FDA Approves Ivacaftor for Five Splice Mutations

The U.S. Food and Drug Administration (FDA) approved the use of ivacaftor (Kalydeco®) today for people ages 2 and older with cystic fibrosis who have at least one of the following five splice mutations: 3849+10kbC->T, 2789+5G->A, 3272-26A->G, 711+3A->G, E831X.

Aug. 1, 2017 | 2 min read

Splice mutations are abnormalities in the CFTR DNA code that result in either lower amounts of protein or a slightly altered (and therefore ineffective) CFTR protein. As a result, there is a significant reduction in the amount of CFTR protein that reaches the cell surface. In the U.S. there are more than 600 people ages 2 and older with one of these five mutations in the CFTR gene who are now eligible for treatment with ivacaftor (Kalydeco®).

Ivacaftor is a type of CFTR modulator called a potentiator that increases activity of the CFTR protein at the cell surface and has been shown in studies to improve lung function. The drug was developed by Vertex Pharmaceuticals Inc. with significant clinical, scientific, and financial support from the Cystic Fibrosis Foundation.

For additional information regarding today's news, please see the announcements from Vertex.

About Cystic Fibrosis Mutations

People with CF have two mutated copies of the CFTR gene -- one inherited from each parent. There are more than 1,700 mutations in the CFTR gene that cause CF.  

With today's announcement by the FDA, ivacaftor is approved to treat the following mutations:

E56K G178R S549R K1060T G1244E 3272-26A->G
P67L E193K G551D A1067T S1251N 711+3A->G
R74W L206W G551S G1069R S1255P E831X
D110E R347H D579G R1070Q D1270N  
D110H R352Q S945L R1070W G1349D  
R117C A455E S977F F1074L 3849+10kbC->T  
R117H S549N F1052V D1152H 2789+5G->A  
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