Nonsense Mutation Dystrophinopathy and Ataluren Treatment Study

Rush University Medical Center is recruiting for the Phase 3 Efficacy and Safety Study of Ataluren (PTC124) in patients with nonsense mutation dystrophinopathy. This is an international study expecting to recruit 225 boys ages 7 to 16 with Duchenne muscular dystrophy (DMD) caused by a nonsense mutation. As of the end of September, Peter Heydemann, MD, has enrolled two boys with another three ready to start once they soon meet eligibility requirements.

DMD is a disabling and life-threatening disorder caused by defects in the gene for dystrophin, a protein that stabilizes muscle cell membranes. Until now, the only course of treatment involved corticosteroids, which merely slows progression. In previous studies, Ataluren earned a favorable safety profile and an earlier study showed that Ataluren can restore production of the missing dystrophin.

Recruitment remains open until the study is filled. For more information, please contact Susan Rohde at (312) 942-0079.

In order to participate you must meet the following criteria:

• Are a male between the ages of 7 to 16 with a nonsense mutation form of DMD and on a current regiment of corticosteroids.

This is a partial list of eligibility requirements.