Vatiquinone

2025年，AAV基因治疗行业正处于"冰点期"与技术突破的交织点——跨国药企相继退出，却有产品持续商业化加速。 本文梳理全球已上市AAV产品企业的销售表现、管线战略及临床进展，为行业观察者提供全景视角。 Novartis：Zolgensma的重磅与安全挑战 Novartis的Zolgensma（脊髓性肌萎缩症SMA治疗）曾创造年销超10亿美元的"重磅炸弹"奇迹，但2022年因2名患儿急性肝衰竭死亡被加黑框警告。 尽管面临安全挑战，Novartis对AAV管线仍持积极态度：其SMA扩展适应症仍在III期临床推进，显示公司对AAV在神经肌肉疾病领域的长期信心。 CSL Behring/uniQure：HEMGENIX的高价博弈 HEMGENIX（血友病B治疗）以350万美元/剂成为"全球最贵药物"，2023年上市后市场接纳度加速，但美国初期渗透因支付审批复杂、患者筛选严格慢于预期。 uniQure负责生产，CSL推动商业化——两者均未放弃AAV管线：uniQure的技术平台仍支持新载体开发，CSL则持续优化支付模式以提升市场渗透。 Roche/Spark：Luxturna的销售滑坡与战略收缩 Roche旗下Spark的Luxturna（视网膜疾病）2023年销售额暴跌59%，从5000万美元降至2000万美元。 这导致Roche对Spark启动"根本性重组"，商誉减值24亿美元。 Roche的态度反映其对AAV管线的谨慎：可能将资源转向更成熟的眼科小分子或生物药领域。 BioMarin：ROCTAVIAN的血友病A突破 BioMarin的ROCTAVIAN（血友病A）2023年获FDA批准、EMA有条件批准。 截至2025年，其III期试验仍是全球AAV血友病管线的关键注册研究。 BioMarin持续加码AAV在血液疾病的应用，将其视为"一次性治愈"血友病的核心技术路径。 PTC Therapeutics：Upstaza的安全优势与管线扩展 PTC的Upstaza（芳香族L-氨基酸脱羧酶缺乏症）免疫原性数据优异：多数患者体内抗AAV2抗体与严重不良事件无明确关联。 PTC对AAV管线持开放态度，除Upstaza外，还在推进Sepiapterin（苯丙酮尿症PKU）、Vatiquinone（弗里德里希共济失调FA）等罕见病疗法，部分依赖AAV载体技术。 国内企业：锦篮、天泽云泰的临床突破 国内企业正成为AAV赛道的新势力： 锦篮基因的GC101（SMA）是国内首个进入III期临床的鞘内给药AAV疗法，潜在受益人群较Zolgensma扩大2.3倍； 天泽云泰的VGB-R04（血友病B）获CDE临床试验批准。 这些进展显示国内企业在AAV领域的快速崛起，正从罕见病向常见病（如代谢性肝病）拓展。 总结：冰点期的曙光与破局方向 AAV行业虽处"冰点期"，但技术突破（新型衣壳设计、免疫规避如外泌体包装）与资本重新布局（如Kriya Therapeutics获3.2亿美元融资）仍带来曙光。 上市企业中，Novartis、BioMarin、PTC及国内企业保持积极投入，而Roche、Sarepta则收缩调整。 未来，AAV的商业化成功将依赖三大方向： 安全性提升：降低肝毒性、免疫原性（如锦篮GC101的鞘内给药减少肝脏暴露）； 成本控制：通过CDMO（如药明生基的TESSA™技术）降低生产费用； 适应症扩展：从罕见病向糖尿病、心衰等常见病跨越。 AAV的"冰与火之歌"仍在继续，唯有技术与商业的双重突破，才能让"一次性治愈"的梦想惠及更多患者。 （注：本文数据来自2025年公开报告，详细临床进展可参考等搜索来源。） 精彩内容推荐： 风暴眼中的“奇迹”：追踪售价320万美元基因药Elevidys的致死事件Zolgensma：基因疗法的里程碑，如何重塑脊髓性肌萎缩症治疗格局？最近AAV领域有哪些负面消息，包括但不限于AAV给药后患者死亡或发生严重不良事件，停止或裁撤AAV相关产品等全球首例跨血脑屏障基因疗法暂停！儿童死亡敲响警钟从"救命神药"到4例死亡：基因疗法明星AT132的陨落与警示

– Initiated US and EU launch of Sephience™ (sepiapterin) – – Strong initial Sephience uptake with global revenue of $19.6M and 521 start forms in the US as of September 30 – – Robust Q3 performance with total revenue of $211M – – Full-year 2025 revenue guidance narrowed to $750 - $800M – WARREN, N.J., Nov. 4, 2025 /PRNewswire/ -- PTC Therapeutics, Inc., (NASDAQ: PTCT) today announced a corporate update and financial results for the third quarter ended September 30, 2025. "We achieved an outstanding quarter, highlighted by the strong start to the global Sephience launch," said Matthew B. Klein, M.D., Chief Executive Officer. "The broad initial uptake supports the potential of Sephience to become the standard of care for all individuals with PKU, as well as the foundational product for PTC's sustained growth and success." Key Corporate Updates Third quarter 2025 total revenue of $211.0 million Global launch of Sephience™ initiated in US and Europe Third quarter 2025 revenue of $19.6 million, including $14.4 million revenue in the US and $5.2 million revenue ex-US 521 patient start forms received from 141 unique prescribers in the US as of September 30 341 total patients on commercial therapy worldwide as of September 30 Third quarter 2025 revenue for the DMD franchise of $85.9 million, including net product revenue for Translarna™ of $50.7 million and for Emflaza® of $35.2 million R&D Day planned for Tuesday, December 2nd in New York Key Clinical and Regulatory Updates Additional Sephience marketing authorization reviews ongoing including in Japan where decision is expected in Q4 2025 FDA meeting for votoplam Huntington's disease program planned for Q4 FDA meeting planned for vatiquinone Friedreich's ataxia program in Q4 Translarna NDA remains under FDA review Third Quarter 2025 Financial Highlights Total revenue was $211.0 million for the third quarter of 2025, compared to $196.8 million for the third quarter of 2024. Total revenue includes net product revenue across the commercial portfolio of $131.0 million for the third quarter of 2025, compared to $135.4 million for the third quarter of 2024. Total revenue also includes royalty, collaboration and license revenue of $80.1 million for the third quarter of 2025, compared to $61.4 million for the third quarter of 2024. Sephience net product revenue was $19.6 million for the third quarter of 2025. Translarna net product revenue was $50.7 million for the third quarter of 2025, compared to $72.3 million for the third quarter of 2024. Emflaza net product revenue was $35.2 million for the third quarter of 2025, compared to $51.9 million for the third quarter of 2024. Roche reported Evrysdi® 2025 year-to-date sales of approximately CHF 1,293 million, resulting in royalty revenue of $70.8 million to PTC for the third quarter of 2025, as compared to $61.4 million for the third quarter of 2024. Based on US GAAP (Generally Accepted Accounting Principles), GAAP R&D expense was $100.2 million for the third quarter of 2025, compared to $161.4 million for the third quarter of 2024. Non-GAAP R&D expense was $91.0 million for the third quarter of 2025, excluding $9.1 million in non-cash, stock-based compensation expense, compared to $152.0 million for the third quarter of 2024, excluding $9.4 million in non-cash, stock-based compensation expense. GAAP SG&A expense was $84.0 million for the third quarter of 2025, compared to $73.5 million for the third quarter of 2024. Non-GAAP SG&A expense was $73.8 million for the third quarter of 2025, excluding $10.3 million in non-cash, stock-based compensation expense, compared to $63.1 million for the third quarter of 2024, excluding $10.3 million in non-cash, stock-based compensation expense. Net income was $15.9 million for the third quarter of 2025, compared to net loss of $106.7 million for the third quarter of 2024. Cash, cash equivalents, and marketable securities were $1,687.8 million as of September 30, 2025, compared to $1,139.7 million as of December 31, 2024. The third quarter cash balance reflects the PTC agreement to purchase approximately 90% of the Sephience annual percentage-based global net sales obligation owed to former Censa shareholders in exchange for an upfront payment of $225.0 million and future sales-based milestone payments. Shares issued and outstanding as of September 30, 2025, were 79,931,766. PTC Full-Year 2025 Financial Guidance For the full year 2025, PTC anticipates: Total revenue of $750 to $800 million, which includes in-line products and royalty revenue from Evrysdi. GAAP R&D and SG&A expense of $805 to $835 million. Non-GAAP R&D and SG&A expense of $730 to $760 million, excluding estimated non-cash, stock-based compensation expense of $75 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 FDA: U.S. Food and Drug Administration GAAP: Generally Accepted Accounting Principles 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. To avoid delays, we recommend participants dial in for the conference call 15 minutes prior to the start of the call. The webcast conference call can be accessed on the Investors section of the PTC website at . A replay of the call will be available approximately two hours after completion and will be archived on the company's website for 30 days. 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 and Facebook. 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 Full-Year 2025 Financial Guidance", including with respect to (i) 2025 total revenue guidance and (ii) 2025 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 regulatory and 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 Brazil, Russia and other regions; the effect of the European Commission's adoption of the negative opinion from the Committee for Medicinal Products for Human Use (CHMP) on Translarna on other regulatory bodies; PTC's ability to use the results of Study 041, a randomized, 18-month, placebo-controlled clinical trial of Translarna for the treatment of nmDMD followed by an 18-month open-label extension, and from its international drug registry study to support a marketing approval for Translarna for the treatment of nmDMD in the United States; whether investigators agree with PTC's interpretation of the results of clinical trials and the totality of clinical data from its trials in Translarna; 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 most recent Quarterly Report on Form 10-Q and 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, Waylivra or vatiquinone. 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