Study Status: Enrolling by invitation
Recruit Status: Enrolling by invitation
Study Type: Interventional
Official Title: A Phase 3 Extension 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 extension study is to obtain long term safety of ataluren in boys with nonsense mutation dystrophinopathy as determined by adverse events and laboratory abnormalities. The study will also assess changes in physical function, pulmonary function and other important clinical and laboratory measures.