PTC Therapeutics has launched a Phase II study of PTC124 in patients with cystic fibrosis (CF) due to a nonsense mutation. PTC124 is a novel, orally administered drug that targets nonsense mutations and is being investigated initially as a treatment for CF and Duchenne muscular dystrophy, with the potential to treat a number of other genetic disorders.
The study is enrolling patients who have CF due to the presence of a nonsense mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The primary endpoint of the study is assessment of nasal transepithelial potential difference as a measure of CFTR function in response to treatment with PTC124. Secondary assessments of the induction of CFTR cellular protein, pulmonary function, safety, pharmacokinetics, and compliance will also be performed.