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Ataluren treatment of patients with nonsense mutation dystrophinopathy.

Publication ,  Journal Article
Bushby, K; Finkel, R; Wong, B; Barohn, R; Campbell, C; Comi, GP; Connolly, AM; Day, JW; Flanigan, KM; Goemans, N; Jones, KJ; Mercuri, E ...
Published in: Muscle Nerve
October 2014

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.

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Published In

Muscle Nerve

DOI

EISSN

1097-4598

Publication Date

October 2014

Volume

50

Issue

4

Start / End Page

477 / 487

Location

United States

Related Subject Headings

  • Walking
  • Time Factors
  • Prospective Studies
  • Oxadiazoles
  • Outcome Assessment, Health Care
  • Neurology & Neurosurgery
  • Muscular Dystrophy, Duchenne
  • Male
  • International Cooperation
  • Humans
 

Citation

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Chicago
ICMJE
MLA
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Bushby, K., Finkel, R., Wong, B., Barohn, R., Campbell, C., Comi, G. P., … PTC124-GD-007-DMD STUDY GROUP, . (2014). Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle Nerve, 50(4), 477–487. https://doi.org/10.1002/mus.24332
Bushby, Katharine, Richard Finkel, Brenda Wong, Richard Barohn, Craig Campbell, Giacomo P. Comi, Anne M. Connolly, et al. “Ataluren treatment of patients with nonsense mutation dystrophinopathy.Muscle Nerve 50, no. 4 (October 2014): 477–87. https://doi.org/10.1002/mus.24332.
Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, et al. Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle Nerve. 2014 Oct;50(4):477–87.
Bushby, Katharine, et al. “Ataluren treatment of patients with nonsense mutation dystrophinopathy.Muscle Nerve, vol. 50, no. 4, Oct. 2014, pp. 477–87. Pubmed, doi:10.1002/mus.24332.
Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O’donnell MW, Peltz SW, Mcdonald CM, PTC124-GD-007-DMD STUDY GROUP. Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle Nerve. 2014 Oct;50(4):477–487.
Journal cover image

Published In

Muscle Nerve

DOI

EISSN

1097-4598

Publication Date

October 2014

Volume

50

Issue

4

Start / End Page

477 / 487

Location

United States

Related Subject Headings

  • Walking
  • Time Factors
  • Prospective Studies
  • Oxadiazoles
  • Outcome Assessment, Health Care
  • Neurology & Neurosurgery
  • Muscular Dystrophy, Duchenne
  • Male
  • International Cooperation
  • Humans