New Drug PTC124: Potential Treatment for Cystic Fibrosis and Duchenne Muscular Dystrophy

A drug called PTC124 which may provide an effective treatment of a wide variety of genetic diseases such as cystic fibrosis and Duchenne muscular dystrophy is currently undergoing clinical trials. PTC124 does this by targeting not just one but a wide variety of genetic mutations, called "nonsense mutations", which cripple the production of certain proteins causing a wide variety of diseases.

Phase Two clincal trials for cystic fibrosis and Duchenne muscular dystrophy are ongoing, being conducted by the drug's manufaturer PTC Theraputics. So far both studies show a great deal of promise for the drug with little to no side effects.

PTC Therapuetics is conducting two comparable Phase 2 clinical trials for the treatment of

Human trials were conducted on patients at three clinical sites in the United States: Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; and the University of Utah, Salt Lake City, Utah. In the study, patients received 28 days of PTC124 treatment at one of two dose levels. All patients were boys with a mutation in the dystrophin gene, substantially elevated serum creatine kinase, and symptoms associated with

Of course the interim results do not necessarily predict favorable outcomes from these ongoing CF or DMD trials or any future trial. Nevertheless PTC124 has been put on the fast track for regulatory approval by the FDA for the treatment of

Researchers suggest that PTC124 has the potential to treat thousands of other genetically caused diseases, including spinal muscular atrophy, hemophilia, lysosomal storage disorders, retinitis pigmentosa, familial hypercholesterolemia and some forms of cancer. Should follow up trials for PTC124 prove the promise of the drug, it could be available for use in treating as early as