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PTC124

PTC124 is an experimental drug, orally administered, that is currently in development for the treatment of genetic disorders due to nonsense mutations. Nonsense mutations are single-point alterations in the genetic code that prematurely halt the translation process, producing a shortened, non-functional protein.

PTC124 has demonstrated some activity in preclinical genetic disease models harboring nonsense mutations, allowing the restoration of the production of full-length, functional proteins.

In Phase 1 clinical trials, PTC124 was generally well tolerated, achieved target plasma concentrations that have been associated with activity in preclinical models, and did not induce ribosomal readthrough of normal stop codons. Pharmacokinetic modeling of the Phase 1 results allowed development of a dosing regimen for the Phase 2 studies in cystic fibrosis (CF) and Duchenne muscular dystrophy (Duchenne).

It is estimated that 10% of CF cases, and 13% of Duchenne cases, are due to nonsense mutations. PTC believes that PTC124 is potentially applicable to a broad range of other genetic disorders in which a nonsense mutation is the cause of the disease. The FDA has granted fast-track designations and orphan drug designations to PTC124 for the treatment of CF and Duchenne due to nonsense mutations.

PTC124 has also been granted orphan drug status for the treatment of Duchenne and CF by the Committee for Orphan Medicinal Products (COMP) of the European Medicines Agency (EMEA). PTC124’s development is supported by grants from Parent Project Muscular Dystrophy (PPMD), the Muscular Dystrophy Association (MDA), Cystic Fibrosis Foundation Therapeutics, Inc. (CFFT), FDA’s Office of Orphan Products Development (OOPD), and by General Clinical Research Center grants from the National Center for Research Resources (NCRR).

PTC124 has finished Phase 2a studies (click here to view results). Phase 2b is scheduled to begin in early 2008.

FAQ on PTC 124 (English)
FAQ on PTC 124 (Spanish)

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