Vatiquinone

遗传性小脑萎缩共济失调（Hereditary Ataxia, HA）是一组以小脑功能障碍为核心表现的神经退行性罕见病，具有高度异质性——不同亚型的遗传模式、致病机制、临床表型差异显著，这也导致其治疗研发长期面临“精准分型难、靶向给药难”的双重困境。 截至2026年3月，全球HA治疗已从“单纯对症支持”向“疾病修饰治疗”加速突破，尤其是弗里德赖希共济失调（FRDA）已迎来首款疾病修饰药物，脊髓小脑共济失调（SCA）等核心亚型的在研管线也进入关键临床阶段。一、HA核心分型：以遗传模式为基准，聚焦临床常见亚型 HA的分类核心以“遗传模式”为首要依据，结合致病基因、临床特点可分为四大类，其中常染色体显性遗传的脊髓小脑共济失调（SCA）与常染色体隐性遗传的弗里德赖希共济失调（FRDA），占据临床HA病例的80%以上，是研发布局的核心方向。精准基因检测是HA分型的核心前提，尤其是SCA各亚型、FRDA，基因型明确直接决定后续治疗方案选择及在研药物适配性。 遗传模式 代表亚型 致病机制 临床特点 发病率 常染色体显性（ADCA） 脊髓小脑共济失调（SCA）：SCA1、SCA2、SCA3（最常见）、SCA6、SCA7；齿状核红核苍白球路易体萎缩症（DRPLA）；发作性共济失调（EA） SCA：CAG三核苷酸重复扩增（编码多聚谷氨酰胺）；DRPLA：ATN1基因扩增 成年起病为主，渐进性共济失调（步态异常、肢体震颤），可伴锥体束/锥体外系症状、认知障碍 SCA占所有HA的60%，SCA3在中国占SCA病例的45%-55% 常染色体隐性（ARCA） 弗里德赖希共济失调（FRDA）；共济失调毛细血管扩张症（AT） FRDA：FXN基因GAA重复扩增，致frataxin蛋白缺失；AT：ATM基因突变 FRDA：青少年起病，伴心肌病、糖尿病；AT：伴免疫缺陷、肿瘤易感性 FRDA是最常见的隐性HA，全球发病率约1:40,000 X连锁 脊髓延髓共济失调（SMAX1） ATP7A基因突变 罕见，儿童起病，伴铜代谢异常 极罕见，临床病例报道不足百例 线粒体遗传 MELAS、MERRF 线粒体DNA突变 多系统受累，伴乳酸升高、癫痫、肌病 极罕见，多为散发病例 二、全球药物研发格局：上市药物稀缺，在研管线聚焦精准靶向 目前HA治疗仍以“对症支持”为基础，改善共济失调症状、延缓疾病进展；疾病修饰疗法（可逆转/阻断疾病进程）是重点研发方向，其中基因沉默（ASO/RNAi）、小分子靶向、基因疗法已取得突破性进展。1、脊髓小脑共济失调（SCA）：无疾病修饰药，在研管线冲刺中 SCA是HA中最常见的亚型，目前全球尚无获批的疾病修饰药物，仅日本有一款对症治疗药物上市；在研管线以“基因沉默技术”和“小分子神经保护”为核心，聚焦SCA3等高发亚型，多个药物进入临床关键阶段。 药物名称 研发公司 作用机制 适应症 研发状态 他替瑞林（Taltirelin/Ceredist） 日本味之素 促甲状腺激素释放激素（TRH）类似物 SCA、脊髓小脑变性 日本获批（2000年） FY015A 中国安天圣施 反义寡核苷酸（ASO），沉默突变ATXN3 mRNA SCA3 中国IIT临床（首例给药2024.6） CRD-002 Cure Rare Disease ASO，沉默突变ATXN3基因 SCA3 临床前 AMT-150 uniQure AAV递送miRNA，沉默突变ATXN3 SCA3 临床I/II期筹备 Troriluzole（VYGLXIA） Biohaven 第三代利鲁唑前药，增强谷氨酸清除 SCA1/2/3/6/7等多亚型 NDA被FDA拒绝（2025.11），计划补充数据重提2、弗里德赖希共济失调（FRDA）：唯一有疾病修饰药上市 FRDA是目前HA中唯一有获批疾病修饰药物的亚型，2022年首款药物上市后，多款在研药物进入后期临床，2026年有望迎来第二款上市药物，治疗格局逐步完善。 药物名称 研发公司 作用机制 研发状态 关键节点 奥马佐洛酮（Omaveloxolone/Skyclarys） Reata Nrf2激活剂，抗氧化、抗炎 FDA/EMA获批（2022年） 首个FRDA疾病修饰药物，可显著改善患者运动功能 Nomlabofusp（CTI-1601） Larimar 重组融合蛋白，靶向递送frataxin蛋白，线粒体铁代谢 临床III期 FDA授予突破性疗法（BTD），2026年6月计划提交BLA，寻求加速批准 DT-216 Design Therapeutics 小分子，增强FXN基因剪接 临床I/II期 2026年下半年公布多剂量研究数据 EPI-743 PTC Therapeutics 抗氧化剂，减轻线粒体氧化应激 临床III期 重点评估运动功能与心肌病改善效果3、其他罕见亚型：研发滞后，多处于临床前阶段除SCA、FRDA外，DRPLA、共济失调毛细血管扩张症（AT）、发作性共济失调（EA）等亚型因发病率极低，研发布局相对滞后，目前尚无上市药物，仅少数早期项目在研发中。 三、总结与展望目前HA研发的核心方向集中在两大领域：一是基因沉默技术（ASO/RNAi），精准靶向突变基因，从根源阻断毒性蛋白产生，是SCA、DRPLA等亚型的核心研发路径；二是小分子药物，以“线粒体功能修复”（FRDA）、“神经兴奋性毒性抑制”（SCA）为主要策略，兼顾安全性与可及性。2026年将是HA治疗研发的关键一年：Nomlabofusp有望成为第二款FRDA上市药物；Troriluzole补充临床数据后或重新提交NDA，有望填补SCA疾病修饰药空白；国产SCA3 ASO药物FY015A将推进临床数据读出，助力国产罕见病药物研发。遗传性小脑萎缩共济失调作为罕见病领域的“难治性疾病”，近年来随着基因编辑、RNAi等技术的发展，研发格局已实现从“无药可治”到“有药可期”的转变。2026年，随着多款核心在研药物的临床推进，有望进一步打破治疗困境，为全球HA患者带来新的希望。 往期精选：1、继ADC之后的下一个新赛道：全球临床阶段的抗体核酸偶联药物（AOC）玩家大盘点！2、一文读懂AOC（Antibody-Oligonucleotide Conjugator）：抗体核酸偶联药物的作用机制与研发困局!3、2026年前两月FDA批准首次进入临床一期的5款小分子药物全解析：涵盖炎症、肿瘤、神经退行性疾病！4、2026，FDA获批新药预测TOP10：基于最新三期临床数据，这些药物将改写临床治疗格局！5、国产KRas G12C四强争霸？从药物设计到临床疗效，一文读懂四款新药的前世今生！

– Full-year 2025 product and royalty revenue of $831M, exceeding guidance – – Strong Sephience™ (sepiapterin) uptake since 2H 2025 launch with fourth quarter and 2025 revenue of $92M and $111M, respectively – – Cash of $1.95B as of December 31, 2025 – WARREN, N.J., Feb. 19, 2026 /PRNewswire/ -- PTC Therapeutics, Inc., (NASDAQ: PTCT) today announced a corporate update and financial results for the fourth quarter and full year ending December 31, 2025. "We delivered another strong quarter and finish to 2025, building on the successful global launch of Sephience," said Matthew B. Klein, M.D., Chief Executive Officer of PTC Therapeutics. "With our robust commercial engine, innovative R&D programs, and strong financial position, we look forward to continued success as we approach cash flow breakeven." Key Corporate Highlights Full-year 2025 product and royalty revenue of $831 million, exceeding guidance Global launch of Sephience off to strong start Q4 2025 revenue of $92 million, including $81 million revenue in the US and $11 million revenue ex-US Sephience total net revenue of $111 million in 2025 since launch 946 total patients on commercial therapy worldwide as of December 31, 2025 1,134 patient start forms received in the US as of December 31, 2025 Approval in Japan in December 2025; approval in Brazil in February 2026 Sephience global footprint expected to increase to 20 to 30 countries by end of 2026 In December 2025, PTC sold the remainder of its Evrysdi® (risdiplam) royalty to Royalty Pharma for $240 million upfront and up to $60 million in sales-based milestones; PTC maintains the right to receive a $150 million milestone from Roche based on single-year Evrysdi sales of $2.5 billion End-of-Phase 2 meeting with FDA held in Q4 2025 to discuss the votoplam Huntington's disease (HD) program Alignment reached on design of global Phase 3 trial, INVEST-HD, which is planned to initiate in 1H 2026 FDA confirmed openness for potential Accelerated Approval pathway given significant unmet need Type C meeting with FDA held in December 2025 to discuss the vatiquinone Friedreich's ataxia program; FDA indicated that an additional study would be necessary to support NDA resubmission and meeting minutes stated that this could be an open-label study with a natural history control group Fourth Quarter and Full Year 2025 Financial Highlights Total revenues were $164.7 million for the fourth quarter of 2025, compared to $213.2 million for the fourth quarter of 2024. Total revenues were $1,730.7 million for full year 2025, compared to $806.8 million for full year 2024. Included in total revenues is collaboration and license revenue of $998.4 million for the full year 2025, related to the votoplam license and collaboration agreement with Novartis, which closed in January 2025. Total net product revenues were $184.0 million for the fourth quarter of 2025, compared to $150.1 million for the fourth quarter of 2024. Total net product revenues were $586.7 million for full year 2025, compared to $582.1 million for full year 2024. Translarna™ (ataluren) net product revenues were $39.0 million for the fourth quarter of 2025, compared to $89.1 million for the fourth quarter of 2024. Translarna net product revenues were $235.3 million for full year 2025, compared to $321.1 million for full year 2024. Emflaza® (deflazacort) net product revenues were $27.1 million for the fourth quarter of 2025, compared to $50.5 million for the fourth quarter of 2024. Emflaza net product revenues were $146.4 million for full year 2025, compared to $207.2 million for full year 2024. Roche reported Evrysdi full year 2025 sales of approximately 1,757 CHF million, resulting in royalty revenue of $244.2 million to PTC for full year 2025, compared to $203.9 million to PTC for full year 2024. Based on U.S. GAAP (Generally Accepted Accounting Principles), GAAP R&D expenses were $133.1 million for the fourth quarter of 2025, compared to $124.8 million for the fourth quarter of 2024. GAAP R&D expenses were $455.2 million for full year 2025, compared to $534.5 million for full year 2024. Non-GAAP R&D expenses were $124.3 million for the fourth quarter of 2025, excluding $8.8 million in non-cash, stock-based compensation expense, compared to $116.0 million for the fourth quarter of 2024, excluding $8.8 million in non-cash, stock-based compensation expense. Non-GAAP R&D expenses were $419.6 million for full year 2025, excluding $35.7 million in non-cash, stock-based compensation expense, compared to $497.9 million for full year 2024, excluding $36.6 million in non-cash, stock-based compensation expense. GAAP SG&A expenses were $96.9 million for the fourth quarter of 2025, compared to $84.7 million for the fourth quarter of 2024. GAAP SG&A expenses were $347.1 million for full year 2025, compared to $300.9 million for full year 2024. Non-GAAP SG&A expenses were $87.2 million for the fourth quarter of 2025, excluding $9.7 million in non-cash, stock-based compensation expense, compared to $76.3 million for the fourth quarter of 2024, excluding $8.4 million in non-cash, stock-based compensation expense. Non-GAAP SG&A expenses were $308.3 million for full year 2025, excluding $38.9 million in non-cash, stock-based compensation expense, compared to $262.9 million for full year 2024, excluding $38.0 million in non-cash, stock-based compensation expense. Net loss was $135.0 million for the fourth quarter of 2025, compared to net loss of $65.9 million for the fourth quarter of 2024. Net income was $682.6 million for full year 2025, compared to net loss of $363.3 million for full year 2024. Cash, cash equivalents, and marketable securities were $1,945.4 million on December 31, 2025, compared to $1,139.7 million on December 31, 2024. Shares issued and outstanding as of December 31, 2025, were 81,474,366. Full Year 2026 Financial Guidance Total product revenue of $700 to $800 million, representing a 19 to 36% increase from 2025, with the majority from Sephience GAAP R&D and SG&A expense of $775 to $815 million Non-GAAP R&D and SG&A expense of $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) DMD: Duchenne muscular dystrophy FA: Friedreich's ataxia FDA: U.S. Food and Drug Administration GAAP: Generally Accepted Accounting Principles HD: Huntington's disease NDA: New Drug Application 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 call by phone, please click here to register and you will be provided with dial-in details. The webcast conference call can be accessed on the Investors section of the PTC website at . A replay of the call will be available after completion of the call and will be archived on the company's website. 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, Instagram and Facebook. For more Information Investors Ellen Cavaleri +1 (615) 618-6228 [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 "Full Year 2026 Financial Guidance", including with respect to (i) 2026 total product 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 U.S. 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