Clinical Trial: Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional

Official Title: A Phase 3 Efficacy and Safety Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy

Brief Summary: Dystrophinopathy is a disease continuum that includes Duchenne muscular dystrophy, which develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of dystrophinopathy in approximately 10-15% of boys with the disease. Ataluren is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. The main goal of this Phase 3 study is to evaluate the effect of ataluren on walking ability. The effect of ataluren on physical function, quality of life, and activities of daily living will be evaluated. This study will also provide additional information on the long-term safety of ataluren.

Detailed Summary: This study is a Phase 3, multicenter, randomized, double-blind, placebo-controlled study to determine the efficacy and safety of ataluren 10, 10, 20 mg/kg in patients with nonsense-mutation (nm) dystrophinopathy. Patients will be randomized in a 1:1 ratio to ataluren 10-, 10-, 20-mg/kg dose level or placebo. Patients will receive study drug TID at morning, midday, and evening. It is planned that 220 patients will be enrolled and patients will undergo 48 weeks of blinded treatment prior to the final analysis. Study assessments will be performed at clinic visits every 8 weeks. It is anticipated that an open-label extension study will be available to patients (who successfully complete the double-blind study) in countries where ataluren is not commercially available.
Sponsor: PTC Therapeutics

Current Primary Outcome: Changes in the distance walked during a 6-minute walk test [ Time Frame: Baseline and 48 weeks ]

Original Primary Outcome: To determine the effect of ataluren on ambulation in patients with nonsense mutation DMD (as assessed by changes in the distance walked during a 6-minute walk test) [ Time Frame: Baseline and 48 weeks ]

Current Secondary Outcome:

  • Physical function [ Time Frame: Baseline and 48 weeks ]
    North Star Ambulatory Assessment and Timed Function Testing
  • Patient and/or parent-reported activities of daily living and disease symptoms [ Time Frame: Baseline and 48 weeks ]
  • Quality of Life [ Time Frame: Baseline and 48 weeks ]
  • Safety [ Time Frame: Baseline and 48 weeks ]
    Safety profile characterized by type, frequency, severity, timing, and relationship to study drug of any adverse events, or of abnormalities of laboratory tests, vital signs, physical examinations, or ECGs
  • Ataluren blood levels [ Time Frame: Baseline and 48 weeks ]
  • Compliance [ Time Frame: Baseline and 48 weeks ]


Original Secondary Outcome: Same as current

Information By: PTC Therapeutics

Dates:
Date Received: March 26, 2013
Date Started: March 2013
Date Completion:
Last Updated: May 15, 2017
Last Verified: May 2017