Clinical Trial: Phase 2b Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD)

Study Status: Terminated
Recruit Status: Terminated
Study Type: Interventional

Official Title: A Phase 2b Extension Study of Ataluren (PTC124) in Subjects With Nonsense-Mutation-Mediated Duchenne and Becker Muscular Dystrophy

Brief Summary: Duchenne/Becker muscular dystrophy (DMD/BMD) is a genetic disorder that 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 during childhood and teenage years. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of DMD/BMD in approximately 10-15% of boys with the disease. Ataluren (PTC124) is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. This study is a Phase 2b extension trial that will evaluate the long-term safety of ataluren (PTC124) in boys with nonsense mutation DMD/BMD, as determined by adverse events and laboratory abnormalities. The study will also assess changes in walking, muscle function, and other important clinical and laboratory measures.

Detailed Summary: This Phase 2b, open-label, safety and efficacy study is anticipated to be performed at 37 sites in 11 countries. The study will enroll up to 174 boys with nonsense mutation DMD/BMD who participated in a previous Phase 2b study of ataluren (PTC124) (PTC124-GD-007-DMD, NCT00592553). Subjects will receive study drug 3 times per day (at breakfast, lunch, and dinner) for approximately 96 weeks (approximately 2 years). Study assessments will be performed at clinic visits during screening, every 6 weeks for 2 visits and then every 12 weeks until the end of the study. Additional safety laboratory testing, which may be performed at the investigational site or at an accredited local laboratory or clinic, is required 3 times during the course of the study.
Sponsor: PTC Therapeutics

Current Primary Outcome: Long-term safety of PTC124 in boys with nonsense-mutation mediated DMD/BMD, as determined by adverse events and laboratory abnormalities [ Time Frame: 2 years ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Ambulation [ Time Frame: 2 years ]
  • Proximal muscle function [ Time Frame: 2 years ]
  • Heart rate [ Time Frame: 2 years ]
  • Cognitive ability [ Time Frame: 2 years ]
  • Health Related Quality of life (HRQL) [ Time Frame: 2 years ]
  • Activities of daily living [ Time Frame: 2 years ]
  • Muscle fragility [ Time Frame: 2 years ]
  • Compliance with ataluren (PTC124) treatment [ Time Frame: 2 years ]
  • Ataluren (PTC124) pharmacokinetics [ Time Frame: 2 years ]


Original Secondary Outcome: Same as current

Information By: PTC Therapeutics

Dates:
Date Received: February 16, 2009
Date Started: January 2009
Date Completion:
Last Updated: May 30, 2017
Last Verified: May 2017