PTC124 is a novel, orally administered drug that targets nonsense mutations and is being investigated initially as a treatment for cystic fibrosis (CF) and Duchenne muscular dystrophy, with the potential to treat a number of other genetic disorders.
The primary endpoint of this phase II clinical 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.
“PTC124 is a new type of treatment, aimed at the root cause of the disease, and the progress we have been able to achieve is due to the dedication and support of multiple researchers, investigators, clinicians, and patient advocacy groups,” stated Dr Stuart Peltz, president and CEO of PTC.