Ataluren treatment of patients with nonsense mutation dystrophinopathy.
Muscle Nerve
; 50(4): 477-87, 2014 Oct.
Article
em En
| MEDLINE
| ID: mdl-25042182
ABSTRACT
INTRODUCTION:
Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders.METHODS:
Randomized, double-blind, placebo-controlled study; males ≥ 5 years with nm-dystrophinopathy received study drug orally 3 times daily, ataluren 10, 10, 20 mg/kg (N=57); ataluren 20, 20, 40 mg/kg (N=60); or placebo (N=57) for 48 weeks. The primary endpoint was change in 6-Minute Walk Distance (6MWD) at Week 48.RESULTS:
Ataluren was generally well tolerated. The primary endpoint favored ataluren 10, 10, 20 mg/kg versus placebo; the week 48 6MWD Δ=31.3 meters, post hoc P=0.056. Secondary endpoints (timed function tests) showed meaningful differences between ataluren 10, 10, 20 mg/kg, and placebo.CONCLUSIONS:
As the first investigational new drug targeting the underlying cause of nm-dystrophinopathy, ataluren offers promise as a treatment for this orphan genetic disorder with high unmet medical need.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Oxidiazóis
/
Distrofina
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Códon sem Sentido
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Distrofia Muscular de Duchenne
Tipo de estudo:
Clinical_trials
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Observational_studies
Limite:
Adolescent
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Child
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Child, preschool
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Humans
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Male
Idioma:
En
Revista:
Muscle Nerve
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
Reino Unido