Ataluren treatment of patients with nonsense mutation dystrophinopathy

Katharine Bushby, Richard Finkel, Brenda Wong, Richard Barohn, Craig Campbell, Giacomo P. Comi, Anne M. Connolly, John W. Day, Kevin M. Flanigan, Nathalie Goemans, Kristi J. Jones, Eugenio Mercuri, Ros Quinlivan, James B. Renfroe, Barry Russman, Monique M. Ryan, Mar Tulinius, Thomas Voit, Steven A. Moore, H. Lee SweeneyRichard T. Abresch, Kim L. Coleman, Michelle Eagle, Julaine Florence, Eduard Gappmaier, Allan M. Glanzman, Erik Henricson, Jay Barth, Gary L. Elfring, Allen Reha, Robert J. Spiegel, Michael W. O'donnell, Stuart W. Peltz, Craig M. Mcdonald

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)477-487
Number of pages11
JournalMuscle and Nerve
Issue number4
Publication statusPublished - Oct 1 2014


  • Duchenne muscular dystrophy
  • Genetic
  • Nonsense mutation
  • Orphan
  • Pediatric

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)
  • Physiology


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