美国生物制药公司PTC Therapeutics 5月23日宣布，药物Translarna（ataluren）获得了欧洲药品管理局（EMA）人用医药产品委员会（CHMP）的积极意见。CHMP建议有条件批准（conditional approval）Translarna用于5岁及以上无义突变型杜氏肌营养不良（nmDMD）卧床患者的治疗。
欧盟委员会（EC）将参考CHMP的意见，预计在未来3个月内作出最终审查决定。
今年1月，CHMP曾给予Translarna消极意见，随后PTC提交额外分析数据，要求重新审查。
此次CHMP的积极意见，是基于一项IIb期研究的数据及后续分析数据。该项研究是一项48周、安慰剂对照、双盲试验，在174例无义突变型杜氏肌营养不良（nmDMD）患者中开展。数据表明，与安慰剂治疗组相比，Translarna（40mg/kg/天）治疗组6分钟步行距离（6MWD）平均增加31.3米，下床活动下滑速率也较慢。安全性数据表明，Translarna一般耐受性良好，严重不良事件少见。
此外，Translarna的III期ACT DMD临床试验正在进行中，预计将在2014年中期完成全部患者招募。
ATALUREN (Translarna) - An Investigational New Drug for Nonsense Mutations by PTC Therapeutics
Frequently Asked Questions (FAQs):
What is the current status of TranslarnaTM (ataluren)?
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PTC recently announced that the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency has adopted a positive opinion regarding the company’s application for a conditional marketing authorization of ataluren for the treatment of nonsense mutation Duchenne (nmDMD) in ambulatory patients aged five years and older. Ataluren will be marketed under the brand name TranslarnaTM, and is the first drug for the underlying cause of DMD to receive a positive opinion from the CHMP. Although no equivalent conditional approval program is available in the US, PTC will continue to engage with regulators to determine a path forward for access for all nmDMD patients who may benefit from Translarna.
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PTC Therapeutics is conducting the Ataluren Confirmatory Trial in Duchenne muscular dystrophy (ACT DMD), a Phase 3 trial of the drug in patients with nmDMD. This randomized, double-blind, placebo-controlled trial is designed to confirm the safety and efficacy results seen in its Phase 2b study. The study will enroll 220 participants at approximately 58 sites in North America, South America, Europe, Israel, Asia and Australia. Successful results of this trial will provide the basis for a full approval decision in the EU and the US as well as other countries to follow.
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Studies for nmDMD patients previously enrolled in Translarna trials are ongoing in each of their countries.
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Translarna is also being studied in patients with cystic fibrosis (CF) in the recently opened Ataluren Confirmatory Trial in Cystic Fibrosis (ACT CF).
What is a nonsense mutation?
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A nonsense mutation is a premature stop signal in the genetic code that interrupts the production of a protein. Proteins are essential to the proper working of every cell in the body. Nonsense mutations result in incomplete proteins that do not function properly and in turn cause a genetic disorder. For example, in nmDMD, the muscle protein dystrophin is incomplete and non-functional, leading to muscle wasting and progressive loss of muscle strength.
What is the goal or purpose of this research?
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Translarna is an investigational new drug that is designed to enable the formation of a functioning protein in a patient with a genetic disorder due to a nonsense mutation. Translarna is taken orally and has the potential to treat the root cause of the disorder by overriding the premature stop signal so that a functional protein can be made. It does not alter a patient’s genetic code or introduce genetic materials into the body.
Who is funding this research?
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Translarna was discovered and developed by PTC Therapeutics. Its development has been supported by the FDA Office of Orphan Products Development, Parent Project Muscular Dystrophy, the Muscular Dystrophy Association, Cystic Fibrosis Foundation Therapeutics Inc., and the National Center for Research Resources.
When will Translarna be commercially available?
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Translarna is an investigational new drug that is currently only available through clinical trials. It has received a positive opinion from the CHMP which would normally lead to conditional approval in the EU and certain other European countries within three months. It has not been approved for use by regulatory authorities in any other countries and thus cannot be legally purchased for use by a patient. Based on estimates regarding patient enrollment, initial, top-line data from the Phase 3 clinical trial are expected in mid-2015. If trial results support approval and FDA approves our application, Translarna could be available in the US as early as the second half of 2016. PTC plans to apply for approval in other countries following US approval. Conditional approval in the EU could make it available there as early as 2014, pending country by country final activities that make access possible.
How can I find out if Translarna would benefit my child?
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Approximately 13% of boys with DMD have a nonsense mutation. You should discuss genetic testing with your child’s physician or a genetic counselor. Usually, only a small amount of blood is required to perform the test. The blood sample must be sent to a specialized laboratory that has expertise in DMD. Translarna is specifically for patients with a nonsense mutation. It will not benefit patients whose DMD is caused by a different mutation, such as a deletion or duplication.
Where can I learn more about Translarna?
