Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients

被引：38

作者：

McDonald, Craig M. ^{[1
]}

Muntoni, Francesco ^{[2
,3
,4
]}

Penematsa, Vinay ^{[5
]}

Jiang, Joel ^{[5
]}

Kristensen, Allan ^{[5
]}

Bibbiani, Francesco ^{[5
]}

Goodwin, Elizabeth ^{[5
]}

Gordish-Dressman, Heather ^{[6
,7
]}

Morgenroth, Lauren ^{[8
]}

Werner, Christian ^{[9
]}

Li, James ^{[5
]}

Able, Richard ^{[5
]}

Trifillis, Panayiota ^{[5
]}

Tulinius, Mar ^{[10
]}

机构：

[1] Univ Calif Davis, Dept Pediat, Sch Med, Davis, CA 95616 USA

[2] UCL, Dubowitz Neuromuscular Ctr, London, England

[3] UCL, MRC Ctr Neuromuscular Dis, London, England

[4] UCL, NIHR Great Ormond St Hosp, Biomed Res Ctr, Great Ormond St Inst Child Hlth,Great Ormond St H, London, England

[5] PTC Therapeut, South Plainfield, NJ USA

[6] Childrens Natl Hlth Syst, Ctr Genet Med, Washington, DC USA

[7] George Washington, Washington, DC USA

[8] Therapeut Res Neuromuscular Disorders Solut, Pittsburgh, PA USA

[9] PTC Therapeut Germany GmbH, Frankfurt, Germany

[10] Gothenburg Univ, Queen Silvia Childrens Hosp, Dept Pediat, Gothenburg, Sweden

来源：

JOURNAL OF COMPARATIVE EFFECTIVENESS RESEARCH | 2021年 / 11卷 / 03期

基金：

美国国家卫生研究院;

关键词：

ataluren; dystrophin; efficacy; loss of ambulation; nonsense mutation Duchenne muscular dystrophy; respiratory function; Study; 019; NATURAL-HISTORY; GLUCOCORTICOIDS; PROGRESSION; MANAGEMENT; DIAGNOSIS; BENEFITS; LIFE; DMD;

D O I：

10.2217/cer-2021-0196

中图分类号：

R19 [保健组织与事业（卫生事业管理）];

学科分类号：

100404 [儿少卫生与妇幼保健学];

摘要：

Aim: We investigated the effect of ataluren plus standard of care (SoC) on age at loss of ambulation (LoA) and respiratory decline in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) versus patients with DMD on SoC alone. Patients & methods: Study 019 was a long-term Phase III study of ataluren safety in nmDMD patients with a history of ataluren exposure. Propensity score matching identified Study 019 and CINRG DNHS patients similar in disease progression predictors. Results & conclusion: Ataluren plus SoC was associated with a 2.2-year delay in age at LoA (p = 0.0006), and a 3.0-year delay in decline of predicted forced vital capacity to <60% in nonambulatory patients (p = 0.0004), versus SoC. Ataluren plus SoC delays disease progression and benefits ambulatory and nonambulatory patients with nmDMD. ClinicalTrials.gov: .

引用

页码：139 / 155

页数：17

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