U.S. FDA Approves KALYDECO™ for Use in Eight Additional CF Mutations


  • KALYDECO is the first medicine to treat the underlying cause of CF for people with specific mutations in the CFTR gene
  • KALYDECO facilitates increased chloride transport by potentiating the channel-open probability (or gating) of the CFTR protein
  • The eight additional mutations are present in approximately 150 people ages six and older in the United States

BOSTON –(BUSINESS WIRE)– Vertex Pharmaceuticals Incorporated (Nasdaq: VRTX) today announced the U.S. Food and Drug Administration (FDA) approved a supplemental New Drug Application (sNDA) for KALYDECOTM (ivacaftor) for people with cystic fibrosis (CF) ages 6 and older who have one of eight additional mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. KALYDECO was first approved in January 2012 for people with CF ages 6 and older who have at least one copy of the G551D mutation. With the approval of the sNDA, KALYDECO is now approved for use in people with CF with the following nine mutations: G551D, G178R, S549N, S549R, G551S, G1244E, S1251N, S1255P and G1349D. In the United States, approximately 150 people ages 6 and older have one of the additional eight mutations for which KALYDECO is now approved.

CF is caused by defective or missing CFTR proteins that result from mutations in the CFTR gene. The defective function or absence of CFTR proteins in people with CF results in poor flow of salt and water into and out of the cell in a number of organs, including the lungs. Ivacaftor facilitates increased chloride transport by potentiating the channel-open probability (or gating) of the CFTR protein.

“We believe that KALYDECO has the potential to help more people with CF, and today’s approval is an important step toward that goal,” said Robert Kauffman, M.D. Ph.D., Senior Vice President and Co-Chief Medical Officer at Vertex. “As we progress over the coming year, we look forward to data from multiple other ongoing studies that are designed to evaluate whether additional people with CF may benefit from KALYDECO.”

KALYDECO was granted Breakthrough Therapy designation by the U.S. FDA in late 2012. The sNDA approval is based on previously announced data from a Phase 3, two-part, randomized, double-blind, placebo-controlled, cross-over study of 39 people with CF who had one of the following mutations: G178R, S549N, S549R, G551S, G1244E, S1251N, S1255P, G1349D or G970R. The study showed statistically significant improvements in lung function (FEV1) for people in the overall study population who received ivacaftor, and the safety profile was similar to prior Phase 3 studies in people with the G551D mutation. Based on data from four patients with the G970R mutation enrolled in the study, the efficacy of KALYDECO in patients with the G970R mutation could not be established to support approval in the U.S. Vertex estimates that approximately 10 people with CF have the G970R mutation worldwide, including two people in the United States.

Data from the study noted above were also used to support regulatory submissions in Europe, Canada and Australia for approval of KALYDECO in additional people with CF ages 6 and older. In Europe and Australia, approximately 250 people with CF have these additional mutations.