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ATALUREN TREATMENT OF PATIENTS WITH NONSENSE MUTATION DYSTROPHINOPATHY MUSCLE & NERVE Bushby, K., Finkel, R., Wong, B., Barohn, R., Campbell, C., Comi, G. P., Connolly, A. M., Day, J. W., Flanigan, K. M., Goemans, N., Jones, K. J., Mercuri, E., Quinlivan, R., Renfroe, J. B., Russman, B., Ryan, M. M., Tulinius, M., Voit, T., Moore, S. A., Sweeney, H. L., Abresch, R. T., Coleman, K. L., Eagle, M., Florence, J., Gappmaier, E., Glanzman, A. M., Henricson, E., Barth, J., Elfring, G. L., Reha, A., Spiegel, R. J., O'Donnell, M. W., Peltz, S. W., McDonald, C. M. 2014; 50 (4): 477-487

Abstract

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.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.Ataluren was generally well tolerated. The primary endpoint favored ataluren 10, 10, 20 mg/kg versus placebo; the week 48 6MWD ??=?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.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.

View details for DOI 10.1002/mus.24332

View details for Web of Science ID 000342634100002

View details for PubMedID 25042182