PTC Therapeutics, Inc. (PTC) today announced it is expanding the development of ataluren, an investigational new drug, to a third indication with the initiation of a Phase 2a clinical trial in nonsense mutation hemophilia A (nmHA) and hemophilia B (nmHB). Hemophilia is a rare and debilitating genetic disorder that causes loss of blot clotting proteins and can lead to serious, recurrent bleeding episodes. It is estimated that nonsense mutations account for about 10 to 30 percent of all hemophilia cases.
The purpose of this multi-center, open-label trial is to evaluate the activity, safety, and pharmacokinetics of ataluren in approximately 24 adult male patients with nmHA or nmHB. The primary goal of the trial, which consists of two 14-day treatments at two different dose levels, is to determine if ataluren can safely increase FVIII and FIX activity levels.
"We are excited about the initiation of this proof-of-concept trial of ataluren in patients with nonsense mutation hemophilia, a more severe form of the disorder with a great need for alternative treatment options," said Langdon Miller, M.D., Chief Medical Officer of PTC Therapeutics. "The data from this study will add to the growing body of data that we are compiling with our ongoing studies in Duchenne/Becker muscular dystrophy and cystic fibrosis."