Conditions: Duchenne Muscular Dystrophy Becker Muscular Dystrophy
Keywords: Duchenne muscular dystrophy Becker muscular dystrophy Nonsense mutation Premature stop codon DMD/BMD PTC124
Allocation: RANDOMIZED | Intervention model: PARALLEL
Enrollment: 174
Healthy volunteers: no

Brief summary:
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 13 percent (%) of boys with the disease. Ataluren 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 ataluren in boys with DMD/BMD due to a nonsense mutation. The main goals of the study are to understand whether ataluren can improve walking, activity, muscle function, and strength and whether the drug can safely be given for a long period of time.

Detailed description:
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 ataluren when administered as therapy of patients with DMD/BMD due to a nonsense mutation (premature stop codon) in the dystrophin gene.

Arms:
arm 1: Participants will receive ataluren suspension orally 3 times a day (TID), 20 milligrams/kilogram (mg/kg) at morning, 20 mg/kg at midday, and 40 mg/kg at evening (total daily dose 80 mg/kg) for 48 weeks. arm 2: Participants will receive ataluren suspension orally TID, 10 mg/kg at morning, 10 mg/kg at midday, and 20 mg/kg at evening (total daily dose 40 mg/kg) for 48 weeks. arm 3: Participants will receive placebo matched to ataluren orally TID at morning, midday, and evening for 48 weeks.

Interventions: intervention 1: Ataluren intervention 2: Placebo
Intervention descriptions: intervention 1: Ataluren will be administered as per the dose and schedule specified in the respective arms. intervention 2: Placebo matching to ataluren will be administered as the schedule specified in the respective arm.

Protocol document: