PTC124 is a novel, orally administered drug that targets nonsense mutations and is being investigated initially as a treatment for Duchenne muscular dystrophy (DMD) and cystic fibrosis (CF), with the potential to treat a number of other genetic disorders caused by nonsense mutations.
The primary endpoint of this phase II multi-site, open-label, dose-ranging clinical study is assessment of muscle dystrophin expression in response to treatment with PTC124. Other assessments include the presence of dystrophin mRNA and dystrophin-related proteins, muscle function, compliance with treatment, safety, and pharmacokinetics.
“Building on the positive preclinical data with PTC124 that Doctors Lee Sweeney and Elisabeth Barton have generated in their laboratories at the University of Pennsylvania, we have worked closely with scientists and investigators to design a study that can examine whether the encouraging preclinical findings with PTC124 translate to the clinical setting,” said Dr Langdon Miller, chief medical officer at PTC.