Genzyme and PTC Therapeutics have entered an exclusive global collaboration to develop and commercialize PTC124, PTC's late-stage oral therapy for the treatment of genetic disorders due to nonsense mutations.
   
Under the terms of the agreement, PTC will commercialize the drug in the U.S. and Canada, and Genzyme will commercialize the treatment in all other countries. Genzyme will make an up-front payment of $100 million, plus potential milestone and royalty payments. PTC will be financially responsible for one ongoing and three additional trials of PTC124, which may potentially be applicable to hundreds of genetic diseases. PTC124 is currently being evaluated in a Phase IIb trial for Duchenne muscular dystrophy (DMD), and a Phase IIb trial in cystic fibrosis (CF) is expected to begin by the end of this year.
   
In the U.S., there are an estimated 10,000 DMD patients, approximately 13% of which have nonsense mutations. Of the more than 30,000 U.S. patients with CF, about 10% have nonsense mutations. The companies also plan to explore PTC124's potential to make a difference for patients with other types of severe and debilitating genetic diseases.