Phase 2a Extension Study of Ataluren (PTC124) in Duchenne Muscular Dystrophy (DMD)
Status:
Terminated
Trial end date:
2010-05-17
Target enrollment:
Participant gender:
Summary
Duchenne muscular dystrophy (DMD) 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 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.
This study is a Phase 2a extension trial that will evaluate the long-term safety of ataluren
in boys with nonsense mutation DMD, as determined by adverse events and laboratory
abnormalities. The study will also assess changes in walking, muscle function, strength, and
other important clinical and laboratory measures.