PTC124 represents a first-in-class, orally delivered investigational new drug 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 allows the cellular machinery to bypass the nonsense mutation and continue the translation process, restoring the production of full-length, functional proteins.
Single and multiple-dose phase I studies involving healthy volunteers have been recently completed, and PTC is working with investigators and the FDA to finalize plans for phase II studies in cystic fibrosis (CF) and Duchenne muscular dystrophy (DMD).
“We continue to make excellent progress in this program and believe that PTC124 has the potential to provide a treatment for CF patients who have the disease due to a nonsense mutation,” said Dr Stuart Peltz, president and CEO of PTC. “We were granted orphan drug designation in CF and DMD recently, and fast track designation is an important added component to the development of PTC124 for patients who are in desperate need of new treatment options.”