PTC Therapeutics, Inc., has announced that it received a “refuse to file” letter from the FDA regarding the company’s new drug application for ataluren (Translarna), an oral, first-in-class protein-restoration therapy for the treatment of patients with nonsense mutation Duchenne muscular dystrophy (nmDMD).
The FDA stated in its letter that the application was not sufficiently complete to permit a substantive review.
Ataluren is 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 is determined by which protein cannot be expressed in its entirety and is no longer functional, such as dystrophin in DMD.
Ataluren is licensed in the European Economic Area for the treatment of nmDMD in ambulatory patients 5 years of age and older. It is an investigational new drug in the U.S.
Primarily affecting males, DMD is a progressive muscle disorder caused by the lack of functional dystrophin protein. Dystrophin is critical to the structural stability of skeletal, diaphragm, and heart muscles. Patients with DMD lose the ability to walk as early as age 10 and experience life-threatening lung and heart complications in their late teens and twenties. It has been estimated that nonsense mutations account for approximately 13% of DMD cases, or approximately 2,000 patients in the U.S.
Source: PTC Therapeutics; February 23, 2016.