valuation 

The contingent consideration payable is fair valued each reporting period with the change in fair value recorded as a 
gain or loss within the change in the fair value of contingent consideration on the consolidated statements of operations. 
The fair value of the development and regulatory milestones are estimated utilizing a probability adjusted, discounted cash 
flow  approach.  The  discount  rates  are  estimated  utilizing  Corporate  B  rated  bonds  maturing  in  the years  of  expected 
payments based on the Company’s estimated development timelines for the acquired product candidate. The fair value of 
the net sales milestones is determined utilizing a valuation framework that estimates net sales volatility to simulate a range 
of possible payment scenarios. The average of the payments in these scenarios is then discounted to calculate present fair 
value. 

168 

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
    
 
 
 
 
 
  
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
  
 
     
     
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
  
 
     
     
 
  
  
 
PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

In  May  2023,  as  part  of  the  Company’s  strategic  portfolio  prioritization,  the  Company  decided  to  discontinue  its 
preclinical and early research programs in its gene therapy platform, which included programs for Friedreich ataxia and 
Angelman syndrome. As a result, the Company fully impaired the Friedreich ataxia and Angelman syndrome intangible 
assets and determined that the fair value for all of the contingent consideration payable related to Friedreich ataxia and 
Angelman syndrome was $0. The change in fair value for the contingent consideration payable related to Friedreich ataxia 
and Angelman syndrome for the year ended December 31, 2023 was $128.4 million and is included in the change in fair 
value  of  the  contingent  consideration  in  the  statement  of  operations.  The  remaining  contingent  consideration  as  of 
December 31, 2023 is $36.3 million, which is solely related to the development and regulatory milestones, and net sales 
milestones, for Upstaza.  

As of December 31, 2023, the weighted average discount rate for the Upstaza development and regulatory milestones 
was 5.9%  and the  weighted  average probability  of  success  was 90%. As of December 31, 2023,  the weighted  average 
discount rate for the Upstaza net sales milestones was 11.0% and the weighted average probability of success for the net 
sales milestones was 93%. 

The  table presented below  is  a  summary of  changes  in  the  fair value of  the  Company’s  Level 3 valuation  for  the 

contingent consideration payables for the years ended December 31, 2023, and 2022: 

Contingent consideration payable-    Contingent consideration payable- 
net sales milestones and royalties 
- Agilis 

development and regulatory 
milestones - Agilis 

Beginning balance as of December 31, 2021 
Additions 
Change in fair value 
Payments 
Ending balance as of December 31, 2022 
Additions 
Change in fair value 
Payments 
Ending balance as of December 31, 2023 

  $ 

  $ 

  $ 

 139,300    $ 
 —   
 (6,800)  
 (50,000)  
 82,500    $ 
 —   
 (55,900)  
 —   
 26,600    $ 

 100,600 
 — 
 (19,100)
 — 
 81,500 
 — 
 (71,800)
 — 
 9,700 

In July 2022, the EC approved Upstaza for the treatment of AADC deficiency for patients 18 months and older within 
the EEA, which triggered a $50.0 million milestone payment to the former equityholders of Agilis in accordance with the 
terms of the Agilis Merger Agreement.  In accordance with ASC 230, the portion of the $50.0 million milestone payment 
up to the acquisition date fair value of the contingent consideration liability is classified as a financing outflow and the 
amount  paid  in  excess  of  the  acquisition  date  fair  value  of  that  liability  is  classified  as  an  operating  outflow  on  the 
consolidated statements of cash flows for the year ended December 31, 2022. 

169 

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
     
     
 
  
  
 
  
  
 
 
  
 
  
  
 
  
 
 
  
  
 
 
 
 
PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

The following significant unobservable inputs were used in the valuation of the contingent consideration payables for 

the years ended December 31, 2023 and 2022: 

December 31, 2023 

      Fair Value      Valuation Technique      

Contingent consideration 
payable- 
development and 
regulatory milestones 

$26,600 

 Probability-adjusted 
discounted cash flow  

Contingent considerable 
payable- net sales 
milestones and royalties 

$9,700 

Option-pricing model 
with Monte Carlo 
simulation   

Unobservable Input 
Potential development and regulatory milestones 
Probabilities of success 
Discount rates 
Projected years of payments 
Potential net sales milestones 
Probabilities of success 
Potential percentage of net sales for royalties 
Discount rate 
Projected years of payments 

     Fair Value      Valuation Technique      

Contingent consideration 
payable- 
development and regulatory 
milestones 

$82,500 

 Probability-adjusted 
discounted cash flow  

Contingent considerable 
payable- net sales 
milestones and royalties 

$81,500 

Option-pricing model 
with Monte Carlo 
simulation   

December 31, 2022 

Unobservable Input 
Potential development and regulatory milestones 
Probabilities of success 
Discount rates 
Projected years of payments 
Potential net sales milestones 
Probabilities of success 
Potential percentage of net sales for royalties 
Discount rate 
Projected years of payments 

Range 
$0 - $31 million 
85% - 92% 
5.8% - 6.1% 
2024 - 2026 
$0 - $50 million 
85% - 100% 
0% 
11% 
2026 - 2034 

Range 
$0 - $331 million 
25% - 92% 
6.2% - 8.3% 
2023 - 2029 
$0 - $150 million 
25% - 100% 
2% - 6% 
11.5% 
2025 - 2041 

The contingent consideration payables are classified Level 3 liabilities as their valuation requires substantial judgment 
and estimation of factors that are not currently observable in the market. If different assumptions were used for the various 
inputs to the valuation approaches, including but not limited to, assumptions involving probability adjusted sales estimates 
for the gene therapy platform and estimated discount rates, the estimated fair value could be significantly higher or lower 
than the fair value determined. 

4. Fixed assets 

Fixed assets, net were as follows at December 31, 2023 and 2022: 

Leasehold improvements 
Computer equipment and software 
Machinery and lab equipment 
Furniture and fixtures 
Assets in process 

Less accumulated depreciation 
Total 

December 31,  

2023 
 30,166    $ 
 17,503   
 62,837   
 3,849   
 24,008   
 138,363   
 (51,274) 
 87,089    $ 

2022 
 28,969 
 15,332 
 47,496 
 3,812 
 14,349 
 109,958 
 (37,368)
 72,590 

  $ 

  $ 

Depreciation  expense  was  approximately  $13.9  million,  $12.3  million,  and  $9.4  million  for  the years  ended 

December 31, 2023, 2022, and 2021, respectively. 

170 

 
 
 
 
 
 
 
 
 
 
 
 
 
     
 
  
  
 
 
  
  
 
 
 
 
 
 
 
 
 
 
 
 
 
 
     
 
  
  
 
 
  
  
 
 
 
 
 
 
 
 
 
 
 
 
 
     
     
 
  
  
 
 
 
 
  
  
 
  
  
 
 
  
  
 
  
  
 
PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

5. Leases 

The Company leases office space in South Plainfield, New Jersey for its principal office under two noncancelable 
operating leases through August 2024, in addition to office and laboratory space in Bridgewater, New Jersey and other 
locations throughout the United States, as well as office space in various countries for international employees primarily 
through workspace providers. 

The Company also leases approximately 220,500 square feet of office, manufacturing and laboratory space at a facility 
located in Hopewell Township, New Jersey (the “Campus”) pursuant to a Lease Agreement (the “Hopewell Lease”) with 
Hopewell Campus Owner LLC (the “Landlord”). The rental term of the Hopewell Lease commenced on July 1, 2020 and 
has an initial term of fifteen years (the “Hopewell Initial Term”), with two consecutive ten year renewal periods, each at 
the Company’s option. The aggregate rent for the Hopewell Initial Term will be approximately $111.5 million. The rental 
rate for the renewal periods will be 95% of the Prevailing Market Rate (as defined in the Hopewell Lease) and determined 
at the time of the exercise of the  renewal. The Company is also responsible for maintaining certain insurance and the 
payment of proportional taxes, utilities and common area operating expenses. The Hopewell Lease contains customary 
events of default, representations, warranties and covenants. 

In May 2022, the Company entered into a Lease Agreement (the “Warren Lease”) with Warren CC Acquisitions, LLC 
(the “Warren Landlord”) relating to the lease of two entire buildings comprised of approximately 360,000 square feet of 
shell condition, modifiable space (the “Warren Premises”) at a facility located in Warren, New Jersey. The rental term of 
the Warren Lease commenced on June 1, 2022 (the “Commencement Date”), with an initial term of seventeen years (the 
“Warren Initial Term”), followed by three consecutive five-year renewal periods at the Company’s option. The aggregate 
base rent for the Warren Initial Term will be approximately $163.0 million; provided, however, that if the Company is not 
subject to an Event of Default (as defined in the Warren Lease), the Company will be entitled to a base rent abatement 
over the first three years of the Warren Initial Term of approximately $18.6 million, reducing the Company’s total base 
rent obligation to $144.4 million. The rental rate for the renewal periods will be at the Fair Market Rental Value (as defined 
in the Warren Lease) and determined at the time of the exercise of the renewal. Beginning in the second lease year, the 
Company is also responsible for the payment of all taxes and operating expenses for the Warren Premises. As a result, the 
Company recorded an operating lease ROU asset of $28.9 million and an operating lease ROU liability of $28.9 million 
as of the Commencement Date. 

The Company is developing the Warren Premises into office and laboratory space. The Company is entitled to an 
allowance of approximately $36.2 million to be provided by the Warren Landlord to be used towards such improvements. 
The  Landlord is  providing  the  allowance  to  cover  those  assets  that  are  real  property  improvements, such  as  structural 
components, roofs, flooring, etc., whose useful lives are typically longer in nature. Upon the first issuance of a temporary 
certificate of occupancy for the Warren Premises, the Company will receive $5.0 million from the Landlord, which the 
Company has committed to fund into the construction account. The Company evaluated the leasehold improvements under 
ASC  842  and  determined  that  the  Company  will  be  the  owner  of  the  improvements,  and  therefore  the  $36.2  million 
allowance and $5.0 million due from the Landlord were treated as lease incentives at the commencement of the lease and 
included in the calculation of the lease ROU asset and lease ROU liability, effectively reducing both at Commencement 
Date. In connection with the execution of the Warren Lease, the Company also committed to fund a construction account 
with $3.6 million to go towards the Company’s improvements of the Warren Premises. Subject to the terms of the Warren 
Lease, the Company has a right of first offer to purchase the Warren Premises if the Warren Landlord receives a bona fide 
third party offer to purchase the Warren Premises or the Warren Landlord decides to sell the Warren Premises. 

The Company also has a finance lease related to its commercial manufacturing agreement with MassBiologics of the 
University of Massachusetts Medical School (“MassBio”). As of December 31, 2023, the balance of the finance lease 

171 

PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

liabilities-current and finance lease liabilities-non-current are $3.0 million and $17.2 million, respectively, and are directly 
related to the Company’s MassBio agreement. As of December 31, 2022, the balance of the finance lease liabilities-current 
and finance lease liabilities non-current were $3.0 million and $18.7 million, respectively. Additionally, during the years 
ended December 31, 2023 and December 31, 2022, the Company recorded finance lease costs of $1.5 million and $1.6 
million, respectively, related to interest on the lease liability. 

The  Company  also  leases  certain  vehicles,  lab  equipment,  and  office  equipment  under  operating  leases.  The 
Company’s operating leases have remaining lease terms ranging from 0.2 years to 15.4 years and certain leases include 
renewal options to extend the lease for up to 15 years. Rent expense was $29.0 million, $25.2 million, and $21.4 million 
for the years ended December 31, 2023, 2022 and 2021. 

The components of lease expense were as follows: 

Year Ended December 31, 
2023 

Year Ended December 31, 
2022 

Year Ended December 31, 
2021 

Operating Lease Cost 
Fixed lease cost 
Variable lease cost 
Short-term lease cost 
Total operating lease cost 

  $ 

  $ 

 21,952  $ 
 5,846 
 1,186 
 28,984  $ 

 19,804  $ 
 4,557 
 808 
 25,169  $ 

 16,411 
 4,361 
 656 
 21,428 

Total operating lease cost is a component of operating expenses on the consolidated statements of operations. 

Supplemental lease term and discount rate information related to leases was as follows: 

Weighted-average remaining lease terms - operating leases (years) 
Weighted-average discount rate - operating leases 
Weighted-average remaining lease terms - finance lease (years) 
Weighted-average discount rate - finance lease 

Supplemental cash flow information related to leases was as follows: 

    December 31, 2023      December 31, 2022   

 11.55   

 8.69  %
 9.01   
 7.80  %

 11.61   

 8.61  % 

 10.01   

 7.80  % 

Year Ended December 31,  
2022 

2023 

2021 

Cash paid for amounts included in the measurement of lease liabilities: 
Operating cash flows from operating leases 
Financing cash flows from finance lease 
Operating cash flows from finance lease 

  $  15,338    $  14,736  $  13,683 
 2,224 
 776 

 1,379   
 1,621   

 1,276 
 1,724 

Right-of-use assets obtained in exchange for lease obligations: 
Operating leases 

  $ 

 —    $  35,817  $ 

 645 

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PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

Future minimum lease payments under non-cancelable leases as of December 31, 2023 were as follows: 

2024 
2025 
2026 
2027 
2028 and thereafter 
Total lease payments 
Less: Imputed Interest expense 
Total 

 $ 

      Operating Leases      Finance Lease 
 3,000 
 18,352    $ 
 3,000 
 20,450   
 3,000 
 19,992   
 3,000 
 17,945   
 15,000 
 175,847   
 27,000 
 252,586   
 6,816 
 141,957   
 20,184 
 110,629    $ 

 $ 

6. Accounts payable and accrued expenses 

Accounts payable and accrued expenses at December 31, 2023 and 2022 consist of the following: 

Employee compensation, benefits, and related accruals 
Income tax payable 
Consulting and contracted research 
Professional fees 
Sales allowance  
Sales rebates 
Royalties 
Accounts payable 
Other 
Total 

December 31,  

2023 
 62,643    $ 
 —   
 27,500   
 2,246   
 77,176   
 131,334   
 74,111   
 6,045   
 10,928   
 391,983    $ 

2022 
 62,669 
 4,712 
 38,882 
 3,093 
 63,787 
 67,355 
 40,546 
 27,268 
 12,054 
 320,366 

 $ 

 $ 

During the year ended December 31, 2023, the Company incurred $32.8 million of restructuring costs from a reduction 
in workforce in connection with the Company’s strategic pipeline prioritization and discontinuation of its preclinical and 
early research programs in its gene therapy platform. The costs are included in research and development and selling, 
general and administrative expenses on the Company’s consolidated statement of operations. As of December 31, 2023, 
the remaining $9.0 million of accrued restructuring costs are included above within employee compensation, benefits, and 
related accruals. 

173 

 
 
 
 
 
 
 
 
 
 
 
 
   
 
 
   
 
 
   
 
 
   
 
 
   
  
 
   
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
     
  
 
   
  
   
  
   
  
   
  
  
 
   
  
   
  
 
 
PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

7. Debt 

Liability for sale of future royalties 

The following table shows the activity within the “liability for sale of future royalties- current” and “liability for sale 

of future royalties- noncurrent” accounts for the year ended December 31, 2023: 

Liability for sale of future royalties- (current and noncurrent) 
Beginning balance as of December 31, 2022 
Less: Non-cash royalty revenue payable to RPI 
Plus: Non-cash interest expense recognized 
Plus: Cash Consideration 
Plus: Loss on Debt Extinguishment 
Ending balance 
Effective interest rate as of December 31, 2023 

Year Ended December 31,  

2023 

 757,886   
 (93,460) 
 104,790   
 1,000,000   
 44,881   
 1,814,097   
10.8%   

  $ 

  $ 

Non-cash interest expense is recorded in the statement of operations within “Interest expense, net”.   

Senior Secured Term Loan  

On October 27, 2022 (the “Closing Date”), the Company entered into a credit agreement (the “Blackstone Credit 
Agreement”) for fundings of up to $950.0 million consisting of a committed loan facility of $450.0 million and further 
contemplating the potential for up to $500.0 million of additional financing, to the extent that the Company requested such 
additional financing and subject to the Lenders’ agreement to provide such additional financing and to mutual agreement 
on terms, among the Company, certain subsidiaries of the Company (together with the Company, the “Loan Parties”) and 
funds and other affiliated entities advised or managed by Blackstone Life Sciences and Blackstone Credit (collectively, 
“Blackstone”,  and  such  lenders,  together  with  their  permitted  assignees,  the  “Lenders”  and  each  a  “Lender”)  and 
Wilmington Trust, National Association, as the administrative agent for the Lenders.   

The Blackstone Credit Agreement provided for a senior secured term loan facility funded on the Closing Date in the 
aggregate principal amount of $300.0 million (the “Initial Loans”) and a committed delayed draw term loan facility of up 
to  $150.0 million  (the  “Delayed  Draw  Loans”  and,  together  with  the  Initial  Loans,  the  “Loans”)  to  be  funded  at  the 
Company’s request within 18 months of the Closing Date subject to specified conditions. In addition, the Blackstone Credit 
Agreement contemplated the potential for further financings by Blackstone, by providing for incremental discretionary 
uncommitted further financings of up to $500.0 million. The Company capitalized approximately $11.6 million of debt 
issuance costs which are presented on the balance sheet as a direct deduction from the debt liability and are being amortized 
over the term of the senior secured term loan facility using the effective interest rate method.  

The Loans were to mature on the date that is seven years from the Closing Date. Borrowings under the Blackstone 
Credit Agreement bore interest at a variable rate equal to, at the Company’s option, either an adjusted Term SOFR rate 
plus seven and a quarter percent (7.25%) or the Base Rate plus six and a quarter percent (6.25%), subject to a floor of one 
percent (1%) and two percent (2%) with respect to Term SOFR rate and Base Rate (each as defined in the Blackstone 
Credit Agreement), respectively. Payment of the Loans were subject to certain premiums specified in the Blackstone Credit 
Agreement, in each case, from the date of the applicable Loan funded. 

174 

 
 
 
 
 
 
 
     
 
 
 
 
 
 
 
 
 
 
 
 
  
 
 
 
 
 
 
PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

All  obligations  under  the  Blackstone  Credit  Agreement  were  secured,  subject  to  certain  exceptions  and  specified 
inclusions, by security interests in certain assets of the Loan Parties, including (1) intellectual property and other assets 
related to Translarna, Emflaza, Upstaza, sepiapterin and, until certain release conditions were met, vatiquinone, in each 
case, together with any other forms, formulations, or methods of delivery of any such products, and regardless of trade or 
brand name, (2) future acquired intellectual property (but not internally developed intellectual property unrelated to other 
intellectual property collateral) and other related assets, and (3) the equity interests held by the Loan Parties in certain of 
their subsidiaries. The Blackstone Credit Agreement contained certain negative covenants with which the Company was 
to  remain  in  compliance.  The  Blackstone  Credit  Agreement  also  required  that  the  Company  maintained  consolidated 
liquidity of at least $100.0 million as of the last day of each fiscal quarter, which was to be increased to $200.0 million 
upon the Company consummating acquisitions meeting certain consolidated thresholds described therein. In addition, the 
Company was required under conditions specified in the Blackstone Credit Agreement to fund a reserve account up to 
certain amounts specified therein. The funds in the reserve account were available to prepay the Loans at any time at the 
Company’s option, and were, if funded, subject to release upon certain further conditions. Upon any such release, such 
funds  were  freely  available  for  use  by  the  Company  subject  to  the  generally  applicable  terms  and  conditions  of  the 
Blackstone  Credit  Agreement.  The  Blackstone  Credit  Agreement  contained  certain  customary  representations  and 
warranties, affirmative covenants and provisions relating to events of default. 

On October 19, 2023, the Company terminated the Blackstone Credit Agreement. In connection with the termination 
of the Credit Agreement, the Company repaid outstanding principal of $300.0 million, accrued interest of $2.1 million, an 
additional $82.0 million in prepayment premiums, exit fees, and creditor expenses, and $0.2 million in legal fees. The 
Company recorded a loss on the extinguishment of debt of $92.7 million which is included on the statement of operations 
for the period ended December 31, 2023. The loss on extinguishment of debt consisted of $82.0 million in prepayment 
premiums, exit fees, and creditor expenses and debt issuance costs of $10.7 million. All liens and security interests securing 
the loans made pursuant to the Blackstone Credit Agreement were released upon termination.  

The Blackstone Credit Agreement consisted of the following: 

Principal 
Less: Debt issuance costs 
Repayment of senior secured term loan 
Net carrying amount 

Year ended  
December 31, 

2023 

2022 

$ 

$ 

 300,000 
 — 
 (300,000)
 — 

$ 

$ 

 300,000 
 (11,322)
 — 
 288,678 

The following table sets forth total interest expense recognized related to the Blackstone Credit Agreement: 

Contractual interest expense 
Amortization of debt issuance costs 
Total 
Effective interest rate 

Year Ended  

December 31,  

2023 

Year Ended  

December 31,  

2022 

$ 

$ 

 30,198   
 702   
 30,900   

$ 

$ 

13.1  %   

 6,069  
 290  
 6,359  
 12.2  %

175 

 
 
 
 
 
 
 
 
 
 
 
 
       
 
 
 
 
 
 
  
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
  
 
 
 
PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

2026 Convertible Notes 

the  Company 

In September 2019, 

issued,  at  par  value, $287.5  million aggregate  principal  amount 
of 1.50% convertible senior notes due 2026, which included an option to purchase up to an additional $37.5 million in 
aggregate principal amount of the 2026 Convertible Notes, which was exercised in full by the initial purchasers. The 2026 
Convertible Notes bear cash interest at a rate of 1.50% per year, payable semi-annually on March 15 and September 15 of 
each year, beginning on March 15, 2020. The 2026 Convertible Notes will mature on September 15, 2026, unless earlier 
repurchased or converted. The net proceeds to the Company from the offering were $279.3 million after deducting the 
initial purchasers’ discounts and commissions and the offering expenses payable by the Company. 

The 2026 Convertible Notes are governed by an indenture (the “2026 Convertible Notes Indenture”) with U.S Bank 

National Association as trustee (the “2026 Convertible Notes Trustee”). 

Holders of the 2026 Convertible Notes may convert their 2026 Convertible Notes at their option at any time prior to 
the close of business on the business day immediately preceding March 15, 2026 only under the following circumstances: 

• 

• 

• 

• 

during any calendar quarter commencing on or after December 31, 2019 (and only during such calendar quarter), 
if  the  last  reported  sale  price  of  the  Company’s  common  stock  for  at  least 20 trading days  (whether  or  not 
consecutive) during a period of 30 consecutive trading days ending on the last trading day of the immediately 
preceding calendar quarter is greater than or equal to 130% of the conversion price on each applicable trading 
day; 

during the five business day period after any five consecutive trading day period (the “measurement period”) in 
which the trading price (as defined in the 2026 Convertible Notes Indenture) per $1,000 principal amount of 2026 
Convertible Notes for each trading day of the measurement period was less than 98% of the product of the last 
reported sale price of the Company’s common stock and the conversion rate on each such trading day; 

during any period after the Company has issued notice of redemption until the close of business on the scheduled 
trading day immediately preceding the relevant redemption date; or 

upon the occurrence of specified corporate events. 

On or after March 15, 2026, until the close of business on the business day immediately preceding the maturity date, 
holders  may  convert  their  2026  Convertible  Notes at  any  time,  regardless  of  the  foregoing  circumstances.  Upon 
conversion, the Company will pay or deliver, as the case may be, cash, shares of the Company’s common stock or any 
combination thereof at the Company’s election. 

The  conversion  rate  for  the  2026  Convertible  Notes was  initially,  and  remains,  19.0404  shares  of  the  Company’s 
common stock per $1,000 principal amount of the 2026 Convertible Notes, which is equivalent to an initial conversion 
price  of  approximately $52.52  per  share  of  the  Company’s  common  stock.  The  conversion  rate  may  be  subject  to 
adjustment in some events but will not be adjusted for any accrued and unpaid interest. 

The Company was not permitted to redeem the 2026 Convertible Notes prior to September 20, 2023. The Company 
may redeem for cash all or any portion of the 2026 Convertible Notes, at its option, if the last reported sale price of its 
common stock has been at least 130% of the conversion price then in effect on the last trading day of, and for at least 19 
other trading days (whether or not consecutive) during, any 30 consecutive trading day period ending on, and including, 

176 

PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

the trading day immediately preceding the date on which the Company provides notice of redemption, at a redemption 
price  equal  to  100%  of  the  principal  amount  of  the  2026  Convertible  Notes to  be  redeemed,  plus  accrued  and  unpaid 
interest to, but excluding, the redemption date. No sinking fund is provided for the 2026 Convertible Notes, which means 
that the Company is not required to redeem or retire the 2026 Convertible Notes periodically. 

If the Company undergoes a “fundamental change” (as defined in the 2026 Convertible Notes Indenture), subject to 
certain conditions, holders of the 2026 Convertible Notes may require the Company to repurchase for cash all or part of 
their 2026 Convertible Notes at a repurchase price equal to 100% of the principal amount of the 2026 Convertible Notes to 
be repurchased, plus accrued and unpaid interest to, but excluding, the fundamental change repurchase date. 

The 2026 Convertible Notes represent senior unsecured obligations and will rank senior in right of payment to the 
Company’s future indebtedness that is expressly subordinated in right of payment to the notes, equal in right of payment 
to the Company’s existing and future unsecured indebtedness that is not so subordinated, effectively junior in right of 
payment to any of the Company’s secured indebtedness to the extent of the value of the assets securing such indebtedness, 
and structurally subordinated to all existing and future indebtedness and other liabilities (including trade payables) incurred 
by the Company’s subsidiaries. The 2026 Convertible Notes Indenture contains customary events of default with respect 
to the 2026 Convertible Notes, including that upon certain events of default (including the Company’s failure to make any 
payment of principal or interest on the 2026 Convertible Notes when due and payable) occurring and continuing, the 2026 
Convertible Notes Trustee by notice to the Company, or the holders of at least 25% in principal amount of the outstanding 
2026  Convertible  Notes by notice  to  the  Company  and  the  Convertible  Notes Trustee,  may,  and  the  2026  Convertible 
Notes Trustee  at  the  request  of  such  holders  (subject  to  the  provisions  of  the  2026  Convertible  Notes Indenture)  will, 
declare 100% of the principal of and accrued and unpaid interest, if any, on all the 2026 Convertible Notes to be due and 
payable. In case of certain events of bankruptcy, insolvency or reorganization, involving the Company or a significant 
subsidiary, 100% of the principal of and accrued and unpaid interest on the 2026 Convertible Notes will automatically 
become due and payable. Upon such a declaration of acceleration, such principal and accrued and unpaid interest, if any, 
will be due and payable immediately. 

Prior to the adoption of ASU 2020-06, the Company accounted for the 2026 Convertible Notes as a liability and equity 
component where the carrying value of the liability component was valued based on a similar instrument. In accounting 
for the issuance of the 2026 Convertible Notes, the Company separated the 2026 Convertible Notes into liability and equity 
components.  The  carrying  amount  of  the  liability  component  was  calculated  by  measuring  the  fair  value  of  a  similar 
liability that did not have an associated convertible feature. The carrying amount of the equity component representing the 
conversion option was determined by deducting the fair value of the liability component from the par value of the 2026 
Convertible Notes as a whole. The excess of the principal amount of the liability component over its carrying amount, 
referred to as the debt discount, was amortized to interest expense over the seven-year term of the 2026 Convertible Notes. 
The equity component was not re-measured as long as it continued to meet the conditions for equity classification. The 
equity component recorded at issuance related to the 2026 Convertible Notes was $123.0 million and was recorded in 
additional paid-in capital. 

In accounting for the transaction costs related to the issuance of the 2026 Convertible Notes, the Company allocated 
the total costs incurred to the liability and equity components of the 2026 Convertible Notes based on their relative values. 
Transaction costs attributable to the liability component were amortized to interest expense over the seven-year term of 
the  2026  Convertible  Notes,  and  transaction  costs  attributable  to  the  equity  component  were  netted  with  the  equity 
components  in  stockholders’  equity.  Additionally,  the  Company  initially  recorded  a  net  deferred  tax  liability  of  $25.3 
million in connection with the 2026 Convertible Notes. 

177 

PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

Effective January 1, 2021 the Company adopted ASU 2020-06. After adoption, the Company now accounts for the 
2026 Convertible Notes as a single liability measured at amortized cost. As the equity component is no longer required to 
be split into a separate component, the Company recorded an adjustment for the initial $123.0 million that was allocated 
to additional paid in capital and $16.1 million of life to date interest expense recorded as amortization of debt discount. 
Additionally, the net deferred tax liability recorded for the 2026 Convertible Notes was reversed.  The principal amount 
of the liability over its carrying amount is amortized to interest expense over the seven-year term of the 2026 Convertible 
Notes.  Since  the  2026  Convertible  Notes  are  classified  as  a  single  liability,  there  is  no  debt  discount  required  to  be 
amortized. 

The 2026 Convertible Notes consist of the following: 

Principal 
Less: Debt issuance costs 
Net carrying amount 

Year ended  
December 31, 

2023 
  $  287,500  $ 

 (3,287)

  $  284,213  $ 

2022 
 287,500 
 (4,456)
 283,044 

As of December 31, 2023, the remaining contractual life of the 2026 Convertible Notes is approximately 2.7 years. 

The following table sets forth total interest expense recognized related to the 2026 Convertible Notes: 

Contractual interest expense 
Amortization of debt issuance costs 
Total 
Effective interest rate 

Year ended  
December 31,  

  $ 

  $ 

2023 
 4,305    $ 
 1,171   
 5,476    $ 
 1.9  %  

2022 

 4,313   
 1,150   
 5,463   

 1.9  % 

In April 2022, under the terms of the 2026 Convertible Notes Indenture, the Company paid additional interest on the 
2026 Convertible Notes at a rate equal to 0.5% per annum, for a total interest payment of approximately $2.1 million, for 
the period beginning September 25, 2020 and ending March 14, 2022. In September 2022, under the terms of the 2026 
Convertible Notes Indenture, the Company paid additional interest on the 2026 Convertible Notes at a rate equal to 0.5% 
per annum, for a total interest payment of approximately $0.1 million, for the period beginning March 15, 2022 and ending 
April 8, 2022. These amounts are not included in the table above, but were recorded as interest expense, net within the 
statement of operations for the year ended December 31, 2022. 

2022 Convertible Notes 

In August 2015, the Company issued, at par value, $150.0 million aggregate principal amount of 3.00% convertible 
senior notes due 2022 (the “2022 Convertible Notes”). On August 15, 2022, the Company repaid the outstanding principal 
amount  and  accrued  interest,  totaling  $152.3  million,  of  the  2022  Convertible  Notes  that  was  due  upon  maturity  in 
accordance with the terms of the notes.  

178 

 
 
 
 
 
 
 
 
 
   
 
 
   
 
  
 
 
 
 
 
 
 
 
 
 
 
 
     
 
 
 
 
 
 
 
 
 
  
 
 
  
 
 
PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

The following table sets forth total interest expense recognized related to the 2022 Convertible Notes: 

Contractual interest expense 
Amortization of debt issuance costs 
Total 
Effective interest rate 

8. Capital structure 

Common stock 

Year ended  
December 31, 

 $ 

 $ 

2023 

$ 

 —   
 —   
$ 
 —   
 —  %    

2022 
 2,800   
 460   
 3,260   

 3.5  %

In August 2019, the Company entered into an At the Market Offering Sales Agreement (the “Sales Agreement”) with 
Cantor Fitzgerald and RBC Capital Markets, LLC (together, the “Sales Agents”), pursuant to which, the Company may 
offer and sell shares of its common stock, having an aggregate offering price of up to $125.0 million from time to time 
through  the  Sales  Agents  by  any  method  that  is  deemed  to  be  an  “at  the  market  offering”  as  defined  in 
Rule 415(a)(4) promulgated  under  the  Securities  Act  of  1933,  as  amended.  No  shares  were  sold  pursuant  to  the  Sales 
Agreement during the years ended December 31, 2023, 2022, and 2021. The remaining shares of the Company’s common 
stock available to be issued and sold, under the Sales Agreement, have an aggregate offering price of up to $93.0 million 
as of December 31, 2023. 

In  June  2021,  the  Company  filed  a  Certificate  of  Amendment  to  its  Restated  Certificate  of  Incorporation,  which 

increased the number of authorized shares of the Company’s common stock from 125,000,000 to 250,000,000 shares. 

In connection with the execution of the Blackstone Credit Agreement, the Company and certain entities affiliated with 
the Lenders (the “Purchasers”) also entered into a stock purchase agreement (the “Stock Purchase Agreement”) on the 
Closing Date for the sale and issuance of 1,095,290 shares of common stock (the “Shares”) to the Purchasers at a price of 
$45.65 per share, for an aggregate purchase price of approximately $50.0 million. The per share price represents the closing 
price of the Company’s common stock on the Nasdaq Global Select Market on October 26, 2022. 

Under  the  Stock  Purchase  Agreement,  the  Company  agreed  to  register  the  resale  of  the  Shares  on  a  registration 
statement to be filed with the Securities and Exchange Commission within 60 days of the Closing Date. The Company 
agreed to keep such registration statement effective for a period of six months following the Closing Date. In addition, 
subject to certain conditions, the Purchasers were entitled to participate in registered underwritten public offerings by the 
Company during such period. 

Pursuant to the terms of the Stock Purchase Agreement, the Purchasers and certain of their controlled affiliates agreed 
not to, without the prior written approval of the Company and subject to specified conditions, directly or indirectly acquire 
shares of the Company’s outstanding common stock in excess of specified thresholds, seek or propose any acquisition of 
all or substantially all of the assets of the Company, seek or propose a merger or other business combination involving the 
Company, solicit proxies or consents with respect to any securities of the Company, seek to influence the management, 
board of directors or policies of the Company, or undertake other specified actions related to the potential acquisition of 
additional equity interests in the Company, or to encourage others to do any of the above (the “Standstill Restrictions”). 
The Standstill Restrictions terminated upon the termination of the Blackstone Credit Agreement. 

179 

 
 
 
 
 
 
 
 
 
 
 
  
 
 
  
 
 
     
  
   
  
   
 
 
 
 
  
  
PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

The Purchasers also agreed not to sell or transfer the Shares without the prior written approval of the Company for a 

period of 90 days following the Closing Date, subject to certain exceptions. 

In February 2023, the Company completed enrollment of its Phase 3 placebo-controlled clinical trial for sepiapterin 
for PKU.  In connection with this event and pursuant to the Censa Merger Agreement, the Company paid a $30.0 million 
development milestone to the former Censa securityholders during the year ended December 31, 2023. The Company 
elected to pay this milestone in the form of shares of its common stock, less certain cash payments in accordance with the 
Censa Merger Agreement. Pursuant to such election, the Company issued 657,462 shares of its common stock and paid 
$0.4 million to the former Censa securityholders. 

As of December 31, 2023, the Company’s number of authorized shares of common stock was 250,000,000. 

9. Net loss per share 

Basic  and  diluted  net  loss  per  share  is  computed  by  dividing  net  loss  available  to  common  stockholders  by  the 
weighted-average number of common shares outstanding.  Potentially dilutive securities were excluded from the diluted 
calculation because their effect would be anti-dilutive.  

The following table sets forth the computation of basic and diluted net loss per share for common stockholders: 

Numerator 
Net loss 
Denominator 
Denominator for basic and diluted net loss per share 
Net loss per share: 
Basic and diluted 

2023 

Year ended December 31,  
2022 

2021 

 $ 

 (626,604)    $ 

 (559,017)     $ 

 (523,901)   

 74,838,392        

 71,728,634          70,466,393     

 $ 

 (8.37)*  $ 

 (7.79) *  $ 

 (7.43)* 

*  For the years ended December 31, 2023, 2022, and 2021, the Company experienced a net loss and therefore did not 

report any dilutive share impact. 

The following table shows historical dilutive common share equivalents outstanding, which are not included in the 

above historical calculation, as the effect of their inclusion is anti-dilutive during each period. 

Stock Options 
Unvested restricted stock awards and units 
Total 

10. Stock award plan 

As of December 31,  

2023 

 9,600,399   
 2,866,270    
 12,466,669    

2022 
 11,502,417   
 2,516,336    

2021 
 10,772,582 
 1,519,831 
 14,018,753      12,292,413 

In  May 2013, the  Company’s  Board  of Directors  and stockholders  approved  the 2013  Long  Term  Incentive  Plan, 
which became effective upon the closing of the Company’s IPO. The 2013 Long Term Incentive Plan provides for the 
grant of incentive stock options, nonstatutory stock options, restricted stock awards and other stock-based awards. On June 
8, 2022 (the “Restatement Effective Date”), the Company’s stockholders approved the Amended and Restated 2013 Long-

180 

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
     
     
 
  
 
 
  
 
 
  
 
 
  
 
   
   
  
 
 
  
 
   
 
 
 
 
 
 
 
 
 
 
 
 
    
     
     
 
  
  
 
 
PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

Term Incentive Plan (the “Amended 2013 LTIP”). The Amended 2013 LTIP provides for the grant of incentive stock 
options, nonstatutory stock options, restricted stock units and other stock-based awards. The number of shares of common 
stock reserved for issuance under the Amended 2013 LTIP is the sum of (A) the number of shares of the Company’s 
common stock (up to 16,724,212 shares) that is equal to the sum of (1) the number of shares issued under the 2013 Long-
Term Incentive Plan prior to the Restatement Effective Date, (2) the number of shares that remain available for issuance 
under the 2013 Long-Term Incentive Plan immediately prior to the Restatement Effective Date and (3) the number of 
shares subject to awards granted under the 2013 Long-Term Incentive Plan prior to the Restatement Effective Date that 
are outstanding as of the Restatement Effective Date, plus (B) from and after the Restatement Effective Date, an additional 
8,475,000  shares  of  Common  Stock.  As  of  December 31,  2023,  awards  for  8,680,209  shares  of  common  stock  were 
available for issuance under the Amended 2013 LTIP. 

There are no additional shares of common stock available for issuance under the Company’s 1998 Employee, Director 

and Consultant Stock Option Plan, 2009 Equity and Long Term Incentive Plan or 2013 Stock Incentive Plan. 

In January 2020, the Company’s Board of Directors approved the 2020 Inducement Stock Incentive Plan. The 2020 
Inducement Stock Incentive Plan provides for the grant of incentive stock options, nonstatutory stock options, restricted 
stock awards and other stock-based awards, initially up to an aggregate of 1,000,000 shares of common stock. Any grants 
made under the 2020 Inducement Stock Incentive Plan must be made pursuant to the Nasdaq Listing Rule 5635(c)(4) 
inducement  grant  exception  as  a  material  component  of  the  Company’s  new  hires’  employment  compensation.  In 
December 2020, the Company’s Board of Directors approved an additional 1,000,000 shares of common stock that may 
be issued under the 2020 Inducement Stock Incentive Plan. In April 2022, the Company’s Board of Directors approved a 
reduction in the total number of shares of common stock that may be issued under the 2020 Inducement Stock Incentive 
Plan to 1,300,000 shares. In December 2022, the Company’s Board of Directors approved an additional 1,700,000 shares 
of common stock that may be issued under the 2020 Inducement Stock Inventive Plan. As of December 31, 2023, awards 
for 1,834,322 shares of common stock are available for issuance under the 2020 Inducement Stock Incentive Plan. 

The Board of Directors has the authority to select the individuals to whom options are granted and determine the terms 
of each option, including (i) the number of shares of common stock subject to the option; (ii) the date on which the option 
becomes exercisable; (iii) the option exercise price, which, in the case of incentive stock options, must be at least 100% 
(110% in the case of incentive stock options granted to a stockholder owning in excess of 10% of the Company’s stock) 
of the fair market value of the common stock as of the date of grant; and (iv) the duration of the option (which, in the case 
of incentive stock options, may not exceed ten years). Options typically vest over a four-year period. 

Inducement stock option awards 

Pursuant to the Nasdaq inducement grant exception, during the year ended December 31, 2023, the Company issued 
options to purchase an aggregate of 139,040 shares of common stock to certain new hire employees at a weighted-average 
exercise price of $41.25 per share under the 2020 Inducement Stock Incentive Plan. Additionally, during the year ended 
December 31, 2023, the Company issued 105,370 restricted stock units under the 2020 Inducement Stock Incentive Plan. 
An aggregate of 270,583 of options and 79,195 of restricted stock units previously granted as inducement awards were 
forfeited during the year ended December 31, 2023 in connection with employee separations from the Company. 

181 

PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

Stock option activity—A summary of stock option activity is as follows: 

  Weighted- 

average 
exercise 
price 

      Weighted-       
average 
remaining   
contractual  
term 

  Aggregate 
intrinsic 
value(in  
thousands) 

Number of 
options 

Outstanding at December 31, 2020 
Granted 
Exercised 
Forfeited 
Outstanding at December 31, 2021 
Granted 
Exercised 
Forfeited 
Outstanding at December 31, 2022 
Granted 
Exercised 
Forfeited/Cancelled 
Outstanding at December 31, 2023 
Vested or Expected to vest at December 31, 2023 
Exercisable at December 31, 2023 

 9,663,677    $ 
 2,487,234    $ 
 (635,871)  $ 
 (742,458)  $ 
 10,772,582    $ 
 1,685,435    $ 
 (496,863)  $ 
 (458,737)  $ 
 11,502,417    $ 
 1,117,284    $ 
 (822,482)  $ 
 (2,196,820)  $ 
 9,600,399    $ 
 1,796,687    $ 
 7,650,948    $ 

 38.72    
 61.36    
 28.01    
 52.04    
 43.66    
 38.55    
 29.45    
 48.75    
 43.33    
 40.19    
 29.25    
 45.85    
 43.59    
 45.85    
 43.08    

 5.39  years  $ 
 8.16 years  $ 
 4.68  years  $ 

 8,814 
 366 
 8,387 

The  fair  values  of  grants  made  in  the years  ended  December 31,  2023,  2022  and  2021  were  contemporaneously 

estimated on the date of grant using the following assumptions: 

Risk-free interest rate 
Expected volatility 
Expected term 

2023 
3.54% - 4.69%    
53% - 56% 
5.5 years  

2022 
1.55% - 4.57%    
54% - 74% 
5.5 years  

2021 
0.51% - 1.24% 
74% - 89% 
5.5 years  

The Company assumed no expected dividends for all grants. The weighted average grant date fair value of options 
granted during the years ended December 31, 2023, 2022 and 2021 was $21.27, $23.54, and $43.05 per share, respectively. 

Restricted Stock Awards and Restricted Stock Units—Restricted stock awards and restricted stock units are granted 
subject to certain restrictions, including in some cases service conditions (restricted stock). The grant-date fair value of 
restricted stock awards, which has been determined based upon the market value of the Company’s shares on the grant 
date, is expensed over the vesting period. 

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PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

The following table summarizes information on the Company’s restricted stock awards and units: 

Unvested at December 31, 2022 
Granted 
Vested 
Forfeited 
Unvested at December 31, 2023 

  Restricted Stock Awards and Units

Weighted 
Average 
Grant 
Date 
Fair Value 

 45.67 
 38.75 
 43.74 
 42.31 
 41.82 

Number of 
Shares 

 2,516,336    $ 
 2,104,128   
 (920,488) 
 (833,706) 
 2,866,270    $ 

Performance-based Restricted Stock Units—In December 2023, the Company granted 150,000 performance-based 
restricted stock units (“PSUs”) to its Chief Executive Officer, Dr. Matthew Klein, which will vest only if challenging 
performance  goals  relating  to  development  and  regulatory  milestones  are  achieved  over  an  approximately  two  year 
performance period. As of December 31, 2023, the achievements of the performance goals have not yet been deemed 
probable and therefore no expense has been recognized to date. 

Employee  Stock  Purchase  Plan—In  June 2016,  the  Company  established  an  Employee  Stock  Purchase  Plan  (as 
amended, “ESPP” or the “Plan”) for certain eligible employees. The Plan is administered by the Company’s Board of 
Directors or a committee appointed by the Board. In June 2021, the Plan was amended to increase the total number of 
shares available for purchase under the Plan from one million shares to two million shares of the Company’s common 
stock. Employees may participate over a six-month period through payroll withholdings and may purchase, at the end of 
the six-month period, the Company’s common stock at a purchase price of at least 85% of the closing price of a share of 
the  Company’s  common  stock  on  the  first  business  day  of  the  offering  period  or  the  closing  price  of  a  share  of  the 
Company’s  common  stock  on  the  last  business  day  of  the  offering  period,  whichever  is  lower.  No  participant  will  be 
granted a right to purchase the Company’s common stock under the Plan if such participant would own more than 5% of 
the total combined voting power of the Company or any subsidiary of the Company after such purchase. For the period 
ending December 31, 2023, the Company recorded $2.4 million in compensation expense related to the ESPP. 

The Company recorded share-based compensation expense in the statement of operations related to incentive stock 

options, nonstatutory stock options, restricted stock awards, restricted stock units and the ESPP as follows: 

Research and development 
Selling, general and administrative 
Total 

 $ 

 $ 

Year ended December 31,  
2022 
 55,869    $ 
 54,464   

2023 
 52,941    $ 
 48,695   
 101,636    $ 

 110,333    $ 

2021 
 53,632 
 49,881 
 103,513 

As of December 31, 2023, there was approximately $119.6 million of total unrecognized compensation cost related 
to  unvested  share-based  compensation  arrangements  granted  under  the  Company’s  Plans.  This  cost  is  expected  to  be 
recognized as compensation expense over the weighted average remaining service period of approximately 2.1 years. 

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PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

11. Other comprehensive (loss) income and accumulated other comprehensive items 

Other comprehensive (loss) income includes changes in equity that are excluded from net loss, such as unrealized 

gains and losses on marketable securities. 

The  following  table  summarizes  other  comprehensive  (loss)  income  and  the  changes  in  accumulated  other 

comprehensive items, by component, for the years ended December 31, 2023, 2022, and 2021, respectively. 

Unrealized 
Gains (Losses) 
On 
Marketable 
Securities, net of tax  

Total 
Accumulated 
Other 

  Comprehensive 

Foreign 
Currency 
Translation   

Balance at December 31, 2020 

Other comprehensive (loss) income before reclassifications 
Amounts reclassified from other comprehensive items 
Other comprehensive (loss) income 

Balance at December 31, 2021 

Other comprehensive income before reclassifications 
Amounts reclassified from other comprehensive items 
Other comprehensive income 
Balance at December 31, 2022 

Other comprehensive income (loss) before reclassifications 
Amounts reclassified from other comprehensive items 
Other comprehensive income (loss) 

Balance at December 31, 2023 

  $ 

  $ 

  $ 

  $ 

 1,900    $ 
 (3,279) 
 777   
 (2,502) 

 (602)  $ 
 4,072   
 (3,964) 
 108   
 (494)  $ 
 1,135   
 (315) 
 820   
 326    $ 

 (62,857)  $ 
 39,177   
 —   
 39,177   
 (23,680)  $ 
 28,970   
 —   
 28,970   
 5,290    $ 
 (6,901) 
 —   
 (6,901) 
 (1,611)  $ 

Items 
 (60,957)
 35,898 
 777 
 36,675 
 (24,282)
 33,042 
 (3,964)
 29,078 
 4,796 
 (5,766)
 (315)
 (6,081)
 (1,285)

Reclassified  amounts  from other  comprehensive  items were determined  using  the  actual  realized gains  and  losses 

from the sales of marketable securities. 

12. Revenue recognition 

Net product sales 

During  the  years  ended  December 31,  2023,  2022,  and  2021,  net  product  sales  in  the  United  States  were  $255.1 
million,  $218.3  million,  and  $187.3  million,  respectively,  consisting  solely  of  sales  of  Emflaza,  and  net  product  sales 
outside of the United States were $406.1 million, $316.9 million, and $241.6 million respectively, consisting of sales of 
Translarna, Tegsedi, Waylivra, and Upstaza. Translarna net product revenues made up $355.8 million, $288.6 million, and 
$236.0 million of the net product sales outside the United States for the years ended December 31, 2023, 2022, and 2021, 
respectively. During the years ended December 31, 2023 and 2022, two countries, the United States and Russia, accounted 
for at least 10% of the Company’s net product sales, representing $255.1 million and $86.0 million, and $218.3 million 
and $59.7 million of the net product sales, respectively. During the year ended December 31, 2021, only the United States 
accounted for at least 10% of the Company’s net product sales. For the years ended December 31, 2023, 2022, and 2021, 
two of the Company’s distributors each accounted for over 10% of the Company’s net product sales. 

As of December 31, 2023 and 2022, the Company does not have a contract liabilities balance related to net product 

sales, and has not made significant changes to the judgments made in applying ASC Topic 606. 

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PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

Collaboration revenue and Royalty revenue 

In November 2011, the Company and the Spinal Muscular Atrophy Foundation (“SMA Foundation”) entered into a 
licensing  and  collaboration  agreement  with  F.  Hoffman-La  Roche Ltd  and  Hoffman-  La  Roche Inc.  (collectively, 
“Roche”).  Under  the  terms  of  the  SMA  License  Agreement,  Roche  acquired  an  exclusive  worldwide  license  to  the 
Company’s SMA program. 

Under  the  agreement,  the  Company  is  eligible  to  receive  additional  payments  from  Roche  if  specified  events  are 
achieved  with  respect  to  each  licensed  product,  including  up  to  $135.0  million  in  research  and  development  event 
milestones,  up  to  $325.0  million  in  sales  milestones  upon  achievement  of  certain  sales  events,  and  up  to  double  digit 
royalties on worldwide annual net sales of a commercial product. 

For the years ended December 31, 2023, 2022, and 2021, the Company recognized revenue related to the licensing 
and  collaboration  agreement with  Roche of  $100.0 million,  $50.1 million,  and  $55.0 million, respectively.  The below 
summarizes the milestone achievements associated with the Company’s SMA program during the years ended December 
31, 2023, 2022, and 2021. 

The SMA program currently has one approved product, Evrysdi, which was approved in August 2020 by the FDA for 
the treatment of SMA in adults and children two months and older. The first commercial sale of Evrysdi in the EU was 
made  in  March  2021.  This  event  triggered  a  $20.0  million  milestone  payment  to  the  Company  from  Roche.  The  first 
commercial sale in Japan was made in August 2021, which was the final research and development milestone received by 
the Company. This event triggered a $10.0 million payment to the Company from Roche. In December 2021, the Company 
recorded its first sales milestone of $25.0 million for the achievement of $500.0 million in worldwide annual net sales 
from  Evrysdi.  The  Company  recorded  these  three  milestone  payments  as  collaboration  revenue  for  the  year  ended 
December 31, 2021. 

  In September 2022, the Company recognized a sales milestone of $50.0 million for the achievement of $750.0 million 
in worldwide annual net sales from Evrysdi, which is recorded on the balance sheet within prepaid expenses and other 
current assets as of December 31, 2022. For the year ended December 31, 2023, the Company recognized a sales milestone 
of $100.0 million for the achievement of $1.5 billion in worldwide annual net sales from Evrysdi, which is recorded on 
the balance sheet within prepaid expenses and other current assets as of December 31, 2023. The remaining potential sales 
milestones as of December 31, 2023 is $150.0 million upon achievement of certain sales events. As of December 31, 2023, 
the Company does not have any remaining research and development milestones that can be received. 

In addition to research and development and sales milestones, the Company is eligible to receive up to double-digit 
royalties on worldwide annual net sales of a commercial product under the SMA License Agreement. For the years ended 
December 31, 2023, 2022, and 2021 the Company has recognized $168.9 million, $113.5 million, and $54.6 million of 
royalty revenue related to Evrysdi, respectively. 

Manufacturing Revenue  

For the year ended December 31, 2023, the Company recognized $7.7 million of manufacturing revenue related to 
the production of DNA and AAV vectors for gene therapy applications for external customers. No manufacturing revenue 
was recognized for the years ended December 31, 2022 and 2021. The Company has not made significant changes to the 
judgments made in applying ASC Topic 606 for the years ended 2023, 2022, and 2021.  

185 

PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

As of December 31, 2023 and 2022, the Company has a contract liabilities balance of $0.8 million and $1.4 million, 
respectively,  relating  to  the  production  of  plasmid  DNA  and  AAV  vectors  for  gene  therapy  applications  for  external 
customers, which is recorded within deferred revenue on the consolidated balance sheet. For the year ended December 31, 
2023,  the  Company  recognized  $1.4  million  related  to  the  amounts  included  in  the  contract  liability  balance  at  the 
beginning of the period.  

As  of  December  31,  2023,  the  Company  has  contract  assets  of  $0.2  million  related  to  plasmid  DNA  and  AAV 
production for external customers, which is recorded within prepaid expenses and other current assets on the consolidated 
balance sheet. The Company did not have any contract assets for the period ending December 31, 2022. 

Remaining performance obligations 

As of December 31, 2023, and 2022, the Company has remaining performance obligations of $0.8 million and $1.4 
million, respectively, related to the production of plasmid DNA and AAV vectors for gene therapy applications for external 
customers. The Company expects to recognize revenue over the next one year, as the specific timing for satisfying the 
performance obligations is contingent upon a number of factors, including customers’ needs and schedules. 

13. Income taxes 

The loss from operations before tax benefit (expense) consisted of the following for the years ended December 31, 

2023, 2022, and 2021: 

Domestic 
Foreign 
Total 

2023 

2022 

2021 

  $   (784,744)  $   (591,126)  $   (487,726)
 (30,614)
  $   (696,110)  $   (587,487)  $   (518,340)

 88,634   

 3,639   

The Income Tax Provision consisted of the following for the years ended December 31, 2023, 2022 and 2021: 

Current: 
U.S. Federal 
U.S. State and Local 
Foreign 
Deferred: 
U.S. Federal 
U.S. State and Local 
Foreign 
Total tax benefit (expense) 

2023 

2022 

2021 

  $ 

 —    $ 

 —    $ 

 27,226   
 (4,003) 

 (4,224) 
 (1,582) 

 36,408   
 10,521   
 (646) 
 69,506    $ 

 23,689   
 10,587   
 —   
 28,470    $ 

  $ 

 — 
 (3,844)
 (1,340)

 — 
 (377)
 — 
 (5,561)

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PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

A reconciliation of the U.S. statutory income tax rate to the Company’s effective tax rate is as follows: 

Federal income tax provision at statutory rate 
State income tax provision, net of federal benefit 
Permanent differences 
Research and development 
Change in valuation allowances 
Change in deferred tax assets 
Foreign tax rate differential 
Tax rate change 
Release (Accrual) of uncertain tax positions 
Other 
Effective income tax rate 

2023 
 21.00  %  
 0.32    
 (1.43)  
 4.59    
 (16.86)  
 —    
 0.05    
 (1.26)  
 3.71   
 (0.12)  
 10.00  %  

December 31,  
2022 
 21.00  %   
 3.07    
 (1.83)  
 5.89    
 (23.36)  
 (0.10)  
 (0.17)  
 0.34    
 —   
 —    
 4.84  %   

2021 
 21.00  %  
 (0.74)  
 (4.06)  
 4.50    
 (29.03)  
 12.05    
 0.01    
 0.01    
 (4.78) 
 (0.03)  
 (1.07)% 

Accounting for income taxes under U.S. GAAP requires that individual tax-paying entities of the company offset all 
deferred  tax  liabilities  and  assets  within  each particular  tax  jurisdiction  and present  them  as  a noncurrent deferred  tax 
liability or asset. Amounts in different tax jurisdictions cannot be offset against each other. The noncurrent deferred income 
tax asset is recorded within deposits and other assets on the balance sheet. The amount of deferred income taxes are as 
follows: 

Assets: 

Noncurrent deferred income taxes 

Liabilities: 

Noncurrent deferred income taxes 

Deferred income taxes - net 

December 31,  

2023 

2022 

  $ 

 —    $ 

 — 

 (55,905) 
    (102,834)
 (55,905)  $   (102,834)

  $ 

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PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

The significant components of the Company’s deferred tax assets and liabilities at December 31, 2023 and 2022 are 

as follows: 

2023 

2022 

Deferred tax assets: 
Accrued expense 
Amortization 
Federal tax credits 
State tax credits 
Federal net operating losses 
State net operating losses 
Foreign net operating losses 
Capitalized research and development costs 
Share based compensation and other 
Liability for sale of future royalties 
Noncash interest expense  
Other comprehensive loss 
Total gross deferred tax assets 
Less valuation allowance 
Total deferred tax assets, net of valuation allowance 
Deferred tax liabilities: 

Depreciation 
Indefinite lived intangible 

Total gross deferred tax liabilities 
Net deferred tax assets (liabilities) 

  $ 

 25,400    $ 
 137,808   
 205,485   
 9,817   
 60,270   
 18,680   
 4,052   
 149,683   
 30,757   
 190,659   
 9,410   
 (728) 
 841,293   
    (833,810) 

 2,124 
 52,532 
 174,802 
 9,787 
 69,957 
 10,316 
 4,837 
 110,219 
 27,054 
 185,589 
 30,160 
 (719)
 676,658 
    (672,172)
 4,486 

 7,483    $ 

  $ 

  $ 

  $ 

 (4,486)
 (7,483)  $ 
    (102,834)
 (55,905) 
 (63,388) 
    (107,320)
 (55,905)  $   (102,834)

For the year ended December 31, 2023, the Company generated taxable income in the U.S. of $102.5 million.  The 
Company has not recorded any federal income tax provision after considering the federal NOL, section 250 deduction, 
available general  business  credits,  and foreign  tax  credits.  The  Company recorded  a state  income  tax benefit of  $27.2 
million which is primarily attributable to the receipt of an outstanding state tax refund received during the year ended 
December 31, 2023, and the subsequent release of the associated ASC 740 income tax reserve.  

At December 31, 2023 and 2022, the Company recorded a valuation allowance against its net deferred tax assets of 
$833.8 million and $672.2 million, respectively. The change in the valuation allowance during the years ended December 
31, 2023 and 2022 was $161.6 million and $146.6 million, respectively. A valuation allowance has been recorded since, 
in the judgment of management, these assets are not more likely than not to be realized. The ultimate realization of deferred 
tax assets is dependent upon the generation of future taxable income during periods in which those temporary differences 
and carryforwards become deductible or are utilized. As of December 31, 2023, the Company had $287.0 million, $208.8 
million, and $12.1 million of federal, state, and foreign net operating loss carryforwards, respectively. 

The Company recorded a deferred tax liability in conjunction with the Agilis Merger of $122.0 million in 2018, related 
to the tax basis difference in the IPRD indefinite-lived intangibles acquired. The Company’s policy is to record a deferred 
tax liability related to acquired IPR&D which may eventually be realized either upon amortization of the asset when the 
research is completed, and a product is successfully launched or the write-off of the asset if it is abandoned or unsuccessful. 
In July 2022, the Company received EMEA approval for a portion of the IPR&D assets, and thus, began the amortization 
of the intangible. In May 2023, as part of a strategic portfolio prioritization, the Company announced the discontinuation 
of  its  preclinical  and  early  research  programs  in  gene  therapy,  which  included  programs  for  Friedreich  ataxia  and 

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PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

Angelman syndrome. In conjunction with the announcement, the Company recorded an impairment to its indefinite-lived 
intangible for IP research and development relating to the Friedreich ataxia and Angelman syndrome gene therapy assets. 
As a result of the impairment, the Company recorded a deferred tax benefit during the 2023 tax year. 

As of December 31, 2023, research and development credit carryforward for federal purposes is $35.9 million. In 
addition,  the  Orphan  Drug  Credit  Carryover  available  as  of  December  31,  2023  is  $169.6  million.  The  Company  had 
research and development carryforwards expiring of $0.6 million in 2023, with additional expiration in 2024 and onwards 
if not otherwise utilized as projected. 

The  income  tax  benefit  (expense)  for  the  years  ended  December  31,  2023  and  2022  differed  from  the  amounts 
computed by applying the U.S. federal income tax rate of 21% to loss before tax expense as a result of the IPR&D assets 
becoming partially amortizable in 2022, foreign taxes, the impact of temporary difference, including the updated section 
174,    the  impact  of  permanent  differences,  including  “global  intangible  low-taxed  income”  (“GILTI”),  tax  credits 
generated, true up of net operating loss carryforwards, and increase in the Company’s valuation allowance.  

Under the 2017 Tax Cuts and Jobs Act, the ability to currently deduct qualifying research and experimental costs 
under section 174, as well as software development costs, are eliminated for tax years beginning after December 31, 2021. 
Under the new rule, these costs must be capitalized and amortized over a five-year or fifteen-year period, depending on 
whether the research is conducted in the U.S. or abroad, respectively. The rule resulted in an increased current taxable 
income of the Company by $300.3 million for the tax year ended December 31, 2023. 

The Company applies the elements of FASB ASC 740-10 regarding accounting for uncertainty in income taxes. This 
clarifies the accounting for uncertainty in income taxes recognized in financial statements and required impact of a tax 
position to be recognized in the financial statements if that position is more likely than not of being sustained by the taxing 
authority.  As  of  December  31,  2023,  the  Company  recorded  unrecognized  tax  benefits  in  the  amount  of  $1.4  million 
including interest and penalties through 2023. The Company’s policy is to recognize interest and penalties related to tax 
matters  within  the  income  tax  provision.  Tax  years  beginning  in  2014  are  generally  subject  to  examination  by  taxing 
authorities, although net operating losses from all years are subject to examinations and adjustments for at least three years 
following the year in which the attributes are used. The Company is currently under a wage tax audit in Germany for tax 
years  2018  through  2021.  Although  the  outcome  of  tax  audits  is  always  uncertain,  the  company  does  not  expect  any 
adjustment to result for these years as of December 31, 2023. 

For all years through December 31, 2016, the Company generated research credits but has not conducted a study to 
document the qualified activities. This study may result in an adjustment to the Company’s research and development 
credit carryforwards; however, until a study is completed and any adjustment is known, no amounts are being presented 
as  an  uncertain  tax  position.  A  full  valuation  allowance  has  been  provided  against  the  Company’s  research  and 
development credits and, if an adjustment is required, this adjustment would be offset by an adjustment to the deferred tax 
asset established for the research and development credit carryforwards and the valuation allowance. 

As a result of U.S. tax reform legislation, distributions of profits from non-U.S. subsidiaries are not expected to cause 
a significant incremental U.S. tax impact in the future. However, distributions may be subject to non-U.S. withholding 
taxes if profits are distributed from certain jurisdictions. As of December 31, 2023, for purposes of ASC 740-10-25-3, the 
Company had $345.9 million of undistributed earnings from non-U.S. subsidiaries that it intends to reinvest permanently 
in its non-U.S. operations. As these ASC 740-10-25-3 earnings are considered permanently reinvested, no tax provision 
has been accrued. It is not feasible to estimate the amount of tax that might be payable on the eventual remittance of such 
earnings. 

189 

PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

Unrecognized Tax Benefits 

A  reconciliation  of  the  gross  amount  of  unrecognized  tax  benefits,  excluding  accrued  interest  and  penalties,  is  as 

follows: 

Balance at December 31, 2022 
Reductions based on settlements or expiration of statute of limitations 
Interest received  
Balance at December 31, 2023 

$ 

Unrecognized Tax Benefits 

 27,217 
 (24,671)
 (1,186)
 1,360 

Uncertain tax positions, for which management’s assessment is that there is a more than 50% probability of sustaining 
the position upon challenge by a taxing authority based upon its technical merits, are subject to certain recognition and 
measurement  criteria.  The  nature  of  the  uncertain  tax  positions  is  often  very  complex  and  subject  to  change,  and  the 
amounts at issue can be substantial. The Company develops its cumulative probability assessment of the measurement of 
uncertain tax positions using internal experience, judgment, and assistance from professional advisors. The Company re-
evaluates these uncertain tax positions on a quarterly basis based on a number of factors including, but not limited to, 
changes in facts or circumstances, changes in tax law, and effectively settled issues under audit and new audit activity. 
Any change in these factors could result in the recognition of a tax benefit or an additional charge to the tax provision. 

The Company records penalties and tax-related interest expense on unrecognized tax benefits as a component of the 
provision for income taxes in the accompanying consolidated statement of operations. The Company has not recorded any 
interest  and  penalties  related  to  uncertain  tax  positions  for  the  year  ended  December  31,  2023,  in  the  accompanying 
consolidated balance sheet.  Future changes in the Company’s unrecognized tax benefits will affect the Company’s annual 
effective tax rate. 

14. Commitments and contingencies 

Under various agreements, the Company will be required to pay royalties and milestone payments upon the successful 
development and commercialization of products. The Company has entered into funding agreements with The Wellcome 
Trust Limited (“Wellcome Trust”) for the research and development of small molecule compounds in connection with its 
oncology and antibacterial programs. As the Company has discontinued development under its antibacterial program, it 
no  longer  expects  that  milestone  and  royalty  payments  from  the  Company  to  Wellcome  Trust  will  apply  under  that 
agreement, resulting in a change to the total amount of development and regulatory milestone payments the Company may 
become obligated to pay for this program. Under the oncology platform funding agreement, to the extent that the Company 
develops and commercializes certain program intellectual property on a for-profit basis itself or in collaboration with a 
partner  (provided  the  Company  retains  overall  control  of  worldwide  commercialization),  the  Company  may  become 
obligated to pay to Wellcome Trust development and regulatory milestone payments and single-digit royalties on sales of 
any research program product. The Company’s obligation to pay such royalties would continue on a country-by-country 
basis until the longer of the expiration of the last patent in the program intellectual property in such country covering the 
research program product and the expiration of market exclusivity of such product in such country. The Company made 
the  first  development  milestone  payment  of  $0.8  million  to  Wellcome  Trust  under  the  oncology  platform  funding 
agreement during the second quarter of 2016. During the year ended December 31, 2022, the Company incurred $2.5 
million of development milestones in connection with the enrollment of patients in the registration-directed Phase 2/3 trial 
of unesbulin for the treatment of LMS, which is recorded in accounts payable and accrued expenses on the balance sheet 

190 

 
 
 
 
 
  
 
 
PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

and will be payable upon the earlier to occur of the first dose administered to the last patient enrolled in the study or the 
termination  of  dosing  of  all  patients  in  the  study.  However,  as  part  the  Company's  continuous  platform  review,  the 
Company has decided to deprioritize its programs for unesbulin for the treatment of diffuse intrinsic pontine glioma and 
leiomyosarcoma. Accordingly, the Company no longer expects to pay additional milestones to Wellcome Trust under this 
agreement. 

The Company has also entered into a collaboration agreement with the SMA Foundation. The Company may become 
obligated to pay the SMA Foundation single-digit royalties on worldwide net product sales of any collaboration product 
that is successfully developed and subsequently commercialized or, with respect to collaboration products the Company 
outlicenses, including Evrysdi, a specified percentage of certain payments the Company receives from its licensee. The 
Company  is  not  obligated  to  make  such  payments  unless  and  until  annual  sales  of  a  collaboration  product  exceed  a 
designated threshold. Since inception, the SMA Foundation has earned $52.5 million, $35.3 million which was paid and 
$17.2  million  which  was  accrued  as  of  December  31,  2023.  The  Company  has  reached  its  obligations  to  make  such 
payments to the SMA Foundation of an aggregate of $52.5 million as of December 31, 2023. 

Pursuant  to  the  asset  purchase  agreement  ("Asset  Purchase  Agreement")  between  the  Company  and  Marathon 
Pharmaceuticals, LLC (now known as Complete Pharma Holdings, LLC) (“Marathon”), Marathon is entitled to receive 
contingent payments from the Company based on annual net sales of Emflaza up to a specified aggregate maximum amount 
over the expected commercial life of the asset. In addition, Marathon received a $50.0 million sales-based milestone during 
the year ended December 31, 2022. 

Pursuant  to  the  Agilis  Merger  Agreement  with  Agilis,  Agilis  equityholders  were  previously  entitled  to  receive 
contingent consideration payments from the Company based on (i) the achievement of certain development milestones up 
to an aggregate maximum amount of $60.0 million, (ii) the achievement of certain regulatory approval milestones together 
with  a  milestone  payment  following  the  receipt  of  a  priority  review  voucher  up  to  an  aggregate  maximum  amount  of 
$535.0 million, (iii) the achievement of certain net sales milestones up to an aggregate maximum amount of $150.0 million, 
and (iv) a percentage of annual net sales for Friedreich ataxia and Angelman syndrome during specified terms, ranging 
from 2%-6%. The Company was required to pay $40.0 million of the development milestone payments upon the passing 
of the second anniversary of the closing of the Agilis Merger, regardless of whether the applicable milestones have been 
achieved. 

Pursuant to the terms of the Rights Exchange Agreement, the Participating Rightholders canceled and forfeited their 
rights under the Agilis Merger Agreement to receive (i) $174.0 million, in the aggregate, of potential milestone payments 
based  on  the  achievement  of  certain  regulatory  milestones  and  (ii) $37.6 million,  in  the  aggregate,  of  $40.0 million  in 
development milestone payments that would have been due upon the passing of the second anniversary of the closing of 
the Agilis Merger, regardless of whether the milestones are achieved. 

The  Rights  Exchange  Agreement  has  no  effect  on  the  Agilis  Merger  Agreement  other  than  to  provide  for  the 
cancellation  and  forfeiture  of  the  Participating  Rightholders’  rights  to  receive  $211.6 million,  in  the  aggregate,  of  the 
milestone  payments  described  above.  As  a  result,  all  other  rights  and  obligations  under  the  Agilis  Merger  Agreement 
remain in effect pursuant to their terms, including the Company’s obligation to pay up to an aggregate maximum amount 
of $20.0 million upon the achievement of certain development milestones (representing the remaining portion of potential 
development  milestone  payments  for  which  rights  were  not  canceled  and  forfeited  pursuant  to  the  Rights  Exchange 
Agreement while excluding the remaining $2.4 million milestone payment that was due and paid upon the passing of the 
second anniversary of the closing of the Agilis Merger), up to an aggregate maximum amount of $361.0 million upon the 
achievement  of  certain  regulatory  milestones  (representing  the  remaining  portion  of  potential  regulatory  milestone 
payments for which rights were not canceled and forfeited pursuant to the Rights Exchange Agreement), up to a maximum 

191 

PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

aggregate amount of $150.0 million upon the achievement of certain net sales milestones and a percentage of annual net 
sales for Friedreich ataxia and Angelman syndrome during specified terms, ranging from 2% to 6%, pursuant to the terms 
of the Agilis Merger Agreement. 

In July 2022, the EC approved Upstaza for the treatment of AADC deficiency for patients 18 months and older within 
the EEA. As a result of such approval, the Company paid the former equityholders of Agilis $50.0 million in accordance 
with  the  terms  of  the  Agilis  Merger  Agreement  in  the  year  ended  December  31,  2022.  In  May  2023,  as  part  of  the 
Company’s  strategic  portfolio  prioritization,  the  Company  decided  to  discontinue  its  preclinical  and  early  research 
programs  in  its  gene  therapy  platform,  which  included  programs  for  Friedreich  ataxia  and  Angelman  syndrome.  As  a 
result, the Company does not expect the milestones related to Friedreich ataxia and Angelman syndrome to be achieved. 
In addition, the Company does not expect to pay the 2% to 6% royalties on annual net sales related to Friedreich ataxia 
and Angelman syndrome. As of December 31, 2023, the remaining potential development and regulatory milestones the 
Company expects to achieve is $31.1 million, and the remaining potential sales milestones the Company expects to achieve 
is $50.0 million, both of which relate solely to Upstaza. 

On  October 25,  2019,  the  Company  completed  the  acquisition  of  substantially  all  of  the  assets  of  BioElectron 
Technology Corporation (“BioElectron”), a Delaware corporation, including certain compounds that the Company has 
begun to develop as part of its Bio-e platform, pursuant to an asset purchase agreement by and between the Company and 
BioElectron, dated October 1, 2019 (the “BioElectron Asset Purchase Agreement”). BioElectron was a private company 
with a pipeline focused on inflammatory and central nervous system (CNS) disorders. The lead program, vatiquinone, is 
in late stage development for CNS disorders with substantial unmet need and significant commercial opportunity that are 
complementary to PTC’s existing pipeline. 

Subject to the terms and conditions of the BioElectron Asset Purchase Agreement, BioElectron may become entitled 
to receive contingent milestone payments of up to $200.0 million (in cash or in shares of the Company’s common stock, 
as  determined  by  the  Company)  from  the  Company  based  on  the  achievement  of  certain  regulatory  and  net  sales 
milestones.  Subject  to  the  terms  and  conditions  of  the  BioElectron  Asset  Purchase  Agreement,  BioElectron  may  also 
become entitled to receive contingent payments based on a percentage of net sales of certain products. 

Subject to the terms and conditions of the Agreement and Plan of Merger, dated as of May 5, 2020 (the “Censa Merger 
Agreement”) by and among the Company, Hydro Merger Sub, Inc., the Company’s wholly owned, indirect subsidiary, 
and, solely in its capacity as the representative, agent and attorney-in-fact of the securityholders of Censa, Shareholder 
Representative  Services  LLC  (such  merger  pursuant  thereto,  the  “Censa  Merger”),  former  Censa  securityholders  may 
become entitled to receive contingent payments from the Company based on (i) the achievement of certain development 
and regulatory milestones up to an aggregate maximum amount of $217.5 million for sepiapterin’s two most advanced 
programs and receipt of a priority review voucher from the FDA as set forth in the Censa Merger Agreement, (ii) $109.0 
million in development and regulatory milestones for each additional indication of sepiapterin, (iii) the achievement of 
certain net sales milestones up to an aggregate maximum amount of $160.0 million, (iv) a percentage of annual net sales 
during specified terms, ranging from single to low double digits of the applicable net sales threshold amount, and (v) any 
sublicense fees paid to the Company in consideration of any sublicense of Censa’s intellectual property to commercialize 
sepiapterin, on a country-by-country basis, which contingent payment shall equal to a mid-double digit percentage of any 
such sublicense fees. 

In February 2023, the Company completed enrollment of its Phase 3 placebo-controlled clinical trial for sepiapterin 
for PKU.  In connection with this event and pursuant to the Censa Merger Agreement, the Company paid a $30.0 million 
development milestone to the former Censa securityholders during the year ended December 31, 2023. The Company 
elected to pay this milestone in the form of shares of its common stock, less certain cash payments in accordance with the 

192 

 
PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

Censa Merger Agreement. Pursuant to such election, the Company issued 657,462 shares of its common stock and paid 
$0.4  million  to  the  former  Censa  securityholders.  The  Company  expects  to  make  payments  to  the  former  Censa 
securityholders of $65.0 million in the aggregate in cash upon the potential achievement in 2024 of regulatory milestones 
relating to sepiapterin pursuant to the Censa Merger Agreement. 

The Company also has the Tegsedi-Waylivra Agreement for the commercialization of Tegsedi and Waylivra, and 
products containing those compounds in countries in Latin America and the Caribbean. Akcea is entitled to receive royalty 
payments subject to certain terms set forth in the Tegsedi-Waylivra Agreement.  

The Company has employment agreements with certain employees which require the funding of a specific level of 
payments, if certain events, such as a change in control or termination without cause, occur. Additionally, the Company 
has royalty payments associated with Translarna, Emflaza, and Upstaza net product revenue, payable quarterly or annually 
in accordance with the terms of the related agreements. 

From time to time in the ordinary course of its business, the Company is subject to claims, legal proceedings and 

disputes. The Company is not currently aware of any material legal proceedings against it. 

15. Geographic information 

The Company views its operations and manages its business in one operating segment. The following table presents 

financial information based on the geographic location of the facilities of the Company as of and for the years ended: 

Total assets 
Fixed assets, net 
Revenue 

Total assets 
Fixed assets, net 
Revenue 

16. 401(k) plan 

      United States 

Year Ended December 31, 2023 
Non-US 

Total 

$ 
$ 
$ 

 1,582,962  
 86,421  
 531,661  

$ 
$ 
$ 

 312,736   
 668   
 406,161   

$ 
$ 
$ 

 1,895,698 
 87,089 
 937,822 

      United States 

Year Ended December 31, 2022 
Non-US 

Total 

$ 
$ 
$ 

 1,473,770  
 71,754  
 381,862  

$ 
$ 
$ 

 231,849   
 836   
 316,939   

$ 
$ 
$ 

 1,705,619 
 72,590 
 698,801 

The Company maintains a 401(k) plan for its employees. Employee contributions are voluntary. The Company may 
match employee contributions in amounts to be determined at the Company’s sole discretion. The Company provided an 
100% matching contribution for up to the first 6% of each contributing employee’s base salary contributions for the years 
ended December 31, 2023, 2022 and 2021, respectively. The Company made matching contributions to the 401(k) plan 
and recorded expense of approximately $10.9 million, $8.4 million, and $6.6 million for the years ended December 31, 
2023, 2022 and 2021, respectively. 

193 

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
     
     
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
     
     
 
 
 
 
 
PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

17. Intangible assets and goodwill 

Definite-lived intangibles 

Definite lived intangible assets consisted of the following at December 31, 2023 and 2022: 

Definite-lived 
intangibles assets, gross 
Emflaza 
Waylivra 
Tegsedi 
Upstaza 
Total definite-lived intangibles, gross 

 Ending Balance at 
December 31, 

  $ 

  $ 

2022     

 420,253  $
 9,316 
 7,109 
 89,550 
 526,228  $

Additions     
 107,164  $
 533 
 5,839 
 — 
 113,536  $

Foreign 
currency 
translation     

 —  $
 369 
 374 
 — 
 743  $

Ending Balance at 
December 31, 
2023 
 527,417 
 10,218 
 13,322 
 89,550 
 640,507 

Definite-lived 
intangibles assets, accumulated amortization 
Emflaza 
Waylivra 
Tegsedi 
Upstaza 
Total definite-lived intangibles, accumulated amortization 

 Ending Balance at 
December 31, 

Foreign 
currency 

2022       Amortization        translation     

 (266,023) $ 
 (2,751)
 (1,709)
 (3,420)
 (273,903) $ 

 (212,595) $ 
 (1,080)
 (1,498)
 (7,462)
 (222,635) $ 

 —  $

 (134)
 (104)
 — 
 (238) $

  $ 

  $ 

Ending Balance at 
December 31, 
2023 
 (478,618)
 (3,965)
 (3,311)
 (10,882)
 (496,776)

Total definite-lived intangibles, net 

$

 143,731 

Marathon  is  entitled  to  receive  contingent  payments  from  the  Company  based  on  annual  net  sales  of  Emflaza 
beginning  in  2018,  up  to  a  specified  aggregate  maximum  amount  over  the  expected  commercial  life  of  the  asset.  In 
accordance  with  the  guidance  for  an  asset  acquisition,  the  Company  records  the  milestone  payment  when  it  becomes 
payable to Marathon and increase the cost basis for the Emflaza rights intangible asset. For the year ended December 31, 
2023, milestone payments of $107.2 million were recorded. These payments are being amortized over the remaining useful 
life of the Emflaza rights asset on a straight line basis. As of December 31, 2023, a milestone payable to Marathon of $52.7 
million was recorded on the balance sheet within accounts payable and accrued expenses. 

Akcea is also entitled to receive royalty payments subject to certain terms set forth in the Tegsedi-Waylivra Agreement 
related to sales of Waylivra and Tegsedi. In accordance with the guidance for an asset acquisition, the Company records 
royalty payments when they become payable to Akcea and increase the cost basis for the Waylivra and Tegsedi intangible 
assets,  respectively.  For  the  year  ended  December  31,  2023,  royalty  payments  of  $5.8  million  and  $0.5  million  were 
recorded for Tegsedi and Waylivra, respectively. As of December 31, 2023, a royalty payable of $1.6 million and $0.4 
million for Tegsedi and Waylivra, respectively, was recorded on the balance sheet within accounts payable and accrued 
expenses. 

For the years ended December 31, 2023, 2022, and 2021, the Company recognized amortization expense of $222.6 
million, $116.6 million, and $54.8 million respectively, related to the Emflaza rights, Waylivra, Tegsedi, and Upstaza 
intangible assets. 

194 

 
 
 
 
 
 
 
 
 
 
 
 
 
 
      
   
   
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
    
 
 
 
 
 
 
 
 
 
 
 
 
 
 
  
 
 
 
 
 
PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

The estimated future amortization of the Emflaza rights, Waylivra, Tegsedi, and Upstaza intangible assets is expected 

to be as follows: 

2024 
2025 
2026 
2027 
2028 and thereafter 
Total 

  $ 

  $ 

As of December 31, 2023 

 59,312 
 10,512 
 10,512 
 10,512 
 52,883 
 143,731 

The  weighted average  remaining  amortization period of  the  definite-lived  intangibles as  of December 31,  2023  is 

6.4 years. 

Indefinite-lived intangibles 

Indefinite lived intangible assets consisted of the following at December 31, 2023 and 2022: 

Indefinite-lived 
intangibles assets 
Upstaza 
PTC-FA 
PTC-AS 
Total indefinite-lived 
intangibles 

Ending Balance at 
December 31, 

Reclass from 
Indefinite Lived to 

2022      Additions     

Definite Lived      Impairment     

  Foreign 
  currency 
 translation     

  $

 235,766  $
 112,500 
 105,300 

 —  $
 — 
 — 

 —  $
 — 
 — 

 —  $ 

 (112,500)
 (105,300)

 —  $
 — 
 — 

Ending Balance at 
December 31, 
2023 
 235,766 
 — 
 — 

  $

 453,566  $

 —  $

 —  $  (217,800) $ 

 —  $

 235,766 

Total intangible assets, 
net 

$

 379,497 

In connection with the acquisition of the Company’s gene therapy platform from Agilis, the Company acquired rights 
to Upstaza, for the treatment of AADC deficiency. AADC deficiency is a rare CNS disorder arising from reductions in the 
enzyme AADC that result from mutations in the dopa decarboxylase gene. The gene therapy platform also includes PTC-
FA, an asset targeting Friedreich ataxia, a rare and life-shortening neurodegenerative disease caused by a single defect in 
the FXN gene which causes reduced production of the frataxin protein. Additionally, the gene therapy platform includes 
two other programs targeting CNS disorders, including PTC-AS for Angelman syndrome, a rare, genetic, neurological 
disorder characterized by severe developmental delays. 

In accordance with the acquisition method of accounting, the Company allocated the acquisition cost for the Agilis 
Merger to the underlying assets acquired and liabilities assumed, based upon the estimated fair values of those assets and 
liabilities  at  the  date  of  acquisition.  The  Company  classified  the  fair  value  of  the  acquired  IPR&D  as  indefinite  lived 
intangible assets until the successful completion or abandonment of the associated research and development efforts. As 
of December 31, 2022, the value allocated to the indefinite lived intangible assets was $453.6 million.  

195 

 
 
 
 
 
 
     
 
  
 
  
 
  
 
  
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
    
 
 
 
 
 
 
 
 
PTC Therapeutics, Inc. 

Notes to consolidated financial statements (Continued) 

December 31, 2023 

(In thousands except share and per share amount) 

In  May  2023,  as  part  of  the  Company’s  strategic  portfolio  prioritization,  the  Company  decided  to  discontinue  its 
preclinical and early research programs in its gene therapy platform, which included PTC-FA and PTC-AS. As a result, 
the Company determined that the PTC-FA and PTC-AS indefinite-lived intangible assets were fully impaired and recorded 
impairment expense of $217.8 million during the second quarter of 2023, which is recorded as intangible asset impairment 
in the statement of operations. As of December 31, 2023, the remaining indefinite lived intangible asset balance is $235.8 
million, consisting solely of Upstaza, which the Company plans to continue to develop and commercialize. 

The Company performed an annual test for its indefinite-lived intangible asset as of October 1, 2023 and concluded 

that no impairment exists as of December 31, 2023. 

Goodwill 

As a result of the Agilis Merger on August 23, 2018, the Company recorded $82.3 million of goodwill. There have 
been no changes to the balance of goodwill since the date of the Agilis Merger. Accordingly, the goodwill balance as of 
December 31, 2023 and 2022 was $82.3 million. The Company performed an annual impairment test for goodwill as of 
October 1, 2023. The Company’s single reporting unit had a negative carrying value and thus the Company determined 
there was no impairment of goodwill. 

18. Subsequent events 

The Company has evaluated all subsequent events and transactions through the filing date. There were no material 

events that impacted the audited consolidated financial statements or disclosures. 

196 

 
 
Item 9.   Changes in and Disagreements with Accountants on Accounting and Financial Disclosure 

None. 

Item 9A.   Controls and Procedures. 

Evaluation of Disclosure Controls and Procedures 

Our management, with the participation of our Chief Executive Officer (principal executive officer) and Chief Financial 
Officer  (principal  financial  officer),  evaluated  the  effectiveness  of  our  disclosure  controls  and  procedures  as  of 
December 31, 2023. The term “disclosure controls and procedures”, as defined in Rules 13a-15(e) and 15d-15(e) under 
the Securities Exchange Act of 1934, as amended, or the Exchange Act, means controls and other procedures of a company 
that are designed to ensure that information required to be disclosed by a company in the reports that it files or submits 
under the Exchange Act is recorded, processed, summarized and reported, within the time periods specified in the SEC’s 
rules and  forms.  Disclosure  controls  and  procedures  include,  without  limitation,  controls  and  procedures  designed  to 
ensure that information required to be disclosed by a company in the reports that it files or submits under the Exchange 
Act  is  accumulated  and  communicated  to  the  company’s  management,  including  its  principal  executive  and  principal 
financial officers, as appropriate to allow timely decisions regarding required disclosure. Management recognizes that any 
controls and procedures, no matter how well designed and operated, can provide only reasonable assurance of achieving 
their objectives and management necessarily applies its judgment in evaluating the cost-benefit relationship of possible 
controls and procedures. Based on the evaluation of our disclosure controls and procedures as of December 31, 2023, our 
Chief Executive Officer and Chief Financial Officer concluded that, as of such date, our disclosure controls and procedures 
were effective at the reasonable assurance level. 

Management’s Report on Internal Control over Financial Reporting 

Our management is responsible for establishing and maintaining adequate internal control over financial reporting for our 
company.  Internal  control  over  financial  reporting  is  defined  in  Rule 13a-15(f) or  15d-15(f) promulgated  under  the 
Exchange  Act  as  a  process  designed  by,  or  under  the  supervision  of,  the  company’s  principal  executive  and  principal 
financial  officers  and  effected  by  the  company’s  board  of  directors,  management  and  other  personnel,  to  provide 
reasonable assurance regarding the reliability of financial reporting and the preparation of financial statements for external 
purposes  in  accordance  with  GAAP  and  includes  those  policies  and  procedures  that:  (i) pertain  to  the  maintenance  of 
records that, in reasonable detail, accurately and fairly reflect the transactions and dispositions of the assets of the company; 
(ii) provide reasonable assurance that transactions are recorded as necessary to permit preparation of financial statements 
in accordance with generally accepted accounting principles, and that receipts and expenditures of our company are being 
made only in accordance with authorizations of management and directors of the company; and (iii) provide reasonable 
assurance regarding prevention or timely detection of unauthorized acquisition, use, or disposition of our company’s assets 
that could have a material effect on the financial statements. 

Internal control over financial reporting is designed to provide reasonable assurance regarding the reliability of financial 
reporting and the preparation of financial statements prepared for external purposes in accordance with generally accepted 
accounting  principles.  Because  of  its  inherent  limitations,  internal  control  over  financial  reporting  may  not  prevent  or 
detect  misstatements.  Also, projections of  any  evaluation of  effectiveness  to future periods  are  subject  to  the risk  that 
controls may become inadequate because of changes in conditions, or that the degree of compliance with the policies or 
procedures may deteriorate. 

Our management, with the participation of our Chief Executive Officer (principal executive officer) and Chief Financial 
Officer  (principal  financial  officer),  assessed  the  effectiveness  of  our  internal  control  over  financial  reporting  as  of 
December 31,  2023.  In  making  this  assessment,  our  management  used  the  criteria  set  forth  in  the  Internal  Control—
Integrated Framework (2013) issued by the Committee of Sponsoring Organizations of the Treadway Commission. Based 
on  its  assessment,  management  concluded  that  our  internal  control  over  financial  reporting  was  effective  as  of 
December 31, 2023 based on those criteria. 

197 

The effectiveness of our internal control over financial reporting as of December 31, 2023, has been audited by Ernst & 
Young LLP, an independent registered public accounting firm, as stated in their report which appears herein. 

Changes in Internal Control over Financial Reporting 

No change in our internal control over financial reporting occurred during the year ended December 31, 2023 that has 
materially affected, or is reasonably likely to materially affect, our internal control over financial reporting. 

198 

 
 
Report of Independent Registered Public Accounting Firm 

To the Stockholders and the Board of Directors of PTC Therapeutics, Inc. 

Opinion on Internal Control over Financial Reporting  

We have audited PTC Therapeutics, Inc.’s internal control over financial reporting as of December 31, 2023, based on 
criteria established in Internal Control-Integrated Framework issued by the Committee of Sponsoring Organizations of the 
Treadway Commission (2013 framework) (the COSO criteria). In our opinion, PTC Therapeutics, Inc. (the Company) 
maintained, in all material respects, effective internal control over financial reporting as of December 31, 2023, based on 
the COSO criteria.  

We  also  have  audited,  in  accordance  with  the  standards  of  the  Public  Company  Accounting  Oversight  Board  (United 
States) (PCAOB), the accompanying consolidated balance sheets of the Company as of December 31, 2023 and 2022, the 
related consolidated statements of operations, comprehensive loss, stockholders' equity/ (deficit) and cash flows for each 
of the three years in the period ended December 31, 2023, and the related notes and our report dated February 29, 2024 
expressed an unqualified opinion thereon. 

Basis for Opinion  

The Company’s management is responsible for maintaining effective internal control over financial reporting and for its 
assessment of the effectiveness of internal control over financial reporting included in the accompanying Management’s 
Report on Internal Control Over Financial Reporting. Our responsibility is to express an opinion on the Company’s internal 
control over financial reporting based on our audit. We are a public accounting firm registered with the PCAOB and are 
required  to  be  independent  with  respect  to  the  Company  in  accordance  with  the  U.S.  federal  securities  laws  and  the 
applicable rules and regulations of the Securities and Exchange Commission and the PCAOB.  

We conducted our audit in accordance with the standards of the PCAOB. Those standards require that we plan and perform 
the audit to obtain reasonable assurance about whether effective internal control over financial reporting was maintained 
in all material respects.   

Our audit included obtaining an understanding of internal control over financial reporting, assessing the risk that a material 
weakness exists, testing and evaluating the design and operating effectiveness of internal control based on the assessed 
risk, and performing such other procedures as we considered necessary in the circumstances. We believe that our audit 
provides a reasonable basis for our opinion.  

Definition and Limitations of Internal Control Over Financial Reporting  

A company’s internal control over financial reporting is a process designed to provide reasonable assurance regarding the 
reliability  of  financial  reporting  and  the  preparation  of  financial  statements  for  external  purposes  in  accordance  with 
generally accepted accounting principles. A company’s internal control over financial reporting includes those policies 
and procedures that (1) pertain to the maintenance of records that, in reasonable detail, accurately and fairly reflect the 
transactions and dispositions of the assets of the company; (2) provide reasonable assurance that transactions are recorded 
as necessary to permit preparation of financial statements in accordance with generally accepted accounting principles, 
and that receipts and expenditures of the company are being made only in accordance with authorizations of management 
and  directors  of  the  company;  and  (3)  provide  reasonable  assurance  regarding  prevention  or  timely  detection  of 
unauthorized acquisition, use, or disposition of the company’s assets that could have a material effect on the financial 
statements.  

Because of its inherent limitations, internal control over financial reporting may not prevent or detect misstatements. Also, 
projections of any evaluation of effectiveness to future periods are subject to the risk that controls may become inadequate 
because of changes in conditions, or that the degree of compliance with the policies or procedures may deteriorate.  

/s/ Ernst & Young LLP 

199 

 
 
 
 
 
 
 
 
 
 
 
 
Iselin, New Jersey 
February 29, 2024 

Item 9B.   Other Information. 

Director and Officer Trading Arrangements 

A portion of the compensation of our directors and officers (as defined in Rule 16a-1(f) under the Securities Exchange Act 
of 1934, as amended, or the Exchange Act) is in the form of equity awards and, from time to time, directors and officers 
engage  in  open-market  transactions  with  respect  to  the  securities  acquired  pursuant  to  such  equity  awards  or  other 
Company securities, including to satisfy tax withholding obligations when equity awards vest or are exercised, and for 
diversification or other personal reasons. 

Transactions in Company securities by directors and officers are required to be made in accordance with our insider trading 
policy,  which  requires  that  the  transactions  be  in  accordance  with  applicable  U.S.  federal  securities  laws  that  prohibit 
trading  while  in  possession  of  material  nonpublic  information.  Rule  10b5-1  under  the  Exchange  Act  provides  an 
affirmative defense that enables directors and officers to prearrange transactions in Company securities in a manner that 
avoids concerns about initiating transactions while in possession of material nonpublic information. 

The following table describes, for the quarterly period covered by this report, each trading arrangement for the sale or 
purchase of Company securities adopted or terminated by our directors and officers that is either (1) a contract, instruction 
or  written  plan  intended  to  satisfy  the  affirmative  defense  conditions  of  Rule  10b5-1(c),  or  a  “Rule  10b5-1  trading 
arrangement”, or (2) a “non-Rule 10b5-1 trading arrangement” (as defined in Item 408(c) of Regulation S-K): 

Name 
(Title) 
Mark 
Boulding 
(Chief Legal 
Officer) 

Matthew 
Klein 
(Chief 
Executive 
Officer) 

Action Taken 
(Date of Action) 
Adoption 
(October 31, 
2023) 

Type of Trading 
Arrangement 
Rule 10b5-1 
trading 
arrangement 

Nature of Trading 
Arrangement  
Sale 

Adoption 
(December 28, 
2023) 

Sale 

Rule 10b5-1 
trading 
arrangement for 
sell-to-cover 
transactions for 
RSUs granted 
on December28, 
2023 

Aggregate Number 
of Securities  
Up to 215,899 
shares. 

Indeterminable (1) 

Duration of Trading 
Arrangement 
Until February 14, 
2025 or such earlier 
date upon which all 
transactions are 
completed. 
Until final 
settlement of RSUs 
on or around 
December 29, 2026  

(1) The number of shares subject to this RSU grant that will be sold to satisfy applicable tax withholding obligations upon 
vesting is unknown as the number will vary based on the extent to which vesting conditions are satisfied and the market 
price of the Company’s common stock at the time of settlement.  This trading arrangement provides for the automatic sale 
of  shares  that  would  otherwise  be  issuable  on  each  settlement  date  of  the  RSU  in  an  amount  sufficient  to  satisfy  the 
applicable withholding obligation, with the proceeds of the sale delivered to the Company in satisfaction of the applicable 
withholding obligation.  

Item 9C.  Disclosure Regarding Foreign Jurisdictions that Prevent Inspections. 

None. 

200 

 
 
   
 
 
 
 
 
 
 
 
 
 
 
 
 
201 

 
 
Item 10.   Directors, Executive Officers and Corporate Governance 

PART III 

The information required by this item as set forth under the captions “Proposal 1—Election of Directors”, “Executive 
Officers”, “Delinquent Section 16(a) Reports”, “Corporate Governance—Code of Conduct”, “Corporate Governance—
Director Nominations”, “Corporate Governance—Board Committees and Audit Committee”, and “Stockholder Proposals 
and Nominations for Director” in our Proxy Statement for the 2024 Annual Meeting of Shareholders is incorporated in 
this Annual Report on Form 10-K by reference. 

Code of Ethics 

We have adopted a written Code of Business Conduct and Ethics, which is a code of ethics that applies to our directors, 
officers and employees, including our principal executive officer, principal financial officer, principal accounting officer 
or controller, or persons performing similar functions. We have posted a current copy of the Code of Business Conduct 
and Ethics on the Corporate Governance page of the Investors section of our website, www.ptcbio.com, and it is available 
in print to any person who requests it. We intend to post on our website all disclosures that are required by applicable law, 
the rules of the Securities and Exchange Commission or the Nasdaq Global Select Market concerning any amendment to, 
or waiver from, any provision of the Code of Business Conduct and Ethics. 

Item 11.   Executive Compensation 

The information required by this item (other than the information required by Item 402(v) of Regulation S-K) as set forth 
in  under  the  captions  “Executive  Compensation”,  “2023  Director  Compensation”,  “Corporate  Governance—Risk 
Oversight”  and  “Corporate  Governance—Compensation  Committee  Interlocks  and  Insider  Participation”  in  our  Proxy 
Statement for the 2024 Annual Meeting of Shareholders is incorporated in this Annual Report on Form 10-K by reference. 

Item 12.   Security Ownership of Certain Beneficial Owners and Management and Related Stockholder Matters 

The  information  required  by  this  item  as  set  forth  under  the  captions  “Equity  Compensation  Plan  Information”  and 
“Principal  Stockholders”  in our  Proxy  Statement  for  the 2024  Annual  Meeting  of  Shareholders is  incorporated  in  this 
Annual Report on Form 10-K by reference. 

Item 13.   Certain Relationships and Related Transactions, and Director Independence 

The information required by this item as set forth under the captions “Corporate Governance—Policies and Procedures 
for Related Person Transactions”, “Corporate Governance—Related Person Transactions”, and “Corporate Governance—
Director  Independence”  in  our  Proxy  Statement  for  the  2024  Annual  Meeting  of  Shareholders  is  incorporated  in  this 
Annual Report on Form 10-K by reference. 

Item 14.   Principal Accountant Fees and Services 

The information required by this item as set forth under the caption “Proposal 2—Ratification of Election of Independent 
Registered Public Accounting Firm” in our Proxy Statement for the 2024 Annual Meeting of Shareholders is incorporated 
in this Annual Report on Form 10-K by reference. 

202 

 
 
Item 15.   Exhibits and Financial Statement Schedules 

Financial Statements 

PART IV 

The following statements and supplementary data are included in Part II, Item 8. of the Annual Report on Form 10-K. 

•  Reports of independent registered public accounting firm 

•  Consolidated Balance Sheets as of December 31, 2023 and 2022 

•  Consolidated Statements of Operations for the years ended December 31, 2023, 2022 and 2021 

•  Consolidated Statements of Comprehensive Loss for the years ended December 31, 2023, 2022 and 2021 

•  Consolidated Statements of Stockholders’ Equity/ (Deficit) for the years ended December 31, 2023, 2022 and 

2021 

•  Consolidated Statements of Cash Flows for the years ended December 31, 2023, 2022 and 2021 

•  Notes to Consolidated Financial Statements 

Exhibits 

Those  exhibits  required  to  be  filed  by  Item 601  of  Regulation S-K  are  listed  in  the  Exhibit Index  immediately 

preceding the exhibits hereto and such listing is incorporated herein by reference. 

Exhibit 
Number 

Exhibit Index 

Description of Exhibit 

2.1††  Asset Purchase Agreement, dated March 15, 2017, between PTC Therapeutics, Inc. and Complete Pharma
Holdings,  LLC  (f/k/a  Marathon  Pharmaceuticals,  LLC)  (incorporated  by  reference  to  Exhibit  2.1  to  the
Current Report on Form 8-K filed by the Registrant on March 16, 2017) 

2.2  Amendment  to  Asset  Purchase  Agreement,  dated  April  20,  2017,  between  PTC  Therapeutics,  Inc.  and
Complete  Pharma  Holdings,  LLC  (f/k/a  Marathon  Pharmaceuticals,  LLC)  (incorporated  by  reference  to
Exhibit 2.1 to the Current Report on Form 8-K filed by the Registrant on April 20, 2017) 

2.3†  Agreement and Plan of Merger, dated July 19, 2018, by and among PTC Therapeutics, Inc., Agility Merger
Sub, Inc., Agilis Biotherapeutics, Inc. and, solely in its capacity as equityholder representative, Shareholder
Representative Services LLC (incorporated by reference to Exhibit 2.1 to the Current Report on Form 8-K
filed by the Registrant on July 19, 2018) 

2.4*  Asset  Purchase  Agreement  by  and  between  PTC  Therapeutics,  Inc.  and  BioElectron  Technology
Corporation, dated October 1, 2019 (incorporated by reference to Exhibit 2.1 to the Current Report on Form
8-K filed by the Registrant on October 30, 2019) 

2.5*  Agreement and Plan of Merger, dated May 5, 2020, by and among PTC Therapeutics, Inc., Hydro Merger
Sub,  Inc.,  Censa  Pharmaceuticals  Inc.  and,  solely  in  its  capacity  as  securityholder  representative,
Shareholder Representative Services LLC (incorporated by reference to Exhibit 2.1 to the Current Report
on Form 8-K filed by the Registrant on May 6, 2020) 

203 

 
 
 
     
 
 
 
 
 
 
 
 
Exhibit 
Number 

Description of Exhibit 

3.1  Restated Certificate of Incorporation of the Registrant, as amended (incorporated by reference to Exhibit

3.1 to the Quarterly Report on Form 10-Q filed by the Registrant on July 29, 2021) 

3.2  Amended and Restated Bylaws of the Registrant, effective December 5, 2022 (incorporated by reference to

Exhibit 3.1 to the Current Report on Form 8-K filed by the Registrant on December 6, 2022) 

4.1  Description of Registered Securities (incorporated by reference to Exhibit 4.1 to the Annual Report on Form

10-K filed by the Registrant on February 22, 2022) 

4.2  Specimen Stock Certificate evidencing the shares of common stock (incorporated by reference to Exhibit
4.1 to the Registration Statement on Form S-1, as amended (File No. 333-188657), of the Registrant) 

4.3 

Indenture (including Form of Notes), dated as of September 20, 2019, by and between PTC Therapeutics,
Inc.  and  U.S.  Bank  National  Association,  a  national  banking  association,  as  trustee  (incorporated  by
reference to Exhibit 4.1 to the Current Report on Form 8-K filed by the Registrant on September 20, 2019)

10.1+  PTC Therapeutics, Inc. Amended and Restated 2013 Long-Term Incentive Plan (incorporated by reference

to Exhibit 10.1 to the Current Report on Form 8-K filed by the Registrant on June 9, 2022) 

10.2+  Form  of  Incentive  Stock  Option  Agreement  under  2013  Long  Term  Incentive  Plan—2013/2014
(incorporated by reference to Exhibit 10.11 to the Registration Statement on Form S-1, as amended (File
No. 333-188657), of the Registrant) 

10.3+  Form  of  Nonstatutory  Stock  Option  Agreement  under  2013  Long  Term  Incentive  Plan—2013/2014
(incorporated by reference to Exhibit 10.12 to the Registration Statement on Form S-1, as amended (File
No. 333-188657), of the Registrant) 

10.4+  Form of Nonqualified Stock Option Agreement Inducement Grant Agreement—2014-2022 (incorporated
by reference to Exhibit 10.14 to the Annual Report on Form 10-K filed by the Registrant on March 2, 2015)

10.5+  Form  of  Incentive  Stock  Option  Agreement  under  2013  Long  Term  Incentive  Plan—2014-2022
(incorporated by reference to Exhibit 10.15 to the Annual Report on Form 10-K filed by the Registrant on
March 2, 2015) 

10.6+  Form  of  Nonstatutory  Stock  Option  Agreement  under  2013  Long  Term  Incentive  Plan—2014-2022
(incorporated by reference to Exhibit 10.16 to the Annual Report on Form 10-K filed by the Registrant on
March 2, 2015) 

10.7+  Form  of  Nonstatutory  Stock  Option  Agreement  under  2013  Long  Term  Incentive  Plan—Non-employee
Director  (incorporated  by  reference  to  Exhibit  10.31  to  the  Annual  Report  on  Form  10-K  filed  by  the
Registrant on February 29, 2016) 

10.8+  Form  of  Restricted  Stock  Unit  Agreement  under  2013  Long  Term  Incentive  Plan  —2016-2022
(incorporated by reference to Exhibit 10.32 to the Annual Report on Form 10-K filed by the Registrant on
February 29, 2016) 

10.9+  Form of Restricted Stock Agreement under 2013 Long Term Incentive Plan —2017-2022 (incorporated by
reference to Exhibit 10.19 to the Annual Report on Form 10-K filed by the Registrant on March 16, 2017) 

10.10+  Form  of  Nonqualified  Restricted  Stock  Award  Agreement  Inducement  Grant  Agreement-2018
(incorporated by reference to Exhibit 99.3 to the Registration Statement on Form S-8 (File No. 333-229126),
of the Registrant) 

204 

 
 
 
     
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Exhibit 
Number 

Description of Exhibit 

10.11+  Form of Incentive Stock Option Agreement under Amended and Restated 2013 Long Term Incentive Plan
(incorporated by reference to Exhibit 10.18 to the Annual Report on Form 10-K filed by the Registrant on
February 21, 2023) 

10.12+  Form of Nonstatutory Stock Option Agreement under Amended and Restated 2013 Long Term Incentive
Plan (incorporated by reference to Exhibit 10.19 to the Annual Report on Form 10-K filed by the Registrant
on February 21, 2023) 

10.13+  Form of Nonstatutory Stock Option Agreement under Amended and Restated 2013 Long Term Incentive
Plan—Non-employee Director (incorporated by reference to Exhibit 10.20 to the Annual Report on Form
10-K filed by the Registrant on February 21, 2023) 

10.14+  Form of Restricted Stock Unit Agreement under Amended and Restated 2013 Long Term Incentive Plan
(incorporated by reference to Exhibit 10.21 to the Annual Report on Form 10-K filed by the Registrant on
February 21, 2023) 

10.15+  Amended  and  Restated  Employment  Agreement  between  the  Registrant  and  Mark  E.  Boulding
(incorporated by reference to Exhibit 10.22 to the Registration Statement on Form S-1, as amended (File
No. 333-188657), of the Registrant) 

10.16+  Amended and Restated Employment Agreement between the Registrant and Neil Almstead (incorporated
by reference to Exhibit 10.24 to the Registration Statement on Form S-1, as amended (File No. 333-188657),
of the Registrant) 

10.17†  Exclusive License and Supply Agreement, dated as of May 12, 2015, as amended, by and between Faes
Farma, S.A. and Complete Pharma Holdings, LLC (f/k/a Marathon Pharmaceuticals, LLC), as assigned by
Complete Pharma Holdings, LLC to the Registrant on April 20, 2017 (incorporated by reference to Exhibit
10.1 to the Quarterly Report on Form 10-Q filed by the Registrant on August 9, 2017) 

10.18†  Commercial  Manufacturing  Agreement,  dated  as  of  September  18,  2015,  as  amended,  by  and  between
Alcami  Corporation  (f/k/a/  AAI  Pharma  Services  Corp.)  and  Complete  Pharma  Holdings,  LLC  (f/k/a
Marathon Pharmaceuticals, LLC), as assigned by Complete Pharma Holdings, LLC to the Registrant on
April 20, 2017 (incorporated by reference to Exhibit 10.2 to the Quarterly Report on Form 10-Q filed by
the Registrant on May 3, 2022) 

10.19+  Employment  Agreement,  as  amended,  between  the  Registrant  and  Christine  Utter  (incorporated  by
reference to Exhibit 10.2 to the Quarterly Report on Form 10-Q filed by the Registrant on August 6, 2019) 

10.20†  License and Technology Transfer Agreement, dated December 23, 2015, by and among National Taiwan
University,  Professor  Wuh-Lian(Paul)  Hwu  and  Agilis  Biotherapeutics,  Inc.  (formerly  Agilis
Biotherapeutics,  LLC)  (incorporated  by  reference  to  Exhibit  10.3  on  Form  10-Q  filed  by  Registrant  on
November 5, 2018) 

10.21*  License and Technology Transfer Agreement Amendment No. 2, dated December 1, 2019, by and among
National Taiwan University, Professor Wu-Lian (Paul) Hwu and PTC Therapeutics GT, Inc. (incorporated
by reference to Exhibit 10.42 on Form 10-K filed by Registrant on March 2, 2020) 

10.22†  Collaboration  and  License  Agreement,  dated  August  1,  2018,  by  and  between  PTC  Therapeutics
International  Limited  and  Akcea  Therapeutics,  Inc.  (incorporated  by  reference  to  Exhibit  10.3  on  Form
10-Q filed by Registrant on November 5, 2018) 

205 

 
 
 
     
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Exhibit 
Number 

Description of Exhibit 

10.23  Amended and Restated 2016 Employee Stock Purchase Plan (incorporated by reference to Exhibit 10.1 to

the Current Report on Form 8-K filed by the Registrant on June 9, 2021) 

10.24*  Lease Agreement dated as of August 3, 2019, by and between Bristol-Myers Squibb Company and PTC
Therapeutics, Inc. (incorporated by reference to Exhibit 10.5 to the Quarterly Report on Form 10-Q filed by
the Registrant on October 30, 2019) 

10.25 

Irrevocable Standby Letter of Credit, dated September 3, 2019, issued by HSBC Bank USA, N.A. in favor
of Bristol-Myers Squibb Company for the Account of PTC Therapeutics, Inc., as amended (incorporated by
reference to Exhibit 10.6 to the Quarterly Report on Form 10-Q filed by the Registrant on October 30, 2019)

10.26+  2020  Inducement  Stock  Incentive  Plan  (incorporated  by  reference  to  Exhibit  99.3  to  the  Registration

Statement on Form S-8 (File No. 333-235823), of the Registrant) 

10.27+  Form of Inducement Option Agreement under the 2020 Inducement Stock Incentive Plan (incorporated by
reference  to  Exhibit  99.4  to  the  Registration  Statement  on  Form  S-8  (File  No.  333-235823),  of  the
Registrant) 

10.28+  Form  of  Inducement  Restricted  Stock  Agreement  under  the  2020  Inducement  Stock  Incentive  Plan
(incorporated by reference to Exhibit 99.5 to the Registration Statement on Form S-8 (File No. 333-235823),
of the Registrant) 

10.29+  Amendment No. 1 to 2020 Inducement Stock Incentive Plan (incorporated by reference to Exhibit 99.3 to

the Registration Statement on Form S-8 (File No. 333-251878) of the Registrant) 

10.30+  Amendment No. 2 to 2020 Inducement Stock Incentive Plan (incorporated by reference to Exhibit 99.1 to
Post-Effective Amendment No. 1 to the Registration Statement on Form S-8 (File No. 333-251878) of the
Registrant) 

10.31+  Amendment No. 3 to 2020 Inducement Stock Incentive Plan (incorporated by reference to Exhibit 99.4 to

the Registration Statement on Form S-8 (File No. 333-268851), of the Registrant) 

10.32*  First Amendment to Lease Agreement dated as of October 7, 2019 by and between Bristol-Myers Squibb
Company and PTC Therapeutics, Inc. (incorporated by reference to Exhibit 10.51 to the Annual Report on
Form 10-K filed by the Registrant on March 2, 2020) 

10.33*  Second Amendment to Lease Agreement dated as of March 25, 2020 by and between Bristol-Myers Squibb
Company and PTC Therapeutics, Inc. (incorporated by reference to Exhibit 10.1 to the Quarterly Report on
Form 10-Q filed by the Registrant on April 30, 2020) 

10.34*  License Agreement dated as of February 8, 2016, as amended, by and between Shiratori Pharmaceutical
Co. Ltd. and Censa Pharmaceuticals Inc. (incorporated by reference to Exhibit 10.1 to the Quarterly Report
on Form 10-Q filed by the Registrant on August 5, 2020) 

10.35+  Amended and Restated Employment Agreement between the Registrant and Matthew Klein (incorporated
by reference to Exhibit 10.1 to the Current Report on Form 8-K filed by the Registrant on April 18, 2023) 

10.36+  Employment Agreement, as amended, between the Registrant and Eric Pauwels (incorporated by reference
to Exhibit 10.4 to the Quarterly Report on Form 10-Q filed by the Registrant on August 5, 2020) 

206 

 
 
 
     
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Exhibit 
Number 

Description of Exhibit 

10.37*  Rights Exchange Agreement, by and among PTC Therapeutics, Inc., the Rightholders set forth therein, and,
for the limited purposes set forth therein, Shareholder Representatives Services LLC, dated as of April 29,
2020 (incorporated by reference to Exhibit 10.1 to the Current Report on Form 8-K filed by the Registrant
on April 30, 2020) 

10.38  At the Market Offering Sales Agreement, dated August 7, 2019, among PTC Therapeutics, Inc., Cantor
Fitzgerald & Co. and RBC Capital Markets, LLC (incorporated by reference to Exhibit 1.1 to the Current
Report on Form 8-K filed by the Registrant on August 7, 2019) 

10.39*  Lease Agreement dated May 24, 2022, between Warren CC Acquisitions, LLC and PTC Therapeutics, Inc.
(incorporated by reference to Exhibit 10.1 to the Quarterly Report on Form 10-Q filed by Registrant on
August 4, 2022) 

10.40 

Irrevocable Transferable Standby Letter of Credit, dated June 22, 2022, issued by HSBC Bank USA, N.A.
in  favor  of  Warren  CC  Acquisitions  LLC  c/o  Vision  Real  Estate  Partners  for  the  Account  of  PTC
Therapeutics, Inc. (incorporated by reference to Exhibit 10.2 to the Quarterly Report on Form 10-Q filed by
Registrant on August 4, 2022) 

10.41*  Letter Agreement re: Collaboration and License Agreement, dated July 25, 2022, by and between Akcea
Therapeutics, Inc. and PTC Therapeutics International Limited (incorporated by reference to Exhibit 10.1
to the Quarterly Report on Form 10-Q filed by Registrant on October 27, 2022) 

10.42*  Letter Agreement re: Collaboration and License Agreement, dated September 14, 2022, by and between
Akcea Therapeutics, Inc. and PTC Therapeutics International Limited (incorporated by reference to Exhibit
10.1 to the Quarterly Report on Form 10-Q filed by Registrant on October 27, 2022) 

10.43  Lease Agreement, dated as of July 11, 2000, as amended, between the Registrant and 46.24 Associates L.P.
(incorporated by reference to Exhibit 10.13 to the Registration Statement on Form S-1, as amended (File
No. 333 188657), of the Registrant) 

10.44†  License  and  Collaboration  Agreement,  dated  as  of  November  23,  2011,  as  amended,  by  and  among  the
Registrant,  F.  Hoffmann-La  Roche  Ltd  and  Hoffmann-La  Roche,  Inc.  and  Spinal  Muscular  Atrophy
Foundation  (incorporated  by  reference  to  Exhibit  10.14  to  the  Registration  Statement  on  Form  S-1,  as
amended (File No. 333 188657), of the Registrant) 

10.45*  Sponsored Research Agreement, as amended dated as of June 1, 2006, by and between the Registrant and
Spinal Muscular Atrophy Foundation (incorporated by reference to Exhibit 10.1 to the Quarterly Report on
Form 10-Q filed by Registrant on April 27, 2023)  

10.46*  Amendment No. 5 to License Agreement dated April 28, 2023 by and between Shiratori Pharmaceutical
Co. Ltd. and PTC Therapeutics MP, Inc. (incorporated by reference to Exhibit 10.1 to the Quarterly Report
on Form 10-Q filed by Registrant on August 3, 2023) 

10.47+  Employment Agreement between PTC Therapeutics, Inc. and Pierre Gravier (incorporated by reference to

Exhibit 10.1 to the Current Report on Form 8-K filed by the Registrant on July 17, 2023) 

10.48*  Amended and Restated Royalty Purchase Agreement, dated as of October 18, 2023, among the Registrant,
Royalty  Pharma  Investments  2019  ICAV,  and  solely  for  the  purposes  of  Section  5.15  thereof,  Royalty
Pharma plc** 

21.1  Subsidiaries of the Registrant (incorporated by reference to Exhibit 21.1 to the Annual Report on Form 10-

K filed by the Registrant on February 21, 2023) 

207 

 
 
 
     
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Exhibit 
Number 

Description of Exhibit 
23.1  Consent of Independent Registered Public Accounting Firm** 

24.1  Power of attorney (included on the signature page to this Form 10-K) 

31.1  Certification of Principal Executive Officer pursuant to Rule 13a-14(a) or Rule 15d-14(a) of the Securities

Exchange Act of 1934, as adopted pursuant to Section 302 of the Sarbanes-Oxley Act of 2002** 

31.2  Certification of Principal Financial Officer pursuant to Rule 13a-14(a) or Rule 15d-14(a) of the Securities

Exchange Act of 1934, as adopted pursuant to Section 302 of the Sarbanes-Oxley Act of 2002** 

32.1  Certification of  Principal  Executive Officer  pursuant  to 18 U.S.C.  Section  1350,  as  adopted pursuant  to

Section 906 of the Sarbanes-Oxley Act of 2002** 

32.2  Certification  of  Principal  Financial  Officer  pursuant  to  18  U.S.C.  Section  1350,  as  adopted  pursuant  to

Section 906 of the Sarbanes-Oxley Act of 2002** 

97.1  PTC Therapeutics, Inc. Clawback Policy** 

101.INS 

Inline XBRL Instance Document** 

101.SCH 

Inline XBRL Taxonomy Extension Schema Document** 

101.CAL 

Inline XBRL Taxonomy Extension Calculation Linkbase Document** 

101.LAB 

Inline XBRL Taxonomy Extension Label Linkbase Database** 

101.PRE 

Inline XBRL Taxonomy Extension Presentation Linkbase Document** 

101.DEF 

Inline XBRL Taxonomy Extension Definition Linkbase Document** 

104  Cover Page Interactive Data File (formatted Inline XBRL and contained in Exhibit 101) 

††  Confidential treatment has been granted as to certain portions, which portions have been omitted and separately filed 

with the Securities and Exchange Commission. 

†  Confidential treatment has been granted for certain portions that are omitted from this exhibit. The omitted information 
has been filed separately with the U.S. Securities and Exchange Commission (the “SEC”) pursuant to the registrant’s 
application  for  confidential  treatment.  In  addition,  schedules  have  been  omitted  from  this  exhibit  pursuant  to 
Item 601(b)(2) of Regulation S-K. A copy of any omitted schedule will be furnished supplementally to the SEC upon 
request; provided, however, that the registrant may request confidential treatment for any document so furnished. 

+  Management contract, compensatory plan or arrangement. 

*  Portions of this exhibit have been omitted pursuant to Item 601(b)(10)(iv) of Regulation S-K. 

**  Submitted electronically herewith. 

Stockholders  may  obtain  (without  charge)  a  copy  of  this  Annual  Report  on  Form 10-K  (including  the  financial 
statements and financial statement schedules) and a copy of any exhibit thereto (upon payment of a fee limited to 
our reasonable expenses in furnishing such exhibit) by writing to PTC Therapeutics, Inc., 100 Corporate Court, 
South Plainfield, New Jersey 07080. 

208 

 
 
 
     
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Item 16.     Form 10-K Summary 

None. 

209 

 
 
SIGNATURES 

Pursuant to the requirements to the requirements of Section 13 or 15(d) of the Securities Exchange Act of 1934, the 

registrant has duly caused this report to be signed on its behalf by the undersigned, thereunto duly authorized. 

PTC THERAPEUTICS, INC. 

Date:  February 29, 2024 

By: 

/s/ MATTHEW B. KLEIN, M.D. 
Matthew B. Klein, M.D. 
Chief Executive Officer 
(Principal Executive Officer) 

POWER OF ATTORNEY 

We, the undersigned officers and directors of PTC Therapeutics, Inc., hereby severally constitute and appoint Matthew 
B. Klein and Mark E. Boulding, and each of them singly (with full power to each of them to act alone), our true and lawful 
attorneys-in-fact and agents, with full power of substitution and resubstitution in each of them for him and in his name, 
place and stead, and in any and all capacities, to sign any and all amendments to this Annual Report on Form 10-K, and to 
file the same, with all exhibits thereto and other documents in connection therewith, with the Securities and Exchange 
Commission, granting unto said attorneys-in-fact and agents, and each of them, full power and authority to do and perform 
each and every act and thing requisite or necessary to be done in and about the premises, as full to all intents and purposes 
as he might or could do in person, hereby ratifying and confirming all that said attorneys-in-fact and agents or any of them, 
or their or his substitute or substitutes, may lawfully do or cause to be done by virtue hereof. 

Pursuant to the requirements to the requirements of the Securities Exchange Act of 1934, this report has been signed 

below by the following persons on behalf of the registrant and in the capacities and on the dates indicated. 

Dated: February 29, 2024 

Dated: February 29, 2024 

Dated: February 29, 2024 

Dated: February 29, 2024 

Dated: February 29, 2024 

Dated: February 29, 2024 

/s/ MATTHEW B. KLEIN, M.D. 
Mathew B. Klein, M.D. 
Chief Executive Officer and Director 

/s/ PIERRE GRAVIER 
Pierre Gravier 
Chief Financial Officer 
(Principal Financial Officer) 

/s/ CHRISTINE UTTER 
Christine Utter 
Chief Accounting Officer 
(Principal Accounting Officer) 

/s/ MICHAEL SCHMERTZLER 
Michael Schmertzler 
Director 

/s/ WILLIAM F. BELL, JR. 
William F. Bell, Jr. 
Director 

/s/ ALLAN JACOBSON 
Allan Jacobson 
Director 

By: 

By: 

By: 

By: 

By: 

By: 

210 

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Dated: February 29, 2024 

Dated: February 29, 2024 

Dated: February 29, 2024 

Dated: February 29, 2024 

Dated: February 29, 2024 

Dated: February 29, 2024 

Dated: February 29, 2024 

/s/ STEPHANIE S. OKEY 
Stephanie S. Okey 
Director 

/s/ EMMA REEVE 
Emma Reeve 
Director 

/s/ MARY SMITH 
Mary Smith 
Director 

/s/ DAVID P. SOUTHWELL 
David P. Southwell 
Director 

/s/ GLENN D. STEELE 
Glenn D. Steele  
Director 

/s/ ALETHIA YOUNG 
Alethia Young 
Director 

/s/ JEROME B. ZELDIS 
Jerome B. Zeldis 
Director 

By: 

By: 

By: 

By: 

By: 

By: 

By: 

211 

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Exhibit 23.1 

CONSENT OF INDEPENDENT REGISTERED PUBLIC ACCOUNTING FIRM 

We consent to the incorporation by reference in the following Registration Statements: 

(1)    Registration Statement (Form S-8 No. 333-194323) pertaining to the 2013 Long Term Incentive Plan and 

the Inducement Stock Option Award, 

(2)   Registration Statement (Form S-8 No. 333-189962) pertaining to the 2013 Long Term Incentive Plan, the 
2013  Stock  Incentive  Plan,  the  2009  Equity  and  Long  Term  Incentive  Plan,  as  amended,  and  the  1998 
Employee, Director and Consultant Stock Option Plan, as amended, 

(3)    Registration  Statement  (Form  S-8  No.  333-203485)  pertaining  to  the  Inducement  Stock  Option  Awards 

(April 2014 - January 2015), 

(4)    Registration Statement (Form S-8 No. 333-208830) pertaining to the 2013 Long Term Incentive Plan and 

Inducement Stock Option Awards (February 2015 – October 2015), 

(5)    Registration Statement (Form S-8 No. 333-211997) pertaining to the 2016 Employee Stock Purchase Plan 

and the Inducement Stock Option Awards (December 2015 – April 2016), 

(6)    Registration Statement (Form S-8 No. 333-215407) pertaining to the 2013 Long Term Incentive Plan and 

the Inducement Stock Option Awards (September 2016 – December 2016), 

(7)    Registration Statement (Form S-8 No. 333-222391) pertaining to the 2013 Long Term Incentive Plan and 

the Inducement Stock Option Awards (January 2017 – December 2017), 

(8)    Registration Statement (Form S-8 No. 333-229126) pertaining to the 2013 Long Term Incentive Plan and 

the Inducement Grant Awards (January 2018 – December 2018), 

(9)    Registration Statement (Form S-8 No. 333-235823) pertaining to the 2013 Long Term Incentive Plan, the 
Inducement Grant Awards (January 2019 – December 2019) and the 2020 Inducement Stock Incentive Plan, 
(10)  Registration Statement (Form S-8 No. 333-251878) pertaining to the 2013 Long Term Incentive Plan and 

the 2020 Inducement Stock Incentive Plan, as amended, 

(11)  Registration Statement (Form S-8 No. 333-262018) pertaining to the 2013 Long Term Incentive Plan and 

the Amended and Restated 2016 Employee Stock Purchase Plan, 

(12)  Registration Statement (Form S-8 No. 333-265803) pertaining to the Amended and Restated 2013 Long 

Term Incentive Plan, and 

(13)  Registration Statement (Form S-8 No. 333-268851) pertaining to the 2020 Inducement Stock Incentive Plan. 

of our reports dated February 29, 2024, with respect to the consolidated financial statements of PTC Therapeutics, 
Inc. and the effectiveness of internal control over financial reporting of PTC Therapeutics, Inc. included in this 
Annual Report (Form 10-K) of PTC Therapeutics, Inc. for the year ended December 31, 2023. 

/s/ Ernst & Young LLP 

Iselin, New Jersey 
February 29, 2024 

 
 
 
 
Exhibit 31.1 

I, Matthew B. Klein, certify that: 

1.           I have reviewed this Annual Report on Form 10-K of PTC Therapeutics, Inc.; 

CERTIFICATIONS 

2.           Based on my knowledge, this report does not contain any untrue statement of a material fact or omit to state a material fact 

necessary to make the statements made, in light of the circumstances under which such statements were made, not misleading 
with respect to the period covered by this report; 

3.           Based on my knowledge, the financial statements, and other financial information included in this report, fairly present in all 

material respects the financial condition, results of operations and cash flows of the registrant as of, and for, the periods 
presented in this report; 

4.           The registrant's other certifying officer and I are responsible for establishing and maintaining disclosure controls and 

procedures (as defined in Exchange Act Rules 13a-15(e) and 15d-15(e)) and internal control over financial reporting (as 
defined in Exchange Act Rules 13a-15(f) and 15d-15(f)) for the registrant and have: 

(a)          Designed such disclosure controls and procedures, or caused such disclosure controls and procedures to be designed 
under our supervision, to ensure that material information relating to the registrant, including its consolidated 
subsidiaries, is made known to us by others within those entities, particularly during the period in which this report 
is being prepared; 

(b)          Designed such internal control over financial reporting, or caused such internal control over financial reporting to be 

designed under our supervision, to provide reasonable assurance regarding the reliability of financial reporting and 
the preparation of financial statements for external purposes in accordance with generally accepted accounting 
principles; 

(c)          Evaluated the effectiveness of the registrant's disclosure controls and procedures and presented in this report our 

conclusions about the effectiveness of the disclosure controls and procedures, as of the end of the period covered by 
this report based on such evaluation; and 

(d)          Disclosed in this report any change in the registrant's internal control over financial reporting that occurred during 

the registrant's most recent fiscal quarter (the registrant's fourth fiscal quarter in the case of an annual report) that has 
materially affected, or is reasonably likely to materially affect, the registrant's internal control over financial 
reporting; and 

5.           The registrant's other certifying officer and I have disclosed, based on our most recent evaluation of internal control over 

financial reporting, to the registrant's auditors and the audit committee of the registrant's board of directors (or persons 
performing the equivalent functions): 

(a)          All significant deficiencies and material weaknesses in the design or operation of internal control over financial 

reporting which are reasonably likely to adversely affect the registrant's ability to record, process, summarize and 
report financial information; and 

(b)         Any fraud, whether or not material, that involves management or other employees who have a significant role in the 

registrant's internal control over financial reporting. 

Date: February 29, 2024 

By:  /s/ MATTHEW B. KLEIN, M.D. 

MATTHEW B. KLEIN, M.D. 
Chief Executive Officer 
(Principal Executive Officer) 

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Exhibit 31.2 

I, Pierre Gravier, certify that: 

1.           I have reviewed this Annual Report on Form 10-K of PTC Therapeutics, Inc.; 

CERTIFICATIONS 

2.           Based on my knowledge, this report does not contain any untrue statement of a material fact or omit to state a material fact 

necessary to make the statements made, in light of the circumstances under which such statements were made, not misleading 
with respect to the period covered by this report; 

3.           Based on my knowledge, the financial statements, and other financial information included in this report, fairly present in all 

material respects the financial condition, results of operations and cash flows of the registrant as of, and for, the periods 
presented in this report; 

4.           The registrant's other certifying officer and I are responsible for establishing and maintaining disclosure controls and 

procedures (as defined in Exchange Act Rules 13a-15(e) and 15d-15(e)) and internal control over financial reporting (as 
defined in Exchange Act Rules 13a-15(f) and 15d-15(f)) for the registrant and have: 

(a)          Designed such disclosure controls and procedures, or caused such disclosure controls and procedures to be designed 
under our supervision, to ensure that material information relating to the registrant, including its consolidated 
subsidiaries, is made known to us by others within those entities, particularly during the period in which this report 
is being prepared; 

(b)          Designed such internal control over financial reporting, or caused such internal control over financial reporting to be 

designed under our supervision, to provide reasonable assurance regarding the reliability of financial reporting and 
the preparation of financial statements for external purposes in accordance with generally accepted accounting 
principles; 

(c)          Evaluated the effectiveness of the registrant's disclosure controls and procedures and presented in this report our 

conclusions about the effectiveness of the disclosure controls and procedures, as of the end of the period covered by 
this report based on such evaluation; and 

(d)          Disclosed in this report any change in the registrant's internal control over financial reporting that occurred during 

the registrant's most recent fiscal quarter (the registrant's fourth fiscal quarter in the case of an annual report) that has 
materially affected, or is reasonably likely to materially affect, the registrant's internal control over financial 
reporting; and 

5.           The registrant's other certifying officer and I have disclosed, based on our most recent evaluation of internal control over 

financial reporting, to the registrant's auditors and the audit committee of the registrant's board of directors (or persons 
performing the equivalent functions): 

(a)         All significant deficiencies and material weaknesses in the design or operation of internal control over financial 

reporting which are reasonably likely to adversely affect the registrant's ability to record, process, summarize and 
report financial information; and 

(b)         Any fraud, whether or not material, that involves management or other employees who have a significant role in the 

registrant's internal control over financial reporting. 

Date: February 29, 2024 

By:  /s/ PIERRE GRAVIER 

Pierre Gravier 
Chief Financial Officer 
(Principal Financial Officer) 

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
CERTIFICATION PURSUANT TO 18 U.S.C. SECTION 1350, 
AS ADOPTED PURSUANT TO 
SECTION 906 OF THE SARBANES-OXLEY ACT OF 2002 

Exhibit 32.1 

In connection with the Annual Report on Form 10-K of PTC Therapeutics, Inc. (the "Company") for the period ended 
December 31, 2023 as filed with the Securities and Exchange Commission on the date hereof (the "Report"), the undersigned, 
Matthew B. Klein, Chief Executive Officer of the Company, hereby certifies, pursuant to 18 U.S.C. Section 1350, that to his 
knowledge: 

(1)   the Report fully complies with the requirements of Section 13(a) or 15(d) of the Securities Exchange Act of 1934; and 

(2)   the information contained in the Report fairly presents, in all material respects, the financial condition and results of 

operations of the Company. 

Date: February 29, 2024 

By:  /s/ MATTHEW B. KLEIN, M.D. 

Matthew B. Klein, M.D. 
Chief Executive Officer 
(Principal Executive Officer) 

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
CERTIFICATION PURSUANT TO 18 U.S.C. SECTION 1350, 
AS ADOPTED PURSUANT TO 
SECTION 906 OF THE SARBANES-OXLEY ACT OF 2002 

Exhibit 32.2 

In connection with the Annual Report on Form 10-K of PTC Therapeutics, Inc. (the "Company") for the period ended 

December 31, 2023 as filed with the Securities and Exchange Commission on the date hereof (the "Report"), the undersigned, Pierre 
Gravier, Principal Financial Officer of the Company, hereby certifies, pursuant to 18 U.S.C. Section 1350, that to his knowledge: 

(1)   the Report fully complies with the requirements of Section 13(a) or 15(d) of the Securities Exchange Act of 1934; and 

(2)   the information contained in the Report fairly presents, in all material respects, the financial condition and results of 

operations of the Company. 

Date: February 29, 2024 

By: 

/s/ PIERRE GRAVIER 
Pierre Gravier 
Chief Financial Officer 
(Principal Financial Officer) 

 
 
 
 
 
 
 
 
 
 
 
 
 
 
Board of Directors

Michael Schmertzler
Chairman

Emma Reeve
Independent Board Director

Matthew B. Klein, M.D., M.S., FACS 
Chief Executive Officer, PTC

Mary L. Smith
The VENG Group

William F. Bell, Jr.
Managing Director and Head of Healthcare 
Services Practice, L.E.K. Consulting

Allan Jacobson, Ph.D.
University of Massachusetts Chan 
Medical School

Stephanie S. Okey, M.S.
Former SVP, Head of North America, Rare 
Disease – Genzyme

David P. Southwell
Former CEO, TScan Therapeutics

Glenn D. Steele, Jr., M.D., Ph.D.
Chairman, GSteele Health Solutions

Alethia Young
Chief Financial Officer, Bicycle 
Therapeutics

Jerome B. Zeldis, M.D.
NexImmune, Inc.

Stock Performance Graph

The following graph illustrates a comparison of the total cumulative stockholder return 
on the Common Stock of PTC Therapeutics’ Stock from investing on Jan. 1, 2017 through 
Dec. 31, 2023 in two indices: The NASDAQ Biotechnology Index (NBI) and the NASDAQ 
Composite Index (IXIC). Data for the NASDAQ Biotechnology Index (NBI) and the 
NASDAQ Composite Index (IXIC) assume reinvestment of dividends. The stockholder 
return shown in the graph below is not necessarily indicative of future performance, and 
we do not make or endorse any predictions as to future stockholder returns.

$400

$350

$300

$250

$200

$150

$100

$50

0

Dec. 31,
2017

Dec. 31,
2018

Dec. 31,
2019

Dec. 31,
2020

Dec. 31,
2021

Dec. 31,
2022

Dec. 31,
2023

PTCT

IXIC

NBI

* The information contained in this Stock Performance Graph shall not be deemed “soliciting 

material” or to be “filed” with the SEC, for purposes of Section 18 of the Securities Exchange Act of 

1934, as amended, or the Exchange Act, or otherwise subject to the liabilities under that Section, and 

shall not be deemed to be incorporated by reference into any filing of under the Securities Act of 

1933 or Securities Exchange Act of 1934, each as amended, except to the extent that we specifically 

incorporate it by reference into such filing

Dec. 31, 
2017

Dec. 31, 
2018

Dec. 31, 
2019

Dec. 31, 
2020

Dec. 31, 
2021

Dec. 31, 
2022

Dec. 31, 
2023

PTCT

$100 

$206 

$288 

$366 

$239 

$229 

$165 

IXIC

$100 

$96 

$130 

$187 

$227 

$152 

$217 

NBI

$100 

$91 

$113 

$142 

$141 

$125 

$130 

8

Executive Committee

Matthew B. Klein, M.D., M.S., FACS
Chief Executive Officer

Neil Almstead, Ph.D.
Chief Technical Operations Officer

John Baird, Ph.D.
Chief of Staff to the CEO

Mark E. Boulding
Executive Vice President 
and Chief Legal Officer

Lee Golden, M.D.
Chief Medical Officer

Pierre Gravier
Chief Financial Officer

Mary Frances Harmon
Senior Vice President, Corporate 
and Patient Relations

Kylie O’Keefe
Chief Commercial Officer

Eric Pauwels
Chief Business Officer

Hege Sollie-Zetlmayer
Senior Vice President, 
Human Resources

Christine Utter
Senior Vice President, Chief 
Accounting Officer and 
Head of People Services

Stockholder Information

Market Information
PTC’s common stock trades 
on the NASDAQ Global Market 
under the ticker symbol PTCT.

Global Corporate Headquarters
PTC Therapeutics, Inc. 
500 Warren Corporate Center Drive 
Warren, NJ 07059

International Headquarters
PTC Therapeutics 
International Limited 
5th Floor, 3 Grand Canal Plaza 
Grand Canal Street Upper 
Dublin D04 EE70 Ireland

Annual Meeting
The Annual Meeting of the 
Stockholders will be held on 
Tuesday, June 18, 2024 at 9 a.m. ET. 
The meeting will be held in a virtual 
format via live webcast. There will 
not be a physical meeting location 
and Stockholders will not be able to 
attend the Annual Meeting in person.

Transfer Agent
American Stock Transfer 
6201 15th Avenue 
Brooklyn, NY 11219

Independent Registered 
Public Accounting Firm
Ernst and Young 
99 Wood Avenue South 
Iselin, NJ 08830

Global Corporate Headquarters

PTC Therapeutics, Inc.

500 Warren Corporate Center Drive

Warren, NJ 07059

International Headquarters

PTC Therapeutics International Limited

5th Floor

3 Grand Canal Plaza

Grand Canal Street Upper

Dublin D04 EE70 Ireland

For more information visit

www.ptcbio.com