Duchenne muscular dystrophy (DMD) is a progressive muscle disorder that has been linked to a nonsense mutation in the dystrophin gene. It is estimated that 15% of the cases of DMD are due to such a mutation.
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-dose and multiple-dose phase I studies involving healthy volunteers have recently been completed and PTC is working with investigators and the FDA to finalize plans for phase II studies in DMD and cystic fibrosis (CF). The FDA has granted PTC124 fast track designation for the treatment of CF and orphan drug designations for the treatment of CF and DMD due to nonsense mutations.
The Muscular Dystrophy Association (MDA) has praised the work of PTC and views the donation as a pledge of their commitment to the research.
PTC said the award as fundamental to continuing the development of PTC124, a drug that has already received funding from Cystic Fibrosis Foundation Therapeutics.