Phase 2B Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD)
Status:
Terminated
Trial end date:
2010-05-24
Target enrollment:
Participant gender:
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.