An Open-Label Study Evaluating the Safety and Pharmacokinetics of Ataluren in Children From ≥6 Months to <2 Years of Age With Nonsense Mutation Duchenne Muscular Dystrophy

This study is designed to evaluate safety, tolerability, and pharmacokinetics (PK) in male children with nmDMD aged ≥6 months to <2 years treated daily for 24 weeks with orally administered ataluren 10, 10, and 20 milligrams/kilogram (mg/kg) (morning, mid-day, and evening dose, respectively).

开始日期2021-12-29

申办/合作机构

PTC Therapeutics, Inc.

CTR20211795

/ Completed临床3期

一项 ATALUREN (PTC124) 在无义突变型杜兴氏肌营养不良患者中的长期安全性、疗效和耐受性的开放性研究

本研究的目标在于评估长期 Ataluren 10 mg/kg 、10 mg/kg 和 20 mg/kg 给药在完成 III 期研究 (PTC124-GD-041-DMD )后希望继续接受治疗的 nmDMD 受试者中的安全性、疗效和耐受性。将根据所有不良事件 (AE)、实验室检查异常、生命体征、心电图 (ECG)、超声心动图和体格检查结果的类型、频率、严重程度、时间以及与 Ataluren 的关系来描述 Ataluren 的安全性特征。Ataluren 的疗效将根据上肢功能 (PUL)、DMD 上肢患者报告结局指标 (PROM)、肺量测定、行走能力丧失 (LoA)和 6 分钟步行试验 (6MWT)较基线的变化来评估。

开始日期2021-09-14

申办/合作机构

ROVI Pharma Industrial Services SA

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100 项与爱塔乐伦相关的临床结果

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100 项与爱塔乐伦相关的转化医学

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100 项与爱塔乐伦相关的专利（医药）

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328

项与爱塔乐伦相关的文献（医药）

2026-10-01·LIFE SCIENCES

Patient-derived cornea organoids as drug repurposing models for aniridia-associated keratopathy

Article

作者: Koc, Ali Can ; Karakülah, Gökhan ; Kocak, Gamze ; Kahveci, Burak ; Mardinoglu, Adil ; Güven, Sinan ; Utine, Canan Aslı

AIMS:

This study aims to investigate the efficacy of drug repurposing using a corneal organoid model developed from patient-derived iPSCs and to elucidate the pathophysiology of Aniridia-Associated Keratopathy (AAK).

MATERIALS AND METHODS:

A 90-day stepwise differentiation protocol was used to generate corneal organoids from iPSC cell lines developed from aniridia patients and healthy control. The corneal organoids produced were characterized using histology, immunofluorescence, qPCR, western blot, and transcriptomics. Two known agents, Duloxetine and Ataluren, were tested for corneal organoids for the restoring PAX6 protein expression.

KEY FINDINGS:

Histological analyses showed that the corneal organoids had a similar architecture to the native corneal tissue. Corneal epithelial, stromal, and endothelial cell biomarker staining showed positive expressions. AAK corneal organoids exhibited features that indicate the AAK disease phenotype, such as thickening of the epithelial cell layers and decrease in expressions of PAX6, ΔNP63, and keratocan genes. An increase in PAX6 protein was observed in organoids produced from AAK1 after duloxetine treatment and in organoids produced from AAK2 following ataluren treatment. AAK3 did not respond to either agent, indicating that there was no mutation-specific drug activity. Transcriptomic analyses showed clear corneal differentiation and absence of retina or lens profile in organoids.

SIGNIFICANCE:

This study presents patient-specific organoid models for AAK using iPSCs and offers insight into mutation effects and PAX6 restoration following drug repurposing. The findings form the basis of personalized treatments for congenital aniridia.

2026-06-01·JOURNAL OF DERMATOLOGICAL SCIENCE

Identification of novel small molecule compounds with readthrough activity in Nagashima-type palmoplantar keratosis

Article

作者: Ohguchi, Yuka ; Miyauchi, Toshinari ; Suzuki, Shotaro ; Sugiyama, Takato ; Takeda, Masae ; Nomura, Toshifumi ; Ujiie, Hideyuki ; Peh, Jin Teng ; Nobuta, Risa

BACKGROUND:

Nagashima-type palmoplantar keratosis (NPPK), the most common form of hereditary palmoplantar keratodermas in East Asian populations, is caused by biallelic loss-of-function mutations in SERPINB7 such as p.Arg266Ter (c.796 C>T). This mutation introduces a premature termination codon (PTC). Given the minimal efficacy of current drugs in improving NPPK skin phenotypes, we applied readthrough therapy to enable the production of functional proteins by allowing ribosomes to read through premature stop codons.

OBJECTIVE:

To discover small molecule compounds with readthrough potency.

METHODS:

Using high-throughput screening, we initially screened nearly 20,000 small molecule compounds. Using Western blot, we assessed the readthrough effectiveness of shortlisted compounds on the mutant SERPINB7 vector. We identified a promising compound and acquired structurally related compounds, comparing then their potency with that of gentamicin and ataluren. In addition, we evaluated the readthrough capability of the identified compounds on other 11 premature termination codons with different + 4 nucleotides.

RESULTS:

The identified hit compounds demonstrated superior readthrough efficacy than gentamicin and ataluren. Notably, our compounds were effective in enabling readthrough, particularly on UGAA and UAAG premature stop codons.

CONCLUSION:

Our research identified new compounds that effectively promote the readthrough of premature stop codons. In vitro, these compounds showed higher readthrough potency than drugs such as gentamicin or ataluren. These results suggest that these compounds could be promising therapeutic agents for genetic diseases caused by nonsense mutations.

2026-06-01·EPILEPSIA

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A ‐related developmental and epileptic encephalopathy

Article

作者: Antonio Musio ; Iñigo Marcos-Alcalde ; Francesca Sardina ; Ian D. Krantz ; Cinzia Rinaldo ; Maddalena Di Nardo ; Paulino Gómez-Puertas ; Maria M. Pallotta

Abstract:

Objective:

This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic alterations.

Methods:

The study analyzed transcriptomic profiles from cell lines derived from individuals with DEE85 and Cornelia de Lange syndrome (CdLS), comparing the effects of different SMC1A variants. Particular focus was placed on nonsense variants and their impact on gene expression. Functional assays were conducted to assess the ability of ataluren to restore SMC1A protein expression, correct transcriptional defects, and reduce genomic instability.

Results:

Transcriptomic alterations were strongly dependent on variant type, with nonsense variants causing the most profound gene expression changes. DEE85 and CdLS cell lines exhibited distinct transcriptional signatures. Treatment with ataluren led to successful restoration of SMC1A protein levels, partial correction of gene expression abnormalities, and a reduction in genomic instability in cells harboring nonsense variants.

Significance:

These findings demonstrate that SMC1A ‐related epileptic encephalopathies are driven by variant‐specific molecular mechanisms and highlight the therapeutic promise of ataluren for DEE85. The study supports further development of precision medicine strategies targeting nonsense variants in SMC1A , with potential implications for improving diagnosis, treatment, and quality of life in affected individuals.

137

项与爱塔乐伦相关的新闻（医药）

2026-09-02

·allsci.com

University of Toronto, SickKids develop chemically modified tRNA platform for cystic fibrosis nonsense mutations

A chemically modified, lipid nanoparticle-delivered suppressor transfer RNA platform has restored functional cystic fibrosis transmembrane conductance regulator (CFTR) protein in cell lines, a mouse model, and patient-derived organoids, according to a study published August 27, 2026 in Science. The work, with leading contributors including Jingan Chen and Bowen Li, among others, at the University of Toronto and the Hospital for Sick Children (SickKids) in Toronto, addresses a subset of cystic fibrosis (CF) patients — those carrying nonsense mutations — for whom existing CFTR modulator drugs offer little benefit. Roughly 10% of people with CF carry nonsense mutations that introduce a premature termination codon (PTC) into the CFTR messenger RNA, causing the ribosome to halt translation early and produce a truncated, nonfunctional protein. Small-molecule read-through agents such as ataluren (PTC124, PTC Therapeutics), which completed a failed Phase III confirmatory trial in CF (NCT01140451), and the aminoglycoside analogue ELX-02 (Eloxx Pharmaceuticals), which failed Phase II, have not demonstrated sufficient efficacy in this population. The new platform takes a mechanistically distinct approach: engineering tRNA molecules to decode PTCs as sense codons, inserting the correct amino acid and allowing the ribosome to produce full-length CFTR protein. The platform combines two components: suppressor tRNAs (sup-tRNAs) with anticodons redesigned to read through PTCs, and a purpose-built lipid nanoparticle (LNP) formulation designated TTP-3. The key chemical advance is site-specific incorporation of N1-methyladenosine (m¹A) at positions 57 or 58 of the tRNA. The paper reports that this single modification increased PTC readthrough by up to 10.6-fold for an arginine sup-tRNA compared with unmodified controls, while simultaneously enhancing aminoacylation efficiency, prolonging functional persistence in cells, and reducing innate immune activation — recapitulating the modification patterns of endogenous mature tRNAs that protect them from immune detection. TTP-3 was identified from a screen of more than 1,000 ionizable lipids specifically optimized for structured tRNA cargo, which the authors report behaves differently from the linear mRNA for which existing LNP formulations were designed. Intratracheal administration in CFTR R553X knock-in mice confirmed pulmonary delivery to airway epithelial and progenitor cells, tracked using a Mango II RNA aptamer inserted into the sup-tRNA for in vivo biodistribution imaging. In CFTR-mutant bronchial epithelial cells, treatment restored both CFTR protein expression and chloride channel activity. In R553X knock-in mice, sup-tRNA/TTP-3 treatment produced measurable CFTR-dependent intestinal organoid swelling — a functional readout of ion transport reflecting full-length protein production rather than mere expression. In patient-derived organoids carrying a complex CFTR genotype, co-treatment with the sup-tRNA platform and elexacaftor/tezacaftor/ivacaftor (Trikafta, Vertex Pharmaceuticals) produced enhanced CFTR functional restoration compared with either approach alone, consistent with additive or complementary activity between the two approaches. The most direct clinical comparator is Cambridge, Massachusetts-based Alltrna (a Flagship Pioneering company), whose engineered sup-tRNA AP003 — targeting arginine-to-TGA PTCs in rare genetic liver diseases via a systemically administered, liver-directed LNP — became the first tRNA therapeutic to enter human trials when Australia's Therapeutic Goods Administration cleared a Phase I single ascending dose study in healthy volunteers in March 2026. AP003 uses a mechanistically similar approach but differs in indication, delivery route, and target tissue. In the CF-specific inhaled LNP space, the most advanced program is ARCT-032 (Arcturus Therapeutics), an inhaled LNP-based therapy in an active Phase II trial (NCT06747858) that has released interim data reported as safe, well tolerated, and showing early signs of clinical activity in Class I CF patients carrying nonsense mutations — the same population the sup-tRNA platform targets. Vertex's inhaled mRNA candidate VX-522 (NCT05668741) was terminated in Q1 2026 due to persistent tolerability issues. Spirovant Sciences has dosed the first patient in its SAAVe Phase I/II trial of an aerosol-delivered AAV gene therapy for CF nonsense mutations. ReCode Therapeutics is running a Phase II trial of its inhaled CFTR mRNA/LNP candidate RCT2100 (NCT06237335), with a separate Phase IIa combination study reported as fully enrolled with results expected by end of 2026. The TTP-3/sup-tRNA platform remains preclinical, and important safety and translational questions remain. An accompanying Science Perspective highlighted dose-dependent pulmonary inflammation observed in mice following LNP administration, underscoring the need to establish whether repeat inhaled dosing can achieve therapeutic exposure without unacceptable respiratory toxicity. The in vivo efficacy data also derive from a limited number of models, including a single CFTR nonsense-mutation mouse model. The authors describe the platform as potentially applicable to other genetic diseases sharing the same nonsense codon class, though no data in non-CFTR disease models are presented. Spot something wrong? Report an issue with this article

2026-08-12

·动脉网

PTC将通过收购处于生物制品许可申请（BLA）阶段的 ST-920法布里病项目，扩大其罕见病产品组合PTC to Expand Rare Disease Portfolio with Acquisition of BLA-Stage ST-920 Fabry Disease Program

– Planned acquisition leverages existing regulatory and commercial infrastructure and leadership's experience in Fabry therapy commercialization – – 计划中的收购将利用现有的监管和商业基础设施，以及管理层在法布里疗法商业化方面的经验 –– ST-920 is a one-time administered AAV gene therapy for the enzyme deficient in Fabry disease with demonstrated long-term clinical benefits and safety profile – – ST-920 是一种一次性给药的 AAV 基因疗法，针对法布里病中缺乏的酶，已证实具有长期的临床获益和良好的安全性特征 –– BLA submission expected to be completed in Q4 2026 with potential for commercial launch in 2027 – – 预计将于2026年第四季度完成生物制品许可申请（BLA）的提交，并有望于2027年启动商业化上市 –– PTC will host a conference call today, Aug. 12, at 5 p.m. ET – – PTC 将于今天（8月12日）美国东部时间下午5点举行电话会议 –WARREN, N.J. 新泽西州沃伦, ，Aug. 12, 2026 2026年8月12日/PRNewswire/ -- PTC Therapeutics, Inc., (NASDAQ: /美通社/ -- PTC Therapeutics, Inc.（纳斯达克股票代码：PTCT PTCT) today announced that it was selected as the winning bidder to acquire ST-920 – a BLA-stage one-time administered AAV gene therapy for Fabry disease – from Sangamo Therapeutics in a competitive bankruptcy auction. The terms include $111 million upfront and up to $100 million in contingent milestone payments based on certain regulatory approvals.A rolling BLA submission to FDA for accelerated approval of ST-920 is expected to be completed in Q4 2026. ）今日宣布，在一场竞争性破产拍卖中，其被选为中标方，将从Sangamo Therapeutics收购ST-920——一种处于生物制品许可申请（BLA）阶段、一次性给药的AAV基因疗法，用于治疗法布里病。交易条款包括1.11亿美元的预付款，以及基于某些监管批准情况、最高可达1亿美元的或有里程碑付款。预计向美国食品药品监督管理局（FDA）提交的ST-920加速批准滚动式BLA申请将于2026年第四季度完成。The BLA is based on evidence of meaningful favorable clinical effect on renal function and safety and tolerability profile over 52 weeks in the Phase 1/2 STAAR study.. 该生物制品许可申请（BLA）基于1/2期STAAR研究中为期52周的证据，证明其对肾功能具有具有临床意义的有利影响，且安全性和耐受性良好。'This transaction advances our strategy of leveraging our accomplished existing rare disease global commercial infrastructure to accelerate short- and intermediate-term revenue growth,' said Matthew B. Klein, M.D., Chief Executive Officer. 'The ST-920 gene therapy program puts another innovative and valuable product in the demonstrated capable hands of our customer-facing teams. “此次交易推进了我们的战略，即利用我们成熟的现有罕见病全球商业化基础设施，加速短期和中期的收入增长。”首席执行官Matthew B. Klein博士表示。“ST-920基因治疗项目将另一款创新且具有高价值的产品，交予我们已证明具备卓越能力的面向客户团队手中。”This was a unique opportunity with the potential for significant return on investment without the need for any development or commercial build and without impacting our objective of reaching cashflow break even in 2026. We look forward to working to bring ST-920 to all individuals who may benefit from this therapy as quickly as possible.'. 这是一次独特的机会，具有显著投资回报的潜力，且无需进行任何开发或商业化建设，也不会影响我们实现2026年现金流盈亏平衡的目标。我们期待尽快推动ST-920惠及所有可能从该疗法中受益的患者。Fabry disease is a rare, inherited lysosomal storage disorder caused by mutations in the GLA gene, resulting in deficiency of the alpha-galactosidase A (α-Gal A) enzyme and causing a range of serious signs and symptoms that require lifelong treatments. It is estimated that there are 11,000 people living with Fabry disease in the United States with similar prevalence rates in markets where PTC has the potential to commercialize.. 法布里病是一种罕见的遗传性溶酶体贮积症，由GLA基因突变引起，导致α-半乳糖苷酶A（α-Gal A）缺乏，并引发一系列需要终身治疗的严重体征和症状。据估计，美国有11,000名法布里病患者，在PTC具有商业化潜力的市场中，其患病率与之相似。ST-920 is designed as a one-time administered AAV gene therapy that enables long-term production of the deficient α-Gal A enzyme and significant reduction in globotriaosylceramide (Gb3) levels with demonstrated durable clinical benefit and reduction of the burden associated with chronic Enzyme Replacement Therapy (ERT). ST-920 是一款设计为单次给药的腺相关病毒（AAV）基因疗法，能够实现缺陷性 α-Gal A 酶的长期产生，并显著降低球三糖神经酰胺（Gb3）水平，已证实其具有持久的临床获益，并可减轻与慢性酶替代疗法（ERT）相关的负担。ST-920 has received Regenerative Medicine Advanced Therapy (RMAT) designation as well as Orphan Drug and Fast Track designations from FDA.. ST-920 已获得美国食品药品监督管理局（FDA）授予的再生医学先进疗法（RMAT）认定，以及孤儿药和快速通道认定。The Phase 1/2 STAAR study demonstrated positive mean annualized estimated glomerular filtration rate (eGFR) slope at 52 weeks following ST-920 administration, as well as evidence of favorable effect on other aspects of Fabry disease including cardiac function and quality of life. The finding of improved eGFR over 52 weeks is differentiated from other Fabry therapies which demonstrated improved renal function but still negative eGFR slope from baseline. 1/2期STAAR研究显示，在给予ST-920后52周时，年化估计肾小球滤过率（eGFR）斜率呈阳性均值，并且有证据表明对法布里病的其他方面（包括心脏功能和生活质量）具有有利影响。在52周内eGFR改善的发现与其他法布里病疗法不同，后者虽显示出肾功能改善，但自基线起的eGFR斜率仍为负值。Furthermore, all study participants on ERT at study start were withdrawn from ERT. Durability of effect has been demonstrated with sustained increased α-Gal A activity maintained for up to 4.5 years for the earliest treated study participant, and evidence of maintained improvements in renal function across the study population. 此外，所有在研究开始时接受酶替代疗法（ERT）的参与者均停止了ERT。疗效的持久性已得到证实：最早接受治疗的参与者在长达4.5年的时间内持续保持α-半乳糖苷酶A（α-Gal A）活性升高，且研究人群整体显示出肾功能改善得以维持的证据。In addition, ST-920 has demonstrated an encouraging safety and tolerability profile and there is no requirement for routine prophylactic or post-infusion systemic immunosuppressive agents.. 此外，ST-920已显示出令人鼓舞的安全性和耐受性特征，且无需常规使用预防性或输注后全身免疫抑制剂。The BLA submission for accelerated approval is based on the intermediate clinical endpoint of annualized eGFR at Week 52 as aligned with FDA, with 104-week results from the STAAR study planned to provide confirmatory evidence to support traditional approval. The nonclinical and clinical BLA modules have already been submitted as part of a rolling submission, with the CMC package expected to be submitted in Q4 2026. 用于加速批准的生物制品许可申请（BLA）基于与FDA商定的第52周年化估算肾小球滤过率（eGFR）这一中间临床终点，并计划提供STAAR研究的104周结果作为确证性证据，以支持传统批准。非临床和临床BLA模块已作为滚动提交的一部分递交，预计化学、制造和控制（CMC）资料包将于2026年第四季度提交。PTC will also pursue regulatory approval outside of the United States, again leveraging existing regulatory and commercial rare disease infrastructure.. PTC 还将寻求在美国以外的监管批准，再次利用现有的罕见病监管和商业基础设施。The acquisition remains subject to definitive documentation, bankruptcy court approval, antitrust review, and other customary closing conditions. It is expected to close in late Q3 or early Q4 2026. 该收购仍须以最终协议的签署、破产法院的批准、反垄断审查以及其他惯例交割条件为前提。预计交易将于2026年第三季度末或第四季度初完成。Conference Call and Webcast Details 电话会议及网络直播详情PTC will hold a conference call today at 5 p.m. ET to discuss this news. To access the live webcast, please visit PTC 将于今日美国东部时间下午 5 点举行电话会议，讨论此新闻。如需收听网络直播，请访问Events & Presentations 活动与演示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 在PTC网站的投资者关系板块。网络直播的回放将在活动结束后的30天内于PTC网站提供。如需通过电话参与，请提前注册here 这里to receive dial-in details. 以获取电话拨入详情。About the STAAR Study 关于STAAR研究The Phase 1/2 STAAR study was a global open-label, single-dose, dose-ranging, multicenter clinical study designed to evaluate isaralgagene civaparvovec, or ST-920, a gene therapy product candidate in patients with Fabry disease. Isaralgagene civaparvovec requires a one-time infusion without preconditioning. STAAR 1/2期研究是一项全球性、开放标签、单剂量、剂量递增的多中心临床研究，旨在评估基因疗法候选产品isaralgagene civaparvovec（又称ST-920）在法布里病患者中的疗效。Isaralgagene civaparvovec只需一次性输注，无需预处理。The STAAR study enrolled patients who were on ERT, were ERT pseudo-naïve (defined as having been off ERT for six or more months), or who were ERT-naïve. The FDA has granted Orphan Drug, Fast Track, and RMAT designations to isaralgagene civaparvovec, which has also received Orphan Medicinal Product designation and PRIME eligibility from the European Medicines Agency and Innovative Licensing and Access Pathway from the U.K. STAAR 研究入组了正在接受酶替代疗法（ERT）的患者、ERT 伪初治患者（定义为已停用 ERT 六个月或更长时间）或 ERT 初治患者。美国食品药品监督管理局（FDA）已授予 isaralgagene civaparvovec 孤儿药、快速通道和再生医学先进疗法（RMAT）认定；该药物还获得了欧洲药品管理局的孤儿药产品认定和优先药物（PRIME）资格，以及英国的创新许可与准入途径（ILAP）资格。Medicines and Healthcare products Regulatory Agency.. 药品和保健品监管局About Fabry Disease 关于法布里病Fabry disease is a lysosomal storage disorder caused by mutations in the galactosidase alpha gene (GLA), which leads to deficient alpha-galactosidase A (α-Gal A) enzyme activity, which is necessary for metabolizing globotriaosylceramide (Gb3). The buildup of Gb3 in the cells can cause serious damage to vital organs, including the kidney, heart, nerves, eyes, gut and skin. 法布里病是一种溶酶体贮积症，由α-半乳糖苷酶基因（GLA）突变引起，导致α-半乳糖苷酶A（α-Gal A）活性不足，而该酶对于代谢三己糖基神经酰胺（Gb3）至关重要。Gb3在细胞内的蓄积可对肾脏、心脏、神经、眼睛、肠道和皮肤等重要器官造成严重损害。Symptoms of Fabry disease can include decreased or absent sweat production, heat intolerance, angiokeratoma (skin blemishes), vision problems, kidney disease, heart failure, gastrointestinal disturbance, mood disorders, neuropathic pain and tingling in the extremities.. 法布里病的症状可能包括汗液分泌减少或缺失、不耐热、血管角皮瘤（皮肤瑕疵）、视力问题、肾脏疾病、心力衰竭、胃肠道紊乱、情绪障碍、神经性疼痛以及四肢麻木和刺痛感。About PTC Therapeutics, Inc. 关于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. PTC 是一家全球性生物制药公司，致力于发现、开发和商业化具有临床差异化优势的疗法，服务于患有罕见病的儿童和成人患者。作为其使命的一部分，PTC 正在推进一个强大且多元化的变革性药物研发管线，旨在为存在未满足医疗需求的患者提供同类最优的治疗方案。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 . 公司的战略是利用其科学专业知识和全球商业基础设施，为患者和其他利益相关者优化价值。如需了解更多关于PTC的信息，请访问。www.ptcbio.com www.ptcbio.comand follow us on LinkedIn, X, Facebook and Instagram. 并在 LinkedIn、X、Facebook 和 Instagram 上关注我们。For more information please contact: 如需更多信息，请联系：Investors: 投资者：Ellen Cavaleri 艾伦·卡瓦莱里+1 (615) 618-8228 +1 (615) 618-8228[emailprotected] [email protected]Media: 媒体：Jeanine Clemente 让妮娜·克莱门特+1 (908) 912-9406 +1 (908) 912-9406[emailprotected] [email protected]Forward-Looking Statements 前瞻性陈述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 Company's expectations regarding the proposed acquisition, including the expectation of finalizing definitive documentation for the transaction and the entry of an bankruptcy court order approving the transaction; the Company's ability to complete the acquisition; the anticipated benefits of ST-920; the timing of and potential for regulatory submissions and potential commercial launch for ST-920, if acquired; and PTC's strategy, future operations, future financial position, future revenues, projected costs; and the objectives of management. 本新闻稿包含经1995年《私人证券诉讼改革法案》界定的前瞻性陈述。除历史事实陈述外，本新闻稿中的所有陈述均为前瞻性陈述，包括公司对拟议收购的预期（包括完成交易最终文件的签署以及获得破产法院批准交易的命令的预期）、公司完成收购的能力、ST-920的预期收益、若完成收购后ST-920监管申报的时间安排和潜力以及潜在的商业发布时间表、PTC的战略、未来运营、未来财务状况、未来收入、预计成本以及管理层的战略目标。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.. 其他前瞻性陈述可通过以下词语识别：“指引”、“计划”、“预期”、“相信”、“估计”、“期望”、“打算”、“可能”、“目标”、“潜在”、“将”、“将会”、“可以”、“应该”、“继续”、“旨在”以及类似表述。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:uncertainty surrounding the bankruptcy's court entry of an order approving the acquisition and the possibility that the acquisition is not completed; 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; exp. PTC的实际结果、业绩或成就可能与其前瞻性陈述中明示或暗示的内容存在重大差异，这是由多种风险和不确定性导致的，包括但不限于以下方面：围绕破产法院批准收购的指令下达的不确定性，以及收购可能无法完成的风险；与第三方支付方就PTC已商业化或未来可能商业化的产品或候选产品进行定价、覆盖范围和报销谈判的结果；对Sephience的预期，包括其商业化进程，以及PTC可能需履行的销售里程碑达成情况和或有付款义务；PTC在已获批地区维持Translarna治疗非杜氏肌营养不良症（nmDMD）的市场营销授权的能力，以及欧洲药品管理局人用药品委员会（CHMP）对Translarna采取负面意见、美国撤回Translarna新药申请（NDA）对其他监管机构产生的影响；对PTC与诺华制药公司就votoplam治疗亨廷顿病达成的许可与合作协议的预期，包括其获得开发、监管和销售里程碑付款、利润分成及特许权使用费的权利，临床试验和研究的设计及预期时间表，数据可用性，监管提交及回应（包括潜在的加速批准）；对Upstaza/Kebilidi的预期，包括其商业化、生产能力，以及PTC可能需履行的销售里程碑达成情况和或有付款义务；exp.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.. 本文所载前瞻性陈述仅反映PTC在本新闻稿发布之日的观点。除非法律另有要求，PTC不承担也不计划更新或修订任何此类前瞻性陈述，以反映实际结果或本新闻稿发布之日后发生的计划、前景、假设、估计或预测的变化，或其他情况。SOURCE PTC Therapeutics, Inc. 来源：PTC Therapeutics, Inc.21 二十一% %more press release views with 更多新闻稿浏览量，使用Request a Demo 申请演示

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 项与爱塔乐伦相关的药物交易

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外链

KEGG	Wiki	ATC	Drug Bank
D09323	爱塔乐伦	M09AX03	DB05016

研发状态

批准上市

10 条最早获批的记录,

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适应症	国家/地区	公司	日期
杜氏肌营养不良症	欧盟	PTC Therapeutics International Ltd.	2014-07-31
杜氏肌营养不良症	冰岛	PTC Therapeutics International Ltd.	2014-07-31
杜氏肌营养不良症	列支敦士登	PTC Therapeutics International Ltd.	2014-07-31
杜氏肌营养不良症	挪威	PTC Therapeutics International Ltd.	2014-07-31

未上市

10 条进展最快的记录,

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适应症	最高研发状态	国家/地区	公司	日期
囊性纤维化	申请上市	欧盟	PTC Therapeutics, Inc.	-
贝克型肌营养不良	临床3期	澳大利亚	PTC Therapeutics, Inc.	2012-05-20
贝克型肌营养不良	临床3期	比利时	PTC Therapeutics, Inc.	2012-05-20
贝克型肌营养不良	临床3期	加拿大	PTC Therapeutics, Inc.	2012-05-20
贝克型肌营养不良	临床3期	法国	PTC Therapeutics, Inc.	2012-05-20
贝克型肌营养不良	临床3期	德国	PTC Therapeutics, Inc.	2012-05-20
贝克型肌营养不良	临床3期	以色列	PTC Therapeutics, Inc.	2012-05-20
贝克型肌营养不良	临床3期	意大利	PTC Therapeutics, Inc.	2012-05-20
贝克型肌营养不良	临床3期	西班牙	PTC Therapeutics, Inc.	2012-05-20
贝克型肌营养不良	临床3期	瑞典	PTC Therapeutics, Inc.	2012-05-20

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临床结果

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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


NCT03179631 (Study 041, CTgov)	临床3期	杜氏肌营养不良症	360	Ataluren (Ataluren)	選餘齋顧襯築壓範鏇鑰(顧糧範窪獵夢餘艱艱淵) = 範糧遞積顧簾鏇顧遞鬱壓糧糧築觸選構窪製窪 (鹽衊淵遞顧鑰鹹選顧繭, 6.461) 更多	-	2026-03-10
NCT03179631 (Study 041, CTgov)	临床3期	杜氏肌营养不良症	360	PLACEBO (Placebo)	選餘齋顧襯築壓範鏇鑰(顧糧範窪獵夢餘艱艱淵) = 醖艱簾餘膚廠範鏇簾淵壓糧糧築觸選構窪製窪 (鹽衊淵遞顧鑰鹹選顧繭, 6.377) 更多	-	2026-03-10
NCT03179631 \| NCT01826487 \| NCT00592553 (Study 041 \| Study 007 \| ACT DMD, AAN2024)	临床2/3期	杜氏肌营养不良症	-	Ataluren	蓋製淵襯鬱蓋衊簾顧繭(獵選觸鹽構網積鑰築製) = 蓋齋糧窪鑰築顧窪齋壓糧鏇鹹鹹鹹壓構餘繭網 (築艱構窪範廠齋築糧蓋 ) 更多	积极	2024-04-09
NCT04336826 (CTgov)	临床2期	杜氏肌营养不良症	6	Ataluren	夢淵鹹鹹鏇顧鹽鑰衊獵 = 淵獵鏇壓鑰衊構簾鑰夢遞簾選齋淵獵積顧醖獵 (淵築壓淵壓鹹構廠鏇夢, 襯鬱築鏇膚襯鹽憲糧淵 ~ 築鬱膚艱獵壓襯築壓構) 更多	-	2024-04-01
NCT03179631 (Study 041, AAN2023)	临床3期	杜氏肌营养不良症 nonsense mutation (nm) DMD	-	Ataluren	淵憲壓襯鏇網簾憲鹹網(鬱範鹹構願糧壓憲艱築) = 鑰獵獵蓋鑰窪蓋遞夢艱艱衊窪遞鑰憲醖構顧鏇 (繭顧範獵簾網蓋廠顧餘 ) 更多	积极	2023-04-25
NCT03179631 (Study 041, MDA2023)	临床3期	杜氏肌营养不良症	701	Ataluren	醖齋衊範鏇膚廠鏇積顧(廠構壓繭蓋襯齋築夢齋) = 餘艱鏇獵鬱蓋獵鹽齋鏇網鏇積網襯網遞壓築蓋 (繭醖膚鹽窪鹹積壓獵壓 ) 更多	积极	2023-03-19
NCT03179631 (Study 041, MDA2023)	临床3期	杜氏肌营养不良症	-	Ataluren	夢遞願範遞憲廠積觸構(築鹽積網鹹願齋鹹簾遞) = 積築鏇糧鬱壓簾壓鹽艱廠顧鹹憲窪製繭餘範遞 (積構網製構鏇構憲鏇鏇 ) 更多	积极	2023-03-19
NCT02139306 \| NCT00803205 \| NCT02107859 (Pubmed \| Cochrane Database Syst Rev)	N/A	囊性纤维化	517	Ataluren and similar compounds	糧網艱觸餘衊蓋膚鬱襯(製鏇艱繭鏇醖憲廠願淵) = Ataluren was associated with a higher rate of episodes of renal impairment (risk ratio 12.81, 95% confidence interval 2.46 to 66.65; P = 0.002; I2 = 0%; 2 trials, 517 participants) 獵顧壓膚選積構憲膚築 (襯積夢鏇夢衊網獵鹽遞 ) 更多	-	2023-03-03
	N/A	囊性纤维化	517	Placebo		-	2023-03-03
NCT02647359 (STAR, CTgov)	临床2期	无虹膜	39	Ataluren (Ataluren)	淵製遞窪遞遞鑰糧醖製(膚簾餘觸鹹繭觸淵選願) = 齋醖鑰簾餘淵獵膚鹽鏇襯範鹽衊膚獵築艱顧壓 (遞網齋築遞遞齋夢鑰鹽, 7.425) 更多	-	2022-05-27
NCT02647359 (STAR, CTgov)	临床2期	无虹膜	39	Placebo+Ataluren (Placebo)	淵製遞窪遞遞鑰糧醖製(膚簾餘觸鹹繭觸淵選願) = 簾艱顧廠憲憲醖鏇顧願襯範鹽衊膚獵築艱顧壓 (遞網齋築遞遞齋夢鑰鹽, 11.809) 更多	-	2022-05-27
NCT03648827 (CTgov)	临床2期	杜氏肌营养不良症	20	Ataluren	襯窪築構襯壓簾鏇鹹簾(鏇繭積築憲艱選顧顧選) = 顧齋壓願遞選製簾壓獵廠淵廠艱觸糧範齋憲顧 (窪鹽範選糧簾願遞憲衊, 鹽製衊構網範壓膚範夢 ~ 壓鹽製襯遞製廠醖壓淵) 更多	-	2022-04-05
NCT03796637 (CTgov)	临床2期	杜氏肌营养不良症	6	Ataluren	範遞繭顧願艱夢鹽艱鹽(願壓憲襯膚遞醖膚願蓋) = 網衊憲鏇齋襯艱積夢繭衊夢觸齋範膚範築積淵 (網願築鏇選餘遞餘膚鹽, 0.05874) 更多	-	2022-04-05