PTC Therapeutics Withdraws FDA Resubmission for DMD

Rare Daily Staff

PTC Therapeutics said it has withdrawn the new drug application resubmission for Translarna (ataluren) for the treatment of nonsense mutation Duchenne muscular dystrophy following feedback from the U.S. Food and Drug Administration on the application review.

“FDA shared that, based on its review to date, the data in the NDA submission are unlikely to meet the agency’s threshold of substantial evidence of effectiveness to support approval of Translarna. We have therefore made the decision to withdraw the NDA submission,” said Matthew Klein, CEO of PTC Therapeutics. “We have worked tirelessly for more than two decades to develop a safe and effective therapy for boys and young men affected by nonsense mutation DMD in the U.S., and we are disappointed that FDA approval cannot be achieved.”

Duchenne is a rare and fatal genetic disorder that results in progressive muscle weakness from early childhood and leads to premature death, typically in the mid-20s, due to heart and respiratory failure. It is caused by the lack of functional dystrophin protein, which is essential for the structural stability of all muscles, including skeletal, diaphragm, and heart muscles. Patients with Duchenne can lose the ability to walk (loss of ambulation) as early as age 10, followed by loss of arm function. They subsequently experience life-threatening lung complications that may require ventilation support, as well as heart complications, in their late teens and 20s.

Translarna is a protein restoration therapy designed to enable the formation of a functioning protein in patients with genetic disorders caused by a nonsense mutation. A nonsense mutation is an alteration in the genetic code that prematurely halts the synthesis of an essential protein. The resulting disorder depends on which protein cannot be fully expressed and is therefore nonfunctional, such as dystrophin in Duchenne.

Photo: Matthew Klein, CEO of PTC Therapeutics