FDA Approves Kalydeco for Cystic Fibrosis Patients with R117H Mutation

FDA Approves Kalydeco for Cystic Fibrosis Patients with R117H Mutation

kalydeco for CF mutationsThe U.S. Food and Drug Administration (FDA) has approved the prescription of Kalydeco (ivacaftor) for the treatment of cystic fibrosis (CF) patients 6 years and older with the R117H mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The administration has accepted the supplemental new drug application (sNDA) filled by the developer of Kalydeco, Vertex Pharmaceuticals, allowing the use of the drug by a new group of CF patients.

The approval of Kalydeco as a therapy for CF patients with the R117H mutation was based on a positive recommendation made by the FDA’s Pulmonary-Allergy Drugs Advisory Committee (PADAC), in addition to data presented by Vertex regarding a phase 3 study that included 69 CF patients who were older than six years old and 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 the Executive Vice President and Chief Medical Officer at Vertex, Jeffrey Chodakewitz, M.D. “We are now one step closer to reaching our goal of providing new medicines to many more people living with cystic fibrosis.”

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The life-threatening disease is provoked by a defective or missing CFTR protein due to mutations of the CFTR gene. The R117H mutation, which affects about 500 people in the U.S., occurs when the CFTR protein is able to reach the cell surface, but does not function correctly.

Kalydeco is currently the only medication to target the underlying causes of the disease in patients with specific mutations of the CFTR gene. The drug is an orally-administered CFTR potentiator, created to keep CFTR proteins at the cell surface open more often in order to enhance the salt and water transportation through the cell membrane and improve the hydration and clearance of mucus from the airways.

With the decision, the drug is currently approved in the United States as treatment for CF patients with the R117H, G551D, G178R, S549N, S549R, G551S, G1244E, S1251N, S1255P or G1349D mutations. That means that the drug may be able to help treat more than 3,100 people within North America, Europe and Australia in total. However, the disease still affects about 75,000 people in these regions, which leads to a median survival age range between 34 and 47 years.

The medication is already approved in the U.S., Europe, Canada, Switzerland, Australia and New Zealand as a treatment for CF patients who are older than six, with specific genetic mutations in the CFTR gene. Even though the use of Kalydeco in patients with the R117H mutation has only been approved in the U.S., Vertex has also submitted a Marketing Authorization Application (MAA) variation to the European Medicines Agency (EMA), last July.

In addition, the company has recently submitted a New Drug Application (NDA) to the FDA and a MAA to the EMA for a fully co-formulated combination of lumacaftor (400mg q12h) and ivacaftor (250mg q12h) for CF patients older than 12 who have two copies of the F508del mutation in the CFTR gene.

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