FDA Approves New Treatment for Cystic Fibrosis with Genetic Mutation

A supplemental new drug application for the use of Vertex Pharmaceuticals' ivacaftor in cystic fibrosis patients aged 6 years and older who have the R117H mutation in the cystic fibrosis transmembrane conductance regulator gene has been approved by the FDA.

A supplemental new drug application for the use of Vertex Pharmaceuticals’ ivacaftor (Kalydeco) in cystic fibrosis (CF) patients aged 6 years and older who have the R117H mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene has been approved by the FDA.

This approval follows a recommendation by the FDA’s Pulmonary-Allergy Drugs Advisory Committee to allow the use of the medication in CF patients with this mutation. The FDA based its approval on previously announced data from a phase 3 study of Kalydec, which enrolled 69 CF patients aged 6 years and older who had the R117H mutation.

"Today's approval marks an important milestone for people with the R117H mutation who will now have a medicine to treat the underlying cause of their disease for the first time," said Jeffrey Chodakewitz, MD, executive vice president and chief medical officer at Vertex, in a press release. "We are now one step closer to reaching our goal of providing new medicines to many more people living with cystic fibrosis."

Kalydeco is a CFTR potentiator indicated for the treatment of CF in patients aged 6 years and older who have one of several mutations in the CFTR gene. With this latest FDA nod, Kalydeco is now approved for use in the United States in CF patients aged 6 years and older who have one of the following 10 mutations: R117H, G551D, G178R, S549N, S549R, G551S, G1244E, S1251N, S1255P or G1349D.

CF is a rare genetic disorder in which mutations in the CFTR gene result in a defective or missing CFTR protein. In patients with the R117H mutation, the CFTR protein reaches the cell surface but does not function properly. Approximately 500 individuals with CF who are aged 6 years and older have this mutation in the United States. CF affects approximately 75,000 people in North America, Europe, and Australia.