Sepiapterin

– 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

Ultragenyx Pharmaceutical：GTX-102获突破性疗法认定，用于治疗天使综合征 6月28日，Ultragenyx Pharmaceutical宣布，其在研反义寡核苷酸疗法GTX-102（apazunersen）获得美国FDA授予的突破性疗法认定，用于治疗天使综合征（AS）。 该认定主要基于一项1/2期临床试验的积极结果。该研究共纳入74名年龄在4至17岁之间、携带母源UBE3A基因完全缺失的天使综合征患者，结果显示，患者在接受治疗最长达3年后，在多个症状领域持续表现出快速且稳定的发育改善。 天使综合征（AS），是一种由母源15号染色体上UBE3A基因功能缺失或表达异常引起的罕见神经发育障碍，发病率约为1/12000至1/15000。该病主要表现为严重的发育迟滞、明显的运动或平衡障碍、独特的行为特征以及癫痫发作，患者常伴有小头畸形、特殊脑电图模式，并可能出现枕部扁平、伸舌、流涎、睡眠问题及色素减退等特征。 神济昌华：全球首款针对渐冻症的基因疗法SNUG01获FDA孤儿药资格认定 6月25日，神济昌华自主研发的全球首款靶向TRIM72的基因疗法SNUG01正式获得美国食品药品监督管理局（FDA）授予的孤儿药资格认定（ODD），适应症为肌萎缩侧索硬化（ALS）。 肌萎缩侧索硬化（ALS），俗称“渐冻症”，是一种罕见的好发于中老年的进行性神经系统变性疾病，全球标准化发病率约为每年1.68/10万人。在临床表现上，ALS在个体特征上存在较大的差异，主要体现在全身或者局部肌肉萎缩、活动障碍、构音障碍、饮食呛咳、肌束颤动、易疲劳、呼吸困难、流涎、尿便障碍、肢体无力等。 SNUG01以重组腺相关病毒9型（rAAV9）为载体，通过鞘内注射（IT）精准递送人源TRIM72基因至神经元。已完成的SNUG01研究者发起的临床试验初步验证了SNUG01的安全和耐受性良好，且在疗效指标及生物标志物改善方面呈现出积极信号。与仅针对特定基因突变型ALS的疗法不同，SNUG01凭借其多维度神经保护机制，有望覆盖更广泛的ALS患者群体，特别是为占患者总数90%、目前尚无有效治疗手段的散发型ALS患者提供潜在解决方案。 Amicus Therapeutics生物技术：日本批准晚发型庞贝病新疗法 6月25日，Amicus Therapeutics生物技术公司宣布，日本厚生劳动省(MHLW)已批准Pombiliti(cipaglucosidase alfa)和Opfolda(miglustat)联用，用于治疗晚发型庞贝病(LOPD)成年患者。此前，该组合疗法已在美国、欧盟、英国、加拿大、澳大利亚、瑞士获得批准。 庞贝病是一种罕见的常染色体隐性遗传的代谢性疾病，由于患者体内缺乏酸性α-葡萄糖苷酶这种关键酶，导致糖原无法被正常分解而大量累积在肌肉细胞（特别是心肌、骨骼肌和呼吸肌）的溶酶体中，从而引起细胞损伤和功能障碍；其严重程度差异很大，最严重的婴儿型在出生后不久即出现严重肌无力、心脏扩大和心力衰竭，常危及生命，而晚发型则在儿童期、青少年或成年后逐渐出现进行性肌肉无力（尤其是躯干和下肢）、呼吸困难和呼吸衰竭。 Pombiliti是一种重组人GAA酶，通过输注提供GAA的外源来源，可以分解肌肉细胞中的糖原；而口服药物Opfolda是一种酶稳定剂，与血液中的Pombiliti结合，稳定并减少其失活。 新芽基因：创新碱基编辑疗法GEN6050X获FDA儿科罕见疾病资格认定（RPDD） 6月25日，新芽基因宣布，FDA已授予其体内碱基编辑创新疗法GEN6050X儿科罕见疾病资格认定（RPDD），用于治疗杜氏肌营养不良（DMD）。 杜氏肌营养不良（DMD）是一种X连锁隐性遗传的神经肌肉罕见病，主要由X染色体短臂上的DMD基因突变导致抗肌萎缩蛋白完全缺失或功能异常引起。患者绝大多数为男性，通常在3-5岁起病，表现为运动发育迟滞、步态异常、频繁跌倒、腓肠肌假性肥大，以及典型的Gowers征。 GEN6050X采用全球独家权利的TAM胞嘧啶碱基编辑器，并通过AAV系统递送，精准靶向外显子50跳跃可以治愈的DMD人群。2025年3月6日 获得FDA的临床试验新药申请（IND）批准，2025年6月10日获得FDA孤儿药资格（ODD）认定。 PTC Therapeutics：苯丙酮尿症新疗法Sephience在欧盟委员会获得上市许可 6月23日，PTC Therapeutics, Inc. 宣布，其药物 Sephience (sepiapterin) 已获得欧盟委员会（EC）的上市许可，用于治疗患有苯丙酮尿症(PKU)的儿童和成人，许可的PKU适应症涵盖所有年龄段和各种疾病严重程度。 苯丙酮尿症（PKU）是一种常染色体隐性遗传的氨基酸代谢障碍疾病，由苯丙氨酸羟化酶基因（PAH）突变导致肝脏中苯丙氨酸羟化酶活性缺乏或显著降低，致使苯丙氨酸无法正常转化为酪氨酸，从而在血液和脑脊液中异常蓄积，过量的苯丙氨酸及其代谢产物（如苯丙酮酸）会不可逆地损伤发育中的大脑神经元。 Sephience是一种合成墨蝶呤的口服制剂，也是口服的细胞内四氢生物蝶呤(BH4)前体药物，而BH4是苯丙氨酸羟化酶(PAH)的关键辅因子。Sephience作为双重药理伴侣（墨蝶呤和BH4，两者各自对变异型PAH均有各自的结合亲和力），包括常见于苯丙酮尿症(PKU)中且已知对BH4不敏感的PAH变异型，从而增强缺陷型PAH酶的活性，从而达到细胞内BH4的高浓度。旨在通过增强错误折叠PAH酶的构象稳定性并提高BH4的细胞内浓度，Sephience能够有效降低血液中的苯丙氨酸(Phe)水平。 BioArctic：多系统萎缩抗体药物获FDA孤儿药资格认定 瑞典生物制药公司BioArctic 宣布，美国食品药品监督管理局（FDA）孤儿药开发办公室（OOPD）已授予exidavnemab孤儿药资格认定（ODD），用于治疗多系统萎缩（MSA）。 多系统萎缩（MSA）是一种罕见的、进行性的、且致命的神经系统变性病，在临床上可分为帕金森型（MSA-P）和小脑型 (MSA-C)，其主要特征是进行性自主神经功能衰竭、帕金森综合征和小脑性共济失调。 exidavenemab是一种靶向α-突触核蛋白的单克隆抗体，旨在减缓MSA疾病进展。α-突触核蛋白在MSA患者脑内异常聚集，形成有害的蛋白质沉积，破坏神经细胞功能。exidavenemab通过精准结合这些异常蛋白，阻止其进一步聚集，并促进其清除，从而有望延缓疾病恶化，为患者争取更长的生活质量。 早期研究表明，exidavenemab在动物模型中显示出良好的安全性和初步疗效，成功减少了α-突触核蛋白的病理积累。 NS Pharma：嗜酸性肉芽肿性多血管炎药物NS-229获FDA孤儿药资格认定 NS Pharma前不久宣布，美国食品药品监督管理局（FDA）已授予NS-229孤儿药资格认定，该药物正在开发中，用于治疗罕见病嗜酸性肉芽肿性多血管炎（EGPA）。 嗜酸性肉芽肿性多血管炎（EGPA）是一种罕见的自身免疫性系统性坏死性血管炎，以哮喘、嗜酸性粒细胞显著增多（外周血和组织内浸润）及中小血管炎为三大核心特征；其病理本质是嗜酸性粒细胞异常活化并释放毒性颗粒蛋白，导致多器官（如肺、皮肤、周围神经、心脏、胃肠道及肾脏）的肉芽肿性炎症和血管损伤，临床常表现为哮喘急性加重、过敏性鼻炎、游走性肺浸润影、多发性单神经炎、皮肤紫癜或结节、腹痛腹泻以及心脏受累。 NS-229作为选择性Janus激酶1（JAK1）抑制剂，以帮助调节免疫细胞功能并防止免疫系统造成组织损伤。 赛诺菲&再生元：度普利尤单抗获FDA批准治疗大疱性类天疱疮 6月20日，赛诺菲和再生元共同宣布FDA已批准度普利尤单抗（Dupixent）用于治疗成人大疱性类天疱疮 (BP) 的补充生物制品许可申请（sBLA）。这是全球第一个治疗BP的靶向药物。 大疱性类天疱疮（BP）是一种中老年高发的自身免疫性表皮下大疱病，由患者体内产生针对皮肤基底膜带成分（主要是BP180和BP230抗原）的致病性IgG自身抗体，引发补体活化、炎症细胞浸润及蛋白酶释放，最终导致表皮与真皮分离形成紧张性大疱。 度普利尤单抗是一种全人源单克隆抗体，可抑制白细胞介素 - 4（IL - 4）和白细胞介素 - 13（IL - 13）信号通路，这两种细胞因子是 2 型炎症的关键驱动因素。  在今年3月，国家药品监督管理局药品审评中心（CDE）正式授予度普利尤单抗注射液新适应症优先审评资格，用于治疗BP。获批后有望成为中国首款也是唯一一款用于治疗BP的靶向药物。 舒泰神：血友病新药STSP-0601有望为耐药患者带来新希望 近日，舒泰神公司发布公告称，其自主研发的国家1类治疗用生物制品“注射用STSP-0601”的附条件上市申请正式获得国家药品监督管理局受理并纳入优先审评程序，适应症为伴抑制物的血友病A或B成人患者出血按需治疗。 血友病是一种X染色体连锁的隐性遗传性出血性疾病，可分为血友病A和血友病B两种。前者为凝血因子Ⅲ（F Ⅷ）缺乏，后者为凝血因子IX（F IX）缺乏，分别由相应的凝血因子基因突变所致。 今年1月，舒泰神宣布STSP-0601治疗伴抑制物的血友病A或B患者的IIb期研究达到预设的主要有效性终点。结果显示，STSP-0601用于伴抑制物的血友病A或B患者出血按需治疗的疗效显著，12h有效止血率为81.94%，优于单组目标值（OPC），差异具有统计学意义（P＜0.0001）。 CSL：每月 1 次，全球首款 FXIIa 单抗获批上市 6月16日，CSL 宣布，美国 FDA 已批准其自主开发的 Garadacimab 上市，用于预防 12 岁及以上成人和儿童患者遗传性血管性水肿 (HAE) 的发作。 遗传性血管性水肿（HAE）是一种常染色体显性遗传的罕见病，由SERPING1基因突变导致C1酯酶抑制剂缺乏或功能障碍，或罕见因素引起缓激肽代谢失衡，致使缓激肽异常蓄积，进而诱发皮肤、黏膜及内脏器官自限性但反复发作的严重血管性水肿。 Garadacimab 是一种皮下注射 FXIIa 单抗，每月一次，可将 HAE 患者的发作次数中位数减少超过 99%，这是全球首款获批的 FXIIa 单抗。 Garadacimab 是一种新型的靶向活化型因子 XII（FXIIa）的单克隆抗体，可通过每月一次皮下注射给药预防性治疗 HAE。研究表明，FXIIa 可启动导致 HAE 发作的级联反应。而 Garadacimab 靶向 FXIIa，可从源头抑制该级联反应，从而治疗HAE。 来源：罕见病视界 声明：*本文仅提供信息参考，不代表本平台观点。 推荐阅读： 科普大赛获奖动画展示，一站式搞定科普动画长图制作！