PTC Therapeutics has begun a Phase II study of PTC124 at Israel's Hadassah University Hospital in patients with cystic fibrosis (CF) due to a nonsense mutation. This study is being conducted in parallel with a similar U.S.-based Phase II clinical trial in CF, which recently began recruiting patients.
PTC124 is an orally delivered drug for the treatment of genetic disorders due to nonsense mutations. Genetic disorders occur as a consequence of mutations in an individual's DNA. Nonsense mutations are single-point alterations in the genetic code that prematurely halt the translation process, producing a shortened, non-functional protein. PTC124 allows the cellular machinery to bypass the nonsense mutation and continue the translation process, restoring the production of full-length, functional proteins.