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PTC124 is a small molecule drug that is being investigated initially as a treatment for cystic fibrosis and Duchenne muscular dystrophy, with the potential to treat a number of other genetic disorders. In preclinical studies, PTC124 exhibited substantial oral bioavailability, demonstrated significant activity, and was well tolerated at dose levels much higher than those required to show activity.PTC124 is a novel, orally administered drug that targets nonsense mutations. Nonsense mutations are single-point alterations in the DNA that prematurely halt the translation process so that a functional protein is not produced. PTC124 has demonstrated the ability to restore full-length functional protein in genetic disease models harboring nonsense mutations. Approximately 15% of the cases of Duchenne muscular dystrophy and 10% of the cases of cystic fibrosis are due to nonsense mutations. PTC has catalogued over 1,800 distinct genetic disorders where nonsense mutations are the cause of the disease in an appreciable percentage of patients.