Votoplam

– First quarter 2026 total revenue of $273 million, including $226 million of product revenue, supporting full-year 2026 guidance raise – – Global Sephience™ (sepiapterin) launch momentum continues with first quarter 2026 revenue of $125 million, representing 36% quarter-over-quarter growth – – Positive topline results from 24-month interim analysis of PIVOT-HD extension study of votoplam, supporting ongoing global Phase 3 INVEST-HD study and potential regulatory interactions – – Open-label vatiquinone registration study to be initiated in Q3 2026 based on FDA feedback – WARREN, N.J., May 7, 2026 /PRNewswire/ -- PTC Therapeutics, Inc., (NASDAQ: PTCT) today announced a corporate update and financial results for the first quarter ended March 31, 2026. "We are off to a strong start to 2026 with outstanding revenue performance this quarter that supports raising our full-year product revenue guidance," said Matthew B. Klein, M.D., Chief Executive Officer. "The Sephience launch continues to be strong, with sustained momentum in the US and growing momentum internationally as more countries contribute to the global launch." Key Corporate Updates Q1 2026 total revenue of $273 million, with $226 million of product revenue Sephience global launch continues strong momentum Q1 2026 revenue of $125 million, including $112 million revenue in the US and $13 million revenue ex-US, up 36% from Q4 2025 1,244 total patients on commercial therapy worldwide as of March 31, 2026 Continued strong cadence of patient start forms in the US, with ~140 per month over past several months, surpassing 1,500 mark in the quarter First commercial sales in Japan in Q1 2026, with revenue expected from up to 30 countries by year-end 2026 Reported positive topline results in April 2026 from 24-month interim analysis of PIVOT-HD long-term extension study of votoplam, an oral small molecule splicing agent Dose-dependent benefit on cUHDRS in Stage 2 participants relative to natural history cohort, with 52% slowing of disease progression at 10 mg dose Continued favorable safety and tolerability with no treatment-related NfL spikes PTC and Novartis will complete data review and align on potential regulatory interactions Findings support ongoing global Phase 3 INVEST‑HD study of votoplam led by Novartis First patient dosed in Phase 3 INVEST-HD study, triggering $50 million milestone payment from Novartis to PTC in Q2 2026 Type C meeting with FDA held in April 2026 to discuss vatiquinone study to support NDA resubmission for Friedreich's ataxia program Based on meeting discussion and written feedback, PTC expects to initiate an open-label study using matched natural history control in Q3 2026 Primary endpoint will be change in mFARS from baseline to 24 months First Quarter 2026 Financial Highlights Total net product revenue and royalty revenue was $272.4 million for the first quarter of 2026, compared to $189.9 million for the first quarter of 2025. Total net product revenue across the commercial portfolio was $225.6 million for the first quarter of 2026, compared to $153.4 million for the first quarter of 2025, representing a 47% increase. Sephience net product revenues were $124.6 million for the first quarter of 2026, representing 36% growth compared to fourth quarter of 2025. Translarna™ (ataluren) net product revenues were $59.0 million for the first quarter of 2026, compared to $86.2 million for the first quarter of 2025. Translarna first quarter of 2026 revenue includes a large government purchase order from Brazil. Emflaza® (deflazacort) net product revenues were $21.5 million for the first quarter of 2026, compared to $47.8 million for the first quarter of 2025, due to continued generic erosion. Roche reported Evrysdi® (risdiplam) sales of approximately 464 CHF million, resulting in royalty revenue of $46.8 million to PTC for the first quarter of 2026, compared to $36.4 million to PTC for the first quarter of 2025. Based on US GAAP (Generally Accepted Accounting Principles), GAAP R&D expenses were $100.9 million for the first quarter of 2026, compared to $109.0 million for the first quarter of 2025. Non-GAAP R&D expenses were $89.7 million for the first quarter of 2026, excluding $11.1 million in non-cash, stock-based compensation expense, compared to $100.3 million for the first quarter of 2025, excluding $8.7 million in non-cash, stock-based compensation expense. GAAP SG&A expenses were $86.2 million for the first quarter of 2026, compared to $81.0 million for the first quarter of 2025. Non-GAAP SG&A expenses were $73.9 million for the first quarter of 2026, excluding $12.3 million in non-cash, stock-based compensation expense, compared to $71.6 million for the first quarter of 2025, excluding $9.4 million in non-cash, stock-based compensation expense. Net loss was $2.8 million for the first quarter of 2026, compared to net income of $866.6 million for the first quarter of 2025. Cash, cash equivalents, and marketable securities were $1,892.5 million on March 31, 2026, compared to $1,945.4 million on December 31, 2025. Shares issued and outstanding as of March 31, 2026, were 82,882,024. PTC Updates Full-Year 2026 Financial Guidance Total product revenue guidance raised to $750 to $850 million, with expected total revenue of $1.08 to $1.18 billion GAAP R&D and SG&A expense guidance remains $775 to $815 million Non-GAAP R&D and SG&A expense guidance remains $680 to $720 million, excluding estimated non-cash, stock-based compensation expense of $95 million Non-GAAP Financial Measures In this press release, the financial results of PTC are provided in accordance with GAAP and using certain non-GAAP financial measures. In particular, the non-GAAP R&D and SG&A expense financial measures exclude non-cash, stock-based compensation expense. These non-GAAP financial measures are provided as a complement to financial measures reported in accordance with GAAP because management uses these non-GAAP financial measures when assessing and identifying operational trends. In management's opinion, these non-GAAP financial measures are useful to investors and other users of PTC's financial statements by providing greater transparency into the historical and projected operating performance of PTC and the company's future outlook. Non-GAAP financial measures are not an alternative for financial measures prepared in accordance with GAAP. Quantitative reconciliations of the non-GAAP financial measures to their respective closest equivalent GAAP financial measures are included in the table below. Acronyms CHF: Confoederatio Helvetica Francs (Swiss francs) cUHDRS: Composite Unified Huntington's Disease Rating Scale DMD: Duchenne muscular dystrophy FA: Friedreich's ataxia FDA: US Food and Drug Administration GAAP: Generally Accepted Accounting Principles HD: Huntington's disease mFARS: Modified Friedreich's Ataxia Rating Scale NDA: New Drug Application NfL: Neurofilament light chain nmDMD: Nonsense mutation Duchenne muscular dystrophy PKU: Phenylketonuria R&D: Research and Development SG&A: Selling, General, and Administrative Today's Conference Call and Webcast Reminder To access the live webcast, please visit the "Events & Presentations" page within the Investors section of the PTC website. A replay of the webcast will be available on the PTC website for 30 days following the event. To participate via phone, please register in advance here to receive dial-in details. About PTC Therapeutics, Inc. PTC is a global biopharmaceutical company dedicated to the discovery, development and commercialization of clinically differentiated medicines for children and adults living with rare disorders. PTC is advancing a robust and diversified pipeline of transformative medicines as part of its mission to provide access to best-in-class treatments for patients with unmet medical needs. The company's strategy is to leverage its scientific expertise and global commercial infrastructure to optimize value for patients and other stakeholders. To learn more about PTC, please visit and follow on LinkedIn, X, Facebook and Instagram. For more information please contact: Investors: Ellen Cavaleri +1 (615) 618-8228 [email protected] Media: Jeanine Clemente +1 (908) 912-9406 [email protected] Forward-Looking Statements: This press release contains forward-looking statements within the meaning of The Private Securities Litigation Reform Act of 1995. All statements contained in this release, other than statements of historic fact, are forward-looking statements, including the information provided under the heading "PTC Updates Full-Year 2026 Financial Guidance", including with respect to (i) 2026 total product revenue guidance and total revenue guidance and (ii) 2026 GAAP and non-GAAP R&D and SG&A expense guidance, and statements regarding: the future expectations, plans and prospects for PTC, including with respect to the expected timing of clinical trials and studies, availability of data, regulatory submissions and responses, meetings with regulatory agencies, commercialization and other matters with respect to its products and product candidates; PTC's strategy, future operations, future financial position, future revenues, projected costs; and the objectives of management. Other forward-looking statements may be identified by the words, "guidance," "plan," "anticipate," "believe," "estimate," "expect," "intend," "may," "target," "potential," "will," "would," "could," "should," "continue," "aim," and similar expressions. PTC's actual results, performance or achievements could differ materially from those expressed or implied by forward-looking statements it makes as a result of a variety of risks and uncertainties, including those related to: the outcome of pricing, coverage and reimbursement negotiations with third party payors for PTC's products or product candidates that PTC commercializes or may commercialize in the future; expectations with respect to Sephience, including any regulatory submissions and potential approvals, commercialization, and the potential achievement of sales milestones and contingent payments that PTC may be obligated to make; PTC's ability to maintain its marketing authorization of Translarna for the treatment of nmDMD in geographies in which it has been approved and the effect of the European Commission's adoption of the negative opinion from the Committee for Medicinal Products for Human Use (CHMP) on Translarna and the withdrawal of the Translarna NDA in the US on other regulatory bodies; expectations with respect to PTC's license and collaboration agreement with Novartis Pharmaceuticals Corporation for votoplam for the treatment of Huntington's disease including its right to receive development, regulatory and sales milestones, profit sharing and royalty payments from Novartis, the design and expected timing of clinical trials and studies, the availability of data, and regulatory submissions and responses, including potential accelerated approval; expectations with respect to Upstaza/Kebilidi, including commercialization, manufacturing capabilities, and the potential achievement of sales milestones and contingent payments that PTC may be obligated to make; expectations with respect to vatiquinone, including with respect to the design and expected timing of clinical trials and studies, the availability of data, and regulatory submissions and responses and potential approvals and other matters; expectations with respect to the commercialization of Evrysdi under PTC's SMA collaboration; expectations with respect to the commercialization of Tegsedi and Waylivra; significant business effects, including the effects of industry, market, economic, political or regulatory conditions; changes in tax and other laws, regulations, rates and policies; the eligible patient base and commercial potential of PTC's products and product candidates; PTC's scientific approach and general development progress; PTC's ability to satisfy its obligations under the terms of its lease agreements; the sufficiency of PTC's cash resources and its ability to obtain adequate financing in the future for its foreseeable and unforeseeable operating expenses and capital expenditures; and the factors discussed in the "Risk Factors" section of PTC's Annual Report on Form 10-K, as well as any updates to these risk factors filed from time to time in PTC's other filings with the SEC. You are urged to carefully consider all such factors. As with any pharmaceutical under development, there are significant risks in the development, regulatory approval and commercialization of new products. There are no guarantees that any product will receive or maintain regulatory approval in any territory, or prove to be commercially successful, including Sephience, Translarna, Emflaza, Upstaza, Kebilidi, Evrysdi, Tegsedi or Waylivra. The forward-looking statements contained herein represent PTC's views only as of the date of this press release and PTC does not undertake or plan to update or revise any such forward-looking statements to reflect actual results or changes in plans, prospects, assumptions, estimates or projections, or other circumstances occurring after the date of this press release except as required by law. SOURCE PTC Therapeutics, Inc. 21% more press release views with Request a Demo

Bringing medical advances from the lab to the clinic. （👆，征战罕见病，我们一起努力。） 根据卫健委公布的罕见病目录（共两批，207种），美国Healsan恒祥医学科技将持续对所有罕见病进行解读和大数据分析，以其能够为从事罕见病研究的生物制药公司、医生科学家及患者提供一些有用的信息。 👇对于罕见病患者来说，最难的就是第一时间找到合适的医生确诊和治疗；本专辑通过大数据分析找到对罕见病有研究的医生及医院的信息。 （点击👆，获取研究罕见病的医生信息） 导语有些疾病最可怕的地方，不是突然降临，而是它早早写在基因里，却要很多年后才真正露面。亨廷顿舞蹈病（Huntington Disease, HD）就是这样一种病：一个家族里，可能先是有人手脚不自主乱动、走路不稳、说话含糊；后来又有人情绪暴躁、抑郁、冲动、记忆和判断力下降。外人看起来像“精神状态不好”“性格变了”“年纪轻轻怎么像痴呆”，但背后真正的原因，可能是 HTT 基因 CAG 重复扩增带来的神经退行性改变。中国已经把亨廷顿病纳入《罕见病诊疗指南（2019年版）》对应病种体系，中国罕见病服务平台也将其列为第47种进行介绍。今天，HD 仍然没有真正意义上的根治药，但从对症控制舞蹈症，到降低突变 huntingtin 蛋白、RNA 药物、基因治疗，全球研发正在把这个曾经几乎只能等待进展的疾病，推向新的转折点。 一、它不是“舞蹈样动作”这么简单，而是一场跨越运动、精神和认知的神经退行 亨廷顿舞蹈病是一种常染色体显性遗传的神经系统变性病，核心病因是 4 号染色体上 HTT/IT15 基因 CAG 三核苷酸重复异常扩增，使突变 huntingtin 蛋白产生毒性，病理损害尤其集中在尾状核和壳核等纹状体区域。它的典型三联征是运动障碍、精神症状和认知障碍：早期可表现为面部、躯干和四肢不自主舞蹈样动作，也可先出现抑郁、易激惹、焦虑、淡漠、冲动或精神病性症状；随着病程进展，患者会出现执行功能下降、判断力变差、吞咽困难、体重下降，最终可能发展为痴呆和卧床。全球流行病学差异很大，中国罕见病服务平台引用的口径为：全球患病率约 2.7/10万、年发病率约 0.38/10万；欧洲、北美、澳大利亚约 5.7/10万，亚洲约 0.4/10万。中国目前仍被认为总体患病率较低，但多中心研究已报道 2008—2018 年间来自中国东南部三家中心的 322 名 CAG 扩增携带者，提示它并非“没有”，而是高度依赖家族史、神经科识别和基因检测。 二、研究亨廷顿舞蹈病（Huntington Disease, HD）的大数据分析（2026) 我们针对亨廷顿舞蹈病（Huntington Disease, HD）做了基于SCI论文的大数据分析报告，通过分析SCI论文，找到亨廷顿舞蹈病（Huntington Disease, HD）临床科研中的中国专家。 特别需要说明的是，该报告只是提供了针对特定疾病的临床科研水平突出的医生，欲进一步确定该医生的临床水平，请结合该医生所在医院同事、或者其他医院小同行的评价。 另外，该报告仅限于使用的检索词范围内，具有局限性；且排序与临床水平无关。 特别声明： 本期为第一版，仅作抛砖引玉用；如果您发现推文有疏漏或者任何错误，请随时与文末的科研助手联系，我们会在第二版中更新。 检索数据库：Medline 检索工具：Healsan™大数据 检索及分析机构：Healsan LLC（美国恒祥医学科技） 检索词： 从2020/01/01开始截止目前，全球共发表亨廷顿舞蹈病（Huntington Disease, HD）研究论文6708篇，其中中国学者发表的论文数量为838篇。 我们对中国学者在该领域发表的论文（包括合作论文）进行了大数据分析。 （SCI论文的时间） 研究最活跃的中国医院 如果按照发表的SCI论文累计影响因子的次序，在该领域发表SCI论文累计影响因子最高的是四川大学华西医院，发表了15篇该领域的研究论文；其他位居前列的医院依次为： 四川大学华西医院。 复旦大学附属华山医院。 上海交通大学医学院附属瑞金医院。 中国医科大学附属盛京医院。 首都医科大学附属北京天坛医院。 郑州大学第一附属医院。 中山大学附属第一医院。 中南大学湘雅医院。 暨南大学附属第一医院。 四川省人民医院。 (单位统计。备注：只统计第一作者的论文所在单位；即，论文检索下载后，每篇论文只保留第一作者的单位，然后统计每个单位的论文数。当同一单位有不同拼写时，PubMed会按照两个不同单位处理。) 最活跃的中国医学专家 如果按照发表的SCI论文累计影响因子的次序，在该疾病研究中发表SCI论文累计影响因子最高的中国医生是： 李世华（Li, Shihua） 单位：广东省非人灵长类动物模型研究重点实验室；中枢神经再生教育部重点实验室；暨南大学粤港澳中枢神经再生研究院。 殷鹏（Yin, Peng） 单位：生物活性分子与成药性优化全国重点实验室；广东省非人灵长类动物模型研究重点实验室；中枢神经再生教育部重点实验室；暨南大学粤港澳中枢神经再生研究院。 陈生弟（Chen, Shengdi） 单位：上海交通大学医学院附属瑞金医院神经内科；上海交通大学医学院神经病学研究所；上海科技大学免疫化学研究所神经退行性疾病转化研究实验室。 李晓江（Li, Xiaojiang） 单位：广东省非人灵长类动物模型研究重点实验室；暨南大学粤港澳中枢神经再生研究院。 吴志英（Wu, Zhiying） 单位：浙江大学医学院附属第二医院医学遗传科；罕见病诊治中心；浙江省罕见病精准医学与临床转化重点实验室；南湖脑机交叉研究院。 鲁伯埙（Lu, Boxun） 单位：医学神经生物学国家重点实验室；脑科学前沿科学中心；新基石科学实验室；复旦大学生命科学学院。 闫森（Yan, Sen） 单位：暨南大学附属第六医院；生物活性分子与成药性优化全国重点实验室；广东省生物活性分子与创新药物发现基础研究卓越中心；广东省非人灵长类动物模型研究重点实验室；暨南大学粤港澳中枢神经再生研究院；暨南大学附属口腔医院；南方医科大学口腔医学院；广州市红十字会医院神经内科。 谢俊霞（Xie, Junxia） 单位：青岛大学脑科学与疾病研究院；青岛大学神经退行性疾病省级协同创新中心；青岛大学神经系统疾病发病机制与防治省级重点实验室。 姜道华（Jiang, Daohua） 单位：中国科学院物理研究所软物质与生物物理实验室；中国科学院大学。 张伟锋（Zhang, Weifeng） 单位：陕西师范大学生命科学学院生物化学系基因治疗实验室。 （该领域最活跃的研究者。备注：只统计第一作者和最后一位作者署名发表的论文数。 如果作者的名字有不同拼写时，会被PubMed当成不同作者。如张三丰的拼写可能会有：Zhang,Sanfeng、Zhang,San-feng、或者Zhang,San Feng等不同拼写方式；部分期刊可能只会写Zhang,S，PubMed检索平台就会按照不同作者处理。） 中国专注该疾病的医生学术圈如下所示。 （中国医生科学家及其学术网） 三、HD患者不是“无处可去”，只是很多入口还藏在罕见病体系和患者组织里 在中国，亨廷顿病家庭最需要知道的是：它不是一个完全游离于制度之外的疾病。国家卫生健康委 2019 年印发《罕见病诊疗指南（2019年版）》，明确用于提高罕见病规范化诊疗水平、保障医疗质量和患者健康权益；中国罕见病服务平台也收录了“亨廷顿病”的概述、病因、流行病学、临床表现和诊疗信息。现实中，最相关的政府部门包括：国家卫生健康委及各地卫健委，负责罕见病指南、协作网和诊疗能力建设；国家药监局及药审中心 CDE，关系到创新药、基因治疗和罕见病药物临床审评；国家医保局及地方医保部门，则影响对症药物、康复、长期照护和未来新药可及性。公益和患者支持方面，中国已有更贴近 HD 的患者组织：风信子亨廷顿舞蹈症关爱中心公开介绍其成立于 2016 年，致力于为全国 HD 患者发声、提供支持、改善生活质量；此外，中国罕见病联盟、病痛挑战基金会、蔻德罕见病中心 CORD等综合型罕见病平台，也可为家庭提供信息、社群、政策和公益支持。四、真正改写HD命运的，不只是“控制舞蹈症”，而是谁能率先让疾病慢下来 从产业端看，HD 治疗正在从“对症控制”走向“改病程”。目前已获 FDA 批准、主要用于控制 HD 舞蹈症的药物，核心是 VMAT2 抑制剂：包括 tetrabenazine、Teva 的 deutetrabenazine/AUSTEDO，以及 Neurocrine Biosciences 的 valbenazine/INGREZZA；这些药能减轻不自主运动，但并不能逆转疾病根源。真正让行业关注的是降低 mutant huntingtin 或改变疾病进程的疗法：Roche/Ionis 的反义寡核苷酸 tominersen 正在 GENERATION HD2 研究中评估早期患者；uniQure 的 AAV 基因治疗 AMT-130 在 2025 年公布 36 个月积极数据；PTC Therapeutics/Novartis 的口服小分子剪接调节剂 PTC518/votoplam 已显示降低 HTT 蛋白并推动后续临床；Wave Life Sciences 的 WVE-003 主打等位基因选择性降低突变 huntingtin；Skyhawk Therapeutics 的 SKY-0515 则作为口服 RNA 剪接调节剂进入 Phase 2/3 FALCON-HD。换句话说，HD 研发的关键词已经从“让动作少一点”，变成了“能不能让疾病慢一点”。结尾 亨廷顿舞蹈病最残酷的地方，是它不仅影响一个人，也常常影响一个家族：父母、兄弟姐妹、子女，都可能在同一条遗传风险线上等待答案。它让患者失去的不只是行动能力，还有情绪稳定、判断力、工作能力和家庭关系；它让家属承受的不只是照护压力，还有“要不要检测”“要不要生育”“孩子会不会遗传”的长期焦虑。但今天的 HD，已经不再只是一个只能被动等待的病。中国有了诊疗指南、患者组织和罕见病支持平台；全球研发也正在从对症药走向 RNA、基因治疗和小分子调控。对 HD 来说，最重要的第一步，是别把它误认为“性格变差”或“动作怪一点”；真正要做的是把家族史、运动症状、精神变化和认知下降连起来，尽早进入神经专科、遗传咨询和长期管理。因为对这种病来说，命名不是终点，而是和时间赛跑的起点。 声明： A, 本报告为PubMed检索平台仅以检索式报告的结果进行的可视化报告。 B, 大数据分析无任何排名意义。 C，本推文很可能存在谬误；也请各位同仁多多指正，以促进我们提供越来越高质量的推文。 D，如果您是从事该疾病临床诊治的医生，并希望更多人知道您，请把您的姓名、单位、出诊时间、及挂号方式发给科研助手；我们会集中收集后统一发布。请联系微信号Healsan E，本文仅为学术交流，不构成任何临床建议。 本公众号由美国Healsan (恒祥医学科技)运营。投稿及商务联系微信号：healsan 提供特惠码：MELT99，可以获得优惠。 美国Healsan专长于Healsan医学大数据分析（Healsan™）、及基于大数据的Hanson临床科研服务（HansonCR™）和医学编辑服务（MedEditing™）。主要为医生科学家、生物制药公司和医院科研处等提供文献计量分析和SCI论文润色、编辑、选刊等服务，成为诸多机构的“临床科研外挂”。 网址： https://healsan.com/ （👆，征战罕见病，我们在行动！） ▼ Healsan医路成长更多免费资源： （点击👆图片，进入自己感兴趣的专辑。或点击“资源”，浏览本公众号所有资源）