Conditions: Muscular Dystrophy, Duchenne Muscular Dystrophies Muscular Disorders, Atrophic Muscular Diseases Musculoskeletal Diseases Neuromuscular Diseases Nervous System Diseases Genetic Diseases, X-Linked Genetic Diseases, Inborn
Keywords: Duchenne muscular dystrophy Dystrophinopathy Nonsense mutation Premature stop codon Becker muscular dystrophy DMD/BMD PTC124 Ataluren
Allocation: RANDOMIZED | Intervention model: PARALLEL
Enrollment: 230
Healthy volunteers: no

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 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. 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 description:
This is a Phase 3, multicenter, randomized, double-blind, placebo-controlled study to determine the efficacy and safety of ataluren in participants with nmDMD.

Arms:
arm 1: Participants will receive placebo matching to ataluren orally 3 times a day (TID) at morning, midday, and evening for 48 weeks. arm 2: Participants will receive ataluren suspension orally TID, 10 milligrams/kilogram (mg/kg) at morning, 10 mg/kg at midday, and 20 mg/kg at evening (total daily dose 40 mg/kg) 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 arm. intervention 2: Placebo will be administered as per the schedule specified in the arm.

Protocol document: