Effectiveness of ivacaftor in cystic fibrosis patients with non-G551D gating mutations.

ABSTRACT:

Background

The cystic fibrosis transmembrane conductance regulator (CFTR) potentiator ivacaftor is approved for patients with CF with gating and residual function CFTR mutations. We report the results of an observational study investigating its effects in CF patients with non-G551D gating mutations.

Methods

Patients with non-G551D gating mutations were recruited to an open-label study evaluating ivacaftor. Primary outcomes included: lung function, sweat chloride, weight gain, and quality of life scores.

Results

Twenty-one subjects were enrolled and completed 6 months follow-up on ivacaftor; mean age was 25.6 years with 52% <18. Baseline ppFEV₁ was 68% and mean sweat chloride 89.6 mEq/L. Participants experienced significant improvements in ppFEV₁

SUBMITTER: Guimbellot J 

PROVIDER: S-EPMC6196121 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature