欧洲药品管理局已受理 PTC Therapeutics旗下Translarna（ataluren）用于无义突变囊性纤维化（nmCF）的新适应症申请，用于未使用慢性吸入型氨基糖苷抗生素的患者。如果获得批准，Translarna将成为首款针对nmCF潜在病因的口服蛋白修复治疗药物。大约10%的囊性纤维化患者其疾病由无义突变导致，无义突变可导致最严重的囊性纤维化。
我们非常高兴将该药物的第二种适应症向前推进，这一适应症代表了实现 Translarna全部潜能的另一个里程碑，PTC Therapeutics首席执行官Peltz博士称。我们渴望将Translarna带给无义突变囊性纤维化患者，这些患者目前没有其它治疗选择用于他们疾病的潜在病因。我们期望与监管机构一起合作，帮助尽快将这一精准药物带给患者。
Translarna 在无义突变引起的遗传性疾病中能形成功能性蛋白
无义突变囊性纤维化是一种严重形式的囊性纤维化，其在治疗上非常具有挑战性。我们很高兴在不久将来可以有一种治疗选择用于nmCF患者，CF欧洲总裁 Noordhoek 称。正在取得的可以更好地理解与治疗囊性纤维化潜在遗传因素的进展是非常关键的，必须继续进行下去。」
Translarna 用于 nmCF的监管申请基于该公司之前宣布完成的双盲、安慰剂对照 3期研究的分析，该研究在nmCF患者中对Translarna与安慰剂进行了对比。PTC 正在进行一项额外的Translarna用于nmCF患者的随机、双盲、安慰剂对照 3期研究，预期今年底完成患者招募，关键结果有望2016年底获得。
Translarna是一种蛋白修复治疗药物，其旨在无义突变引起的遗传性疾病患者中使功能性蛋白得以形成。无义突变是遗传密码的一种改变，它提交中止了一种必需蛋白质的合成。由此导致的障碍由蛋白质不能完整地表达及不再有更长久的功能所决定。
New Drugs Online Report for ataluren
Information
Generic Name: ataluren  
Trade Name: Translarna 
Synonym: PTC124 
Entry Type: New molecular entity  
Development and Regulatory status
UK: Approved (Licensed) 
EU: Launched 
US: Pre-registration (Filed) 
UK launch Plans: Available only to registered users
Actual UK launch date:  
Comments
Oct 15: PTC plans to submit data to the EMA and complete our NDA submission to the FDA by end of 2015 [29].
19/10/2015 09:55:01 
Mar 15: Additional launches are expected in other countries throughout 2015. [27]
30/03/2015 12:34:51 
Dec 14: Company commence rolling submission of a New Drug Application (NDA) to the US FDA for Translarna to treat nonsense mutation Duchenne muscular dystrophy (nmDMD). The NDA will be finalised once the ACT DMD confirmatory PIII study completes [26]. 
24/12/2014 08:42:10 
Dec 14: Launched in Germany, first launch in an EU country [25].
05/12/2014 10:24:34 
Aug 14: EU conditional approval of ataluren for DMD caused by a nonsense mutation. The conditional approval allows PTC to market ataluren in all 28 EU member countries for one year, at which point results from an ongoing PIII trial will be eva luated [24].
05/08/2014 09:10:11 
May 14: Following a re-examination procedure, the CHMP adopted a positive opinion, recommending the granting of a conditional marketing authorisation for Translarna intended for the treatment of DMD [23].
27/05/2014 10:53:58 
March 14: CHMP plans to await data from an ongoing confirmatory phase III trial, which is expected to complete patient enrolment in mid-2014 and top-line data are subsequently expected in mid-2015. PTC Therapeutics intends to request a re-examination of the negative opinion, with a final outcome expected in the second quarter of 2014 once the study is more fully enrolled. [22]
27/03/2014 14:19:24 
Feb 14: Company has requested a re-examination of CHMP´s negative opinion [20].
25/02/2014 11:09:21 
Jan 14: Enrollment in the PIII study, now required for registration, will be complete mid-2014 with results available mid-2015 [19]. 
02/02/2014 20:45:36 
Jan 14: CHMP negative opinion recommending against EU approval of ataluren for nmDMD. The CHMP noted that the main study failed to show pts taking ataluren could walk in six minutes a greater distance than pts taking placebo. Other measures of effectiveness, inc