Phenylketonuria (PKU) is an inherited disorder of phenylalanine (Phe) metabolism. The mainstay of treatment is a Phe-restricted diet, which aims to maintain blood Phe concentrations within the recommended range and prevent neurological complications. Some individuals with PKU respond to pharmacological treatments, including sapropterin, a synthetic form of tetrahydrobiopterin (BH4), or sepiapterin. These treatments may increase Phe tolerance and allow a less restrictive diet.
Diet is an important determinant of gut microbiota composition and function. However, the effects of the Phe-restricted diet and pharmacologically enabled dietary relaxation on the gut microbiota in PKU remain poorly understood.
This observational study includes children and adolescents with PKU aged 3-17 years attending Birmingham Children's Hospital. Participants include those managed exclusively with a Phe-restricted diet, those receiving sapropterin, and those receiving sepiapterin. One healthy household control is recruited for each participant with PKU.
Faecal samples are collected for shotgun metagenomic sequencing and metabolite profiling. Dietary intake, gastrointestinal symptoms, stool characteristics, clinical information, and PKU treatment are also assessed.
The study investigates whether gut microbiota composition, microbial functional potential, and faecal metabolite profiles differ between participants managed with a Phe-restricted diet, those receiving pharmacological treatment, and healthy household controls. The findings may improve understanding of the relationships between PKU treatment, dietary restriction, gastrointestinal health, and the gut microbiome and may inform future nutritional strategies for individuals with PKU.

开始日期2025-10-01

申办/合作机构

Birmingham Women's & Children's NHS Foundation Trust

[+1]

CTIS2023-506238-61-00

/ Completed临床3期

A Phase 3, Randomized, Crossover, Open-Label, Active-Controlled Study of Sepiapterin versus Sapropterin in Participants With Phenylketonuria ≥2 years of Age

开始日期2024-05-10

申办/合作机构

PTC Therapeutics, Inc.

100 项与塞匹蝶呤相关的临床结果

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100 项与塞匹蝶呤相关的转化医学

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100 项与塞匹蝶呤相关的专利（医药）

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481

项与塞匹蝶呤相关的文献（医药）

2026-08-01·MOLECULAR GENETICS AND METABOLISM

Real-world experience with sepiapterin in phenylketonuria: A single-center retrospective analysis

Article

作者: Smith, Madison ; Prada, Carlos E ; Vucko, Erika R ; McGrath, Gabrielle ; Arduini, Katie ; Becker, Karen ; Kozek, Anne ; Burton, Barbara K ; Schirmacher, Sarah ; Meza, Aurora ; Shim, Soo ; Kurkjian, Brooke

BACKGROUND:

Phenylketonuria (PKU) is an inborn error of metabolism caused by phenylalanine hydroxylase (PAH) deficiency. Sepiapterin, the most recently FDA-approved therapeutic for PKU, is indicated for sepiapterin-responsive PKU in individuals >1 month of age. Real-world experience is needed to characterize clinical impact across patient subsets.

METHODS:

A retrospective chart review was conducted for PKU patients at Lurie Children's Hospital prescribed sepiapterin from August 2025 through January 2026. Baseline characteristics, genotypic phenotype values (GPV), historical sapropterin responsiveness, and treatment outcomes were analyzed.

RESULTS:

Of 63 patients prescribed sepiapterin, 53 initiated treatment. The cohort included 34 sapropterin-responsive, 12 non-sapropterin-responsive, and 7 treatment-naïve patients. Of 50 patients who submitted blood samples, 76% (n = 38) responded to sepiapterin. Mean Phe reductions were 46% (GPV ≤2.7), 53% (GPV 2.8-6.6), and 41% (GPV >6.6). Notably, a mean 46% reduction occurred in sapropterin-responsive patients already receiving sapropterin. Within the non-sapropterin responsive cohort 27% (3/11) had a mean blood Phe reduction ≥15% (16%-76%; mean 56%). Dietary liberalization occurred in 64% of patients, with 88% increasing natural protein intake and 5 patients discontinuing medical nutrition therapy. The discontinuation rate was 10% due to inadequate response. Side effects were predominantly gastrointestinal (loose stools 8%, abdominal pain 9%).

CONCLUSIONS:

Real-world experience with sepiapterin demonstrates a 76% response rate in the group of PKU patients tested which included a disproportionate number of sapropterin-responsive subjects. Clinical benefit was observed in individuals across the PKU severity spectrum, including a proportion of patients with classical PKU and those historically non-responsive to cofactor therapy. The favorable safety profile and potential for dietary liberalization support sepiapterin as a valuable treatment option for individuals with PKU.

2026-07-01·MOLECULAR GENETICS AND METABOLISM

Sepiapterin: From sapropterin to next-generation therapy

Review

作者: Blau, Nenad

Sepiapterin is a naturally occurring pteridine and BH4 precursor that links classic pterin chemistry to tetrahydrobiopterin biology. Tetrahydrobiopterin (BH4; sapropterin) is an essential redox-active cofactor for phenylalanine hydroxylase (PAH), the aromatic amino acid hydroxylases, and nitric oxide synthases, whereas 7,8-dihydrobiopterin (BH2) reflects pterin redox balance and can antagonize BH4-dependent nitric oxide signaling. This review integrates historical and chemical perspectives with current biochemical and clinical understanding of BH4 homeostasis, including de novo synthesis, recycling/oxidation, and the sepiapterin salvage pathway. Sepiapterin is taken up by cells through equilibrative nucleoside transport mechanisms and is intracellularly converted through sepiapterin reductase and dihydrofolate reductase to expand BH4 pools. In healthy volunteers, oral sepiapterin produced marked systemic BH4 exposure with minimal parent-drug exposure (geometric mean Cmax 640 ng/mL for BH4 versus 1.74 ng/mL for sepiapterin after 60 mg/kg) and increased cerebrospinal fluid BH4 after 7 days of 60 mg/kg/day dosing. In phenylketonuria (PKU), the Phase 3 APHENITY trial showed a placebo-adjusted least-squares mean blood phenylalanine reduction of 395.9 μmol/L at Week 6 among sepiapterin-responsive participants, and the Phase 3 AMPLIPHY trial showed greater lowering with sepiapterin 60 mg/kg/day than with sapropterin 20 mg/kg/day (least-squares mean difference 180.4 μmol/L; 95% CI 131.4-229.5; p < 0.0001). Together, these data position sepiapterin as a next-step therapy beyond sapropterin, while underscoring the importance of biomarker studies that quantify BH4, BH2, and the BH4/BH2 ratio in plasma and cerebrospinal fluid.

2026-07-01·BIOCHEMICAL PHARMACOLOGY

Targeted endothelial GTPCH1/BH4 pathway activation reverses vascular dysfunction in smoking-associated obesity

Article

作者: Zhang, Wei ; Bu, Wen-Jie ; Bai, Yun-Long ; Zheng, Dong-Jie ; Dong, Chao-Run ; Lian, Guang ; Yu, Yi ; Lu, Dong ; Fan, Zhe-Yu ; Li, Si-Si

Obesity and cigarette smoking are two major cardiovascular risk factors that frequently coexist, yet their combined impact on vascular function and the underlying mechanisms remains insufficiently defined. Here, we show that short-term cigarette smoke (CS) exposure induces persistent endothelial dysfunction exclusively in obese mice, while having minimal vascular effects in lean mice. Obese mice exposed to CS exhibited severely impaired acetylcholine-induced vasodilation, elevated blood pressure, sustained vascular oxidative stress, and accelerated endothelial senescence. Integrated metabolomic and transcriptomic analyses revealed that CS superimposed on obesity drives a distinct metabolic and transcriptional reprogramming characterized by disrupted redox homeostasis and inflammatory signaling. Mechanistically, CS selectively suppressed endothelial GTP cyclohydrolase 1 (GTPCH1) expression in obese mice, resulting in tetrahydrobiopterin (BH4) depletion, endothelial nitric oxide synthase (eNOS) uncoupling, reduced nitric oxide bioavailability, and increased superoxide production. Endothelial-specific restoration of GTPCH1 expression or pharmacological treatment with sepiapterin restored eNOS coupling, normalized endothelial redox balance, and rescued vascular function. In summary, we demonstrate that CS leads to sustained endothelial dysfunction in the setting of obesity, a phenomenon that is associated with disruption of the GTPCH1/BH4/eNOS axis. This provides a mechanistic explanation for the heightened cardiovascular risk in obese smokers and identifies actionable molecular targets for intervention.

151

项与塞匹蝶呤相关的新闻（医药）

2026-08-24

·PRNewswire

PTC Therapeutics Announces New Sephience™ (sepiapterin) Data Reinforcing Broad Patient Benefits Including Sustained Metabolic Control and Diet Liberalization as well as Consistent Favorable Safety Profile

– 17 abstracts and presentations planned at SSIEM Symposium – – Real-world evidence demonstrates significant diet liberalization achieved with Sephience while maintaining target blood Phe levels – – Continued evidence of meaningful benefit across all patient subgroups – WARREN, N.J., Aug. 24, 2026 /PRNewswire/ -- PTC Therapeutics, Inc. (NASDAQ: PTCT) today announced that multiple Sephience™ (sepiapterin) scientific data presentations will be featured at the 2026 Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, taking place in Helsinki, Finland, from Aug. 25-28. The presentations include new data from clinical trials and real-world evidence which reinforce the clinically meaningful benefits of Sephience on lowering phenylalanine (Phe), significant diet liberalization and sustained metabolic control for the full spectrum of individuals living with phenylketonuria (PKU) including those with classical PKU. In addition, Sephience studies continue to show a consistent and favorable safety profile. "The SSIEM presentations further demonstrate the broad clinical benefits of Sephience across the full spectrum of individuals living with PKU," said Matthew B. Klein, M.D., Chief Executive Officer. "In addition, new data to be presented at the PTC symposium show treatment with Sephience led to a large number of responsive participants achieving normalization of blood Phe levels (<120 µmol/L) in a rapid timeframe, including those with classical or non-BH4-responsive PKU. These impressive data support the potential benefits Sephience can deliver for individuals affected by PKU." Highlights of the data to be presented at SSIEM 2026 include: New analyses from the AMPLIPHY study demonstrate that Sephience treatment resulted in a 100% greater reduction in blood Phe for participants on sapropterin at screening after switching to Sephience. In an analysis of participants in Sephience studies with high baseline Phe levels (≥900 µmol/L), Sephience treatment resulted in clinically meaningful reductions in blood Phe levels within 14 days, with response rates comparable to the overall study population, and a safety profile consistent with prior studies. These findings support a trial of Sephience treatment in individuals with PKU regardless of severity or baseline Phe. An analysis of real-world data performed by a leading global key opinion leader shows that Sephience enabled significant dietary liberalization in adolescents, supporting greater independence, reduced dietary burden, and maintained metabolic control within recommended targets. These results were observed in individuals with both BH4-responsive and classical/non-BH4 responsive PKU mutations. About Sephience™ (sepiapterin) Sephience™ is indicated for the treatment of adult and pediatric patients with phenylketonuria (PKU). Sephience is a natural precursor of the enzymatic co-factor BH4, a critical co-factor for phenylalanine hydroxylase (PAH). Through its unique dual mechanism of action, Sephience is able to effectively reduce blood phenylalanine (Phe) levels and has the potential to treat a broad range of PKU patients. Sephience is approved in the United States, the European Union/European Economic Area region, Japan and other countries. Indication and Important Safety Information Indication SEPHIENCE is indicated for the treatment of hyperphenylalaninemia (HPA) in adult and pediatric patients 1 month of age and older with sepiapterin-responsive phenylketonuria (PKU). SEPHIENCE is to be used in conjunction with a phenylalanine (Phe)-restricted diet. Contraindications None. Important Safety Information Treatment with SEPHIENCE should be directed by physicians knowledgeable in the management of PKU. Biochemical response to SEPHIENCE can only be determined by a therapeutic trial with careful monitoring of ongoing dietary and nutritional balance to ensure adequate Phe control. Warnings and Precautions Increased Bleeding: SEPHIENCE may increase the risk of bleeding. Bleeding events, including superficial hematomas, prolonged bleeding, and heavy menstrual bleeding have occurred in patients treated with SEPHIENCE. Inform patients about the risk of bleeding associated with SEPHIENCE and have patients follow up with their healthcare provider should such a bleeding event occur. Consider treatment interruption with SEPHIENCE in patients with active bleeding. Hypophenylalaninemia: Some pediatric patients receiving SEPHIENCE experienced hypophenylalaninemia. Monitor blood Phe levels during treatment and modify the dosage of SEPHIENCE and/or dietary protein and Phe intake as needed to ensure adequate blood Phe level control. Frequent blood monitoring is recommended in the pediatric population. Interaction with Levodopa: In a 10-year post-marketing safety surveillance program for a non-PKU indication using another drug that is a phenylalanine hydroxylase (PAH) activator, three patients with underlying neurological disorders experienced seizures, exacerbation of seizures, over-stimulation, and irritability during co-administration with levodopa. Monitor patients who are receiving levodopa for changes in neurological status during treatment with SEPHIENCE. Adverse Reactions Most common adverse reactions with SEPHIENCE (≥2% and > placebo) were diarrhea, headache, abdominal pain, hypophenylalaninemia, feces discoloration and oropharyngeal pain. Drug Interactions Avoid concomitant use of drugs known to inhibit folate synthesis dihydrofolate reductase (DHFR) (e.g., trimethoprim, methotrexate, trimetrexate, pemetrexed, pralatrexate, raltitrexed, and piritrexim) while taking SEPHIENCE. Concomitant administration of such drugs may reduce sepiapterin metabolism to BH4. If concomitant use is not avoidable, monitor blood Phe levels. SEPHIENCE and PDE-5 inhibitors (e.g., sildenafil, vardenafil, or tadalafil) induce vasorelaxation and may reduce blood pressure. Monitor for signs and symptoms of hypotension. For medical information, product complaints, or to report an adverse event, please call 1-866-562-4620 or email [email protected]. You may also report adverse events directly to FDA at 1-800-FDA-1088 or . Please see Full Prescribing Information. About Phenylketonuria Phenylketonuria (PKU) is a rare, inherited metabolic disease, characterized by the body's inability to break down an essential amino acid called phenylalanine (Phe) and which can result in neurological and other symptoms. If left untreated or poorly managed, Phe can build up to harmful levels in the body. This causes severe and irreversible disabilities, such as permanent intellectual disability, seizures, delayed development, memory loss, and behavioral and emotional problems. Newborns with PKU initially do not have any symptoms, but symptoms are usually progressive, and damage caused by toxic levels of Phe in the first few years of life is irreversible. Diagnosis of PKU usually takes place during newborn screening programs. There are an estimated 58,000 people living with PKU globally. 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 us 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 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, commercialization and other matters with respect to its products and product candidates; expectations with respect to Sephience; 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," 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 commercialization and the potential achievement of sales milestones and contingent payments that PTC may be obligated to make; 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; and the factors discussed in the "Risk Factors" section of PTC's most recent 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. 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

上市批准临床结果

2026-08-14

·药时代

基因先驱破产，巨头接盘！

正文共：2241字预计阅读时间：5分钟美国特拉华州地方法院破产法庭内，有人欢喜有人愁。来自PTC Therapeutics的交易团队在截止前提交了最终报价，胜券在握。数十米开外，安斯泰来的代表们面色凝重。作为“假马竞标人”参与这场竞购时，他们设定的初始交易框架为2500万美元首付款，叠加最高2500万美元的里程碑款，总价值达5000万美元。而此刻，PTC已将这一价格推至四倍以上。更远处的礼来团队则显得从容，他们的目标是另一组更为底层的平台技术，且无人与之竞购。电子屏幕上的竞价数字最终停止跳动。随着法官的最终裁定落定，PTC以1.11亿美元现金预付款加最高1亿美元里程碑款，拿下Sangamo旗下最具价值的晚期基因疗法资产ST-920。而礼来则以5000万美元的价格，将Sangamo三十年积累的锌指蛋白平台、衣壳递送系统、MINT整合酶技术及朊病毒病项目尽数收入囊中。一场为期两天的破产拍卖，就这样成为了Sangamo三十年故事的终章。（以上场景为小编杜撰，如有雷同，实属巧合）基因疗法先驱陨落记 Sangamo的故事，几乎是基因治疗行业从狂热到理性的一则缩影。 1995年成立之初，这家公司是全球锌指核酸酶技术的开创者，完成了人类首次体内基因编辑临床试验，一度垄断初代基因编辑核心专利。在那个CRISPR尚未登场的年代，锌指技术是基因编辑领域最耀眼的名片，Sangamo也因此成为CGT赛道最早的明星biotech，与辉瑞、诺华、赛诺菲、渤健等全球顶级药企达成重磅合作，巅峰估值约12亿美元。然而，技术领先不等于商业成功。三十年间，Sangamo始终未能将任何一款产品推向市场。其商业模式高度依赖与大型药企的合作，通过技术授权获取首付款和里程碑收入。这一模式在合作伙伴关系稳固时尚可维系，但一旦断裂，后果便是灾难性的。 2023年6月，诺华和渤健先后终止了与Sangamo的合作协议，公司收入从2023年的1.762亿美元骤降至2024年的5780万美元。同年12月，辉瑞终止了血友病A基因治疗合作，这项合作本可为Sangamo带来高达2.2亿美元的里程碑付款。消息公布后，公司股价暴跌50%，彻底被股权市场拒之门外。到了2026年，公司的处境进一步恶化。5月，Sangamo宣布再裁员超160人，占员工总数的40%，试图将运营成本减半。公司试图转型为神经领域基因组医学公司，并计划将法布里病和CAR-Treg项目对外授权。但这一切努力已为时过晚。6月，Sangamo正式向美国特拉华州破产法院提交第11章破产保护申请。彼时公司账面现金仅剩550万美元，而负债高达1.15亿美元。一家曾站在基因编辑技术之巅的biotech，最终倒在了商业化的最后一公里。 ST-920被PTC溢价拿下公司破产清算，并不意味着其管线与平台的价值就此化为乌有。在Sangamo的这场破产资产拍卖中，安斯泰来志在核心管线ST-920，并以假马竞标人的身份入局。这是破产拍卖中一种常见的制度安排：破产企业为防止核心资产被趁火打劫或恶意压价，会预先与一家信誉良好的买家签订初步收购协议，约定一个最低收购价。这既为资产兜底，也为其他潜在买家划定了竞争基准。最后，PTC以总交易价值超过2亿美元胜出，溢价幅度达安斯泰来初始报价的四倍有余。至于安斯泰来为何在最后关头选择退出，双方均未公开披露具体原因。那么，PTC为何愿意付出如此高昂的溢价？首先，ST-920本身是一款经得起审视的优质资产。它瞄准的法布里病是一种严重的X连锁遗传性溶酶体蓄积病，患者长期饱受疼痛、肾衰竭及心肌肥厚的折磨。现有的酶替代疗法需终身静脉输注，负担极重。 ST-920作为一种一次性给药的AAV基因疗法，通过单剂量静脉输注即可让肝脏持续产生功能性酶，且无需预处理。其1/2期STAAR研究数据堪称惊艳：不仅展现出持久的α-Gal A活性（长达4.5年），更在52周时显示出肾功能的积极改善趋势。更重要的是，它已进入BLA滚动提交阶段，获得了FDA的RMAT、孤儿药及快速通道三重认定，距离监管终点仅一步之遥。对于任何买家而言，这意味着最昂贵、风险最高的临床开发阶段已经完成，剩下的路是一条确定性极高的商业化坦途。其二，ST-920与PTC现有业务具备极强的协同效应。 PTC长期深耕罕见病领域，其苯酮尿症新药Sephience已在全球50多个国家获批上市，构建起一张成熟且高效的罕见病商业化网络。 PTC首席执行官Matthew Klein博士在投资者电话会议上直言："我们有现成的产能与专业知识，完全有能力将这款产品直接融入现有基础设施。它可以直接嵌入我们已有的体系中，无需进行大规模的新建投入。" 从时间窗口看，PTC预计在2026年第四季度完成CMC资料的递交，结束滚动BLA申报，目标2027年实现商业化上市。对于一个已建立全球罕见病商业化平台的企业而言，接手一款已进入BLA阶段的晚期资产，边际成本远低于从零搭建。用金钱换时间，用现有基础设施承接现成管线，这是罕见病领域后来者弯道超车的典型路径。礼来的战略：押注技术平台与PTC收购具体管线不同，礼来则展现了另一种维度的战略眼光。礼来以5000万美元的现金对价，将Sangamo的衣壳递送平台、锌指蛋白平台、MINT（模块化整合酶）技术以及朊病毒病项目ST-506尽数收入囊中。尽管锌指蛋白技术在基因编辑领域的声量已被CRISPR后来居上，但其在表观遗传调控等特定应用场景中仍具有不可替代的价值。更为关键的是，Sangamo自主研发的衣壳递送平台能够有效突破血脑屏障，这是解决中枢神经系统（CNS）基因疗法“最后一公里”递送难题的关键钥匙。这一布局与礼来近年来在CNS疾病领域的战略高度契合。事实上，礼来对Sangamo底层技术的收编早有铺垫。2025年4月，礼来曾支付1800万美元预付款，获得Sangamo衣壳递送平台在特定中枢神经系统疾病靶点上的全球独家许可。从初步许可到全盘收购，礼来仅用一年多时间，便完成了对这一核心底层技术平台的深度绑定。 Sangamo破产了，但价值没有消失在这场核心资产的激烈角逐之外，Sangamo的其余实验设备和工具则由其他竞标方以255万美元的价格打包收购。目前，Sangamo仍有不少管线等待新主人，包括ST-503、giroctocogene fitelparvovec，以及其他细胞治疗和Treg资产。根据Sangamo披露，公司将继续征集并评估这些关键资产的报价。 Sangamo破产了，但它创造的价值并没有随之消失。一家公司的终点，有时是另一家公司的起点。基因编辑鼻祖的故事落幕了，但法布里病基因疗法的故事，以及那些被收编的技术平台将走向何方，才刚刚翻开新的一页。参考资料： 1.https://www.fiercebiotech.com/biotech/ptcs-211m-bid-wins-sangamo-auction-teeing-special-opportunity-enter-fabry-market 2.U.S. Bankruptcy Court, District of Delaware. In re: Sangamo Therapeutics, Inc 3.https://www.biospace.com/deals/bankrupt-sangamo-offloads-assets-to-lilly-ptc-in-161m-sale 4.Sangamo官网 5.其他公开资料封面图来源：即梦AI 9年首付款暴涨8倍！阿斯利康“弃子”能逆风翻盘吗？ 2026-08-13 告别「传奇」，黄颖的下一程 2026-08-12 13.2亿美元！为了全美仅2500名患者，Jazz为何敢下此血本？ 2026-08-11 剂量翻倍也没用，社恐药「复活」失败！ 2026-08-10 百亿蓝海市场，杀入「粪便疗法」？ 2026-08-08 版权声明/免责声明本文为原创文章。本文仅作信息交流之目的，不提供任何商用、医用、投资用建议。文中图片、视频、字体、音乐等素材或为药时代购买的授权正版作品，或来自微信公共图片库，或取自公司官网/网络，部分素材根据CC0协议使用，版权归拥有者，药时代尽力注明来源。如有任何问题，请与我们联系。衷心感谢! 药时代官方网站:www.drugtimes.cn 联系方式: 电话:13651980212 微信:27674131 邮箱:contact@drugtimes.cn 点击查看更多精彩内容！

2026-08-03

·PRNewswire

PTC Therapeutics Provides Corporate Update and Reports Second Quarter 2026 Financial Results

– Robust Q2 performance with total revenue of $361 million, including $239 million of product revenue – – Full-year 2026 expected total revenue increased to $1.18 to $1.28 billion, with full-year product revenue guidance raised to $850 to $950 million – – Sephience™ (sepiapterin) Q2 2026 revenue of $151 million, with continued broad uptake and geographical expansion – – Strong cash position of $2.2 billion as of June 30, 2026 – WARREN, N.J., July 30, 2026 /PRNewswire/ -- PTC Therapeutics, Inc., (NASDAQ: PTCT) today announced a corporate update and financial results for the second quarter ended June 30, 2026. "Our teams delivered another strong quarter enabling us to again raise 2026 product revenue guidance," said Matthew B. Klein, M.D., Chief Executive Officer. "We also made a number of advances in our R&D pipeline, including identification of our next small molecule splicing development candidate, PTC303, targeting somatic expansion disorders including Huntington's disease and myotonic dystrophy. In addition, we initiated the Phase 1 study of PTC612, our differentiated NLRP3 small molecule." Key Corporate Updates Q2 2026 total revenue of $361 million, including $239 million of product revenue Sephience global launch continues with strong momentum Q2 2026 revenue of $151 million, with the majority from the US and increasing contributions internationally 1,647 patients on commercial therapy worldwide as of June 30, 2026 Positive results from votoplam PIVOT-HD long-term extension study reported and enrollment in global Phase 3 INVEST-HD study ongoing PIVOT-HD 24-month results demonstrated dose-dependent disease slowing on cUHDRS scale in Stage 2 participants, reaching 52% at 10 mg dose level Plan to engage with FDA in 2H 2026 to discuss PIVOT-HD 24-month results being finalized INVEST-HD study being conducted and funded by partner Novartis with target enrollment of approximately 770 individuals with early symptomatic disease INVEST-HD initiation triggered a $50 million milestone payment from Novartis to PTC in Q2 2026 Vatiquinone PROVE-FA study to support NDA resubmission for treatment of Friedreich's ataxia expected to initiate in Q3 2026 Global study will enroll approximately 120 individuals with Friedreich's ataxia age 7 to 21 Study includes open-label treatment arm with matched natural history control group PTC pipeline continues to advance PTC303 named as MSH3 splicing program development candidate targeting Huntington's disease and myotonic dystrophy with plan to enter clinic in 2027 Phase 1 study of PTC612, an oral NLRP3 inhibitor, initiated in Q2 2026 Phase 2a study of PTC844, a next-generation DHODH inhibitor, expected to initiate in Q3 2026 Hege Sollie-Zetlmayer has been appointed to PTC's Board of Directors. Ms. Sollie-Zetlmayer has over 30 years of experience in the biopharmaceutical and medical device industry as a global business operations and human resources leader. She most recently served as PTC's Chief Human Resources Officer prior to her retirement in June 2026. Second Quarter 2026 Financial Highlights Total net product revenue and royalty revenue was $309.9 million for the second quarter of 2026, compared to $175.9 million for the second quarter of 2025. Total net product revenue across the commercial portfolio was $238.8 million for the second quarter of 2026, compared to $118.3 million for the second quarter of 2025, representing over 100% increase. Sephience net product revenues were $151.3 million for the second quarter of 2026, representing 21% growth compared to the first quarter of 2026. Translarna™ (ataluren) net product revenues were $42.2 million for the second quarter of 2026, compared to $59.5 million for the second quarter of 2025. Emflaza® (deflazacort) net product revenues were $24.6 million for the second quarter of 2026, compared to $36.4 million for the second quarter of 2025, due to continued generic erosion. Roche reported Evrysdi® (risdiplam) year-to-date sales of approximately 968 CHF million, resulting in royalty revenue of $71.1 million to PTC for the second quarter of 2026, compared to $57.6 million to PTC for the second quarter of 2025. In the second quarter of 2026, PTC recorded a development milestone of $50.0 million from Novartis for the first patient dosed in the ongoing INVEST-HD Phase 3 study. This sales milestone was recorded as collaboration revenue. Based on US GAAP (Generally Accepted Accounting Principles), GAAP R&D expenses were $99.2 million for the second quarter of 2026, compared to $113.0 million for the second quarter of 2025. Non-GAAP R&D expenses were $88.6 million for the second quarter of 2026, excluding $10.5 million in non-cash, stock-based compensation expense, compared to $104.0 million for the second quarter of 2025, excluding $9.0 million in non-cash, stock-based compensation expense. GAAP SG&A expenses were $80.6 million for the second quarter of 2026, compared to $85.3 million for the second quarter of 2025. Non-GAAP SG&A expenses were $67.9 million for the second quarter of 2026, excluding $12.7 million in non-cash, stock-based compensation expense, compared to $75.7 million for the second quarter of 2025, excluding $9.5 million in non-cash, stock-based compensation expense. Net income was $83.5 million for the second quarter of 2026, compared to net loss of $64.8 million for the second quarter of 2025. In June 2026, PTC issued $550.0 million of senior convertible notes due in 2031 at 0% coupon and a conversion price representing a 40% premium over the stock's closing price at the time of the deal. Concurrent with the transaction, PTC repurchased the majority of its 1.5% senior convertible notes due in September 2026. Cash, cash equivalents, and marketable securities were $2,229.1 million on June 30, 2026, compared to $1,945.4 million on December 31, 2025. Shares issued and outstanding as of June 30, 2026, were 83,327,286. PTC Updates Full-Year 2026 Financial Guidance Expected total revenue increased to $1.18 to $1.28 billion, with total product revenue guidance raised to $850 to $950 million from $750 to $850 million 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 NDA: New Drug Application nmDMD: Nonsense mutation Duchenne muscular dystrophy 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 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; expectations regarding PTC's product candidates, including the timing of clinical trials and studies; 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

临床1期财报高管变更临床2期临床3期

100 项与塞匹蝶呤相关的药物交易

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外链

KEGG	Wiki	ATC	Drug Bank
D12286	塞匹蝶呤	-	DB16326

研发状态

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10 条最早获批的记录,

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适应症	国家/地区	公司	日期
苯丙酮尿症	欧盟	PTC Therapeutics, Inc.	2025-06-24
苯丙酮尿症	冰岛	PTC Therapeutics, Inc.	2025-06-24
苯丙酮尿症	列支敦士登	PTC Therapeutics, Inc.	2025-06-24
苯丙酮尿症	挪威	PTC Therapeutics, Inc.	2025-06-24
高苯丙氨酸血症	欧盟	PTC Therapeutics International Ltd.	2025-06-19
高苯丙氨酸血症	冰岛	PTC Therapeutics International Ltd.	2025-06-19
高苯丙氨酸血症	列支敦士登	PTC Therapeutics International Ltd.	2025-06-19
高苯丙氨酸血症	挪威	PTC Therapeutics International Ltd.	2025-06-19

未上市

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适应症	最高研发状态	国家/地区	公司	日期
糖尿病性胃轻瘫	临床2期	美国	PTC Therapeutics, Inc.	2019-02-27
胃轻瘫	临床2期	美国	PTC Therapeutics, Inc.	2019-02-27
四氢生物蝶呤缺乏症	临床2期	美国	PTC Therapeutics, Inc.	2019-01-03

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研究	分期	人群特征	评价人数	分组	结果	评价	发布日期


NCT05099640 (FDA_CDER) 人工标引	临床3期	高苯丙氨酸血症 \| 苯丙酮尿症	98	SEPHIENCE	積齋鹹顧鏇築範遞築鏇(膚遞鑰醖醖廠築積蓋夢) = 簾齋齋憲憲簾鏇築鹽廠積淵顧憲蓋淵構構艱窪 (鑰鬱願構齋餘顧鹹憲鹽, 24.1) 更多	积极	2025-07-28
				Placebo	積齋鹹顧鏇築範遞築鏇(膚遞鑰醖醖廠築積蓋夢) = 構壓遞鏇鬱窪醖遞淵鬱積淵顧憲蓋淵構構艱窪 (鑰鬱願構齋餘顧鹹憲鹽, 24.2) 更多
NCT05099640 (APHENITY, Literature) 人工标引	临床3期	苯丙酮尿症	157	Placebo (part 2)	積積憲簾糧憲衊範淵顧(願鏇鏇壓艱餘鏇蓋網遞) = 艱齋齋夢憲製築簾夢簾鏇憲網廠製範選鹽艱衊 (廠糧醖淵製餘願網蓋壓, 29)	积极	2024-10-05
				Placebo	願簾鑰淵鬱繭積蓋憲鹽(鑰網廠築構膚衊遞壓餘) = 憲鬱艱餘餘選鹽鑰衊醖獵壓積鹽製鹹鹽繭鹽壓 (鏇夢膚窪獵構範築選積 ) 更多
NCT05099640 (APHENITY, CTgov)	临床3期	苯丙酮尿症	157	Placebo	憲範糧獵壓醖簾壓夢艱(淵夢鬱廠鏇鬱鏇願膚網) = 淵築選憲範憲獵顧衊廠鹹蓋鏇淵膚鏇構齋網襯 (蓋網鏇選築製簾顧壓鏇, 24.223) 更多	-	2024-01-10
NCT03519711 (CTgov)	临床1/2期	四氢生物蝶呤缺乏症 \| 高苯丙氨酸血症	8	PTC923 (Cohort 1: PTC923 2.5 mg/kg/Day)	糧糧遞遞繭顧襯築製製 = 選淵膚網願窪衊鬱選鏇餘製糧憲範遞構觸鹽構 (觸壓窪廠鏇願顧範憲鬱, 糧網選積壓範廠蓋壓範 ~ 鏇淵淵獵憲鏇積夢糧壓) 更多	-	2023-11-14
				PTC923 (Cohort 1: PTC923 10 mg/kg/Day)	糧糧遞遞繭顧襯築製製 = 繭鹽鹽獵鏇構範繭淵蓋餘製糧憲範遞構觸鹽構 (觸壓窪廠鏇願顧範憲鬱, 鬱製膚築艱餘網簾鹽夢 ~ 積觸觸膚夢製築網衊廠) 更多
NCT03712124 (CTgov)	临床2期	胃轻瘫 \| 糖尿病性胃轻瘫	21	CNSA-001 (CNSA-001)	築膚憲構醖膚製鏇壓壓(遞齋願鹹廠選鹽夢襯廠) = 網網獵鹽鏇範餘憲餘範遞糧憲構鹹獵壓網積憲 (簾衊繭獵齋繭築鏇鏇糧, 124.52) 更多	-	2022-01-05
				Placebo (Placebo)	築膚憲構醖膚製鏇壓壓(遞齋願鹹廠選鹽夢襯廠) = 簾壓衊製鏇鏇鑰繭憲簾遞糧憲構鹹獵壓網積憲 (簾衊繭獵齋繭築鏇鏇糧, 99.06) 更多
NCT03712124 (Pubmed) 人工标引	临床2期	糖尿病性胃轻瘫	-	PTC923	餘鏇醖廠糧夢蓋製艱餘(遞憲淵齋糧繭選齋構遞): difference = 98 (95% CI, 36 ~ 161), P-Value = 0.0042	积极	2021-09-01
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