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

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

Official Title: A Phase 2b Efficacy and Safety Study of PTC124 in Subjects With Nonsense-Mutation-Mediated Duchenne Muscular Dystrophy 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. 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 trial that will evaluate the clinical benefit of PTC124 in boys with DMD/BMD due to a nonsense mutation. The main goals of the study are to understand whether PTC124 can improve walking, activity, muscle function, and strength and whether the drug can safely be given for a long period of time.

Detailed Summary: This study is a Phase 2b, multicenter, randomized, double-blind, placebo-controlled, dose-ranging, efficacy and safety study, designed to document the clinical benefit of PTC124 when administered as therapy of patients with DMD/BMD due to a nonsense mutation (premature stop codon) in the dystrophin gene. It is planned that ~165 boys who are at least 5 years of age and can walk at least 75 meters (80 yards) will be enrolled. Study subjects will be enrolled at sites in North America, Europe, Israel, and Australia. They will be randomized in a 1:1:1 ratio to either a higher dose of PTC124, a lower dose of PTC124, or placebo. Subjects will receive study drug 3 times per day (at breakfast, lunch, and dinner) for 48 weeks. Subjects will be evaluated at clinic visits every 6 weeks. Additional safety laboratory testing, which may be performed at the investigational site or at an accredited local laboratory or clinic, is required every 3 weeks for the first 24 weeks of the study. At the completion of blinded treatment, all compliant participants will be eligible to receive open-label PTC124 in a separate extension study.
Sponsor: PTC Therapeutics

Current Primary Outcome: To determine the effect of PTC124 on ambulation in subjects with nonsense-mutation-mediated DMD/BMD (as assessed by changes in the distance walked during a 6-minute walk test) [ Time Frame: 12 months ]

Original Primary Outcome: To determine the effect of PTC124 on ambulation in subjects with nonsense-mutation-mediated DMD/BMD [ Time Frame: 12 months ]

Current Secondary Outcome:

  • Activity in the community setting [ Time Frame: 12 months ]
  • Proximal muscle function [ Time Frame: 12 months ]
  • Muscle strength [ Time Frame: 12 months ]
  • Muscle fragility [ Time Frame: 12 months ]
  • Biceps muscle dystrophin expression [ Time Frame: 12 months ]
  • Quality of Life [ Time Frame: 12 months ]
  • Cognitive ability [ Time Frame: 12 months ]
  • Cardiac function [ Time Frame: 12 months ]
  • Frequency of accidental falls during ambulation [ Time Frame: 12 Months ]
  • Treatment satisfaction [ Time Frame: 12 Months ]
  • Safety [ Time Frame: 12 months ]
  • Compliance with treatment [ Time Frame: 12 months ]
  • PTC124 pharmacokinetics [ Time Frame: 12 months ]


Original Secondary Outcome: Same as current

Information By: PTC Therapeutics

Dates:
Date Received: January 1, 2008
Date Started: February 2008
Date Completion:
Last Updated: September 6, 2013
Last Verified: September 2013