In:
Muscle & Nerve, Wiley, Vol. 50, No. 4 ( 2014-10), p. 477-487
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. Muscle Nerve 50 : 477–487, 2014
Type of Medium:
Online Resource
ISSN:
0148-639X
,
1097-4598
Language:
English
Publisher:
Wiley
Publication Date:
2014
detail.hit.zdb_id:
1476641-3
SSG:
12
Permalink