Ontology highlight
ABSTRACT:
SUBMITTER: Bushby K
PROVIDER: S-EPMC4241581 | biostudies-literature | 2014 Oct
REPOSITORIES: biostudies-literature
Muscle & nerve 20141001 4
<h4>Introduction</h4>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.<h4>Methods</h4>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. Th ...[more]