Tezacaftor-Ivacaftor in Residual-Function Heterozygotes with Cystic Fibrosis.

ABSTRACT:

Background

Cystic fibrosis is an autosomal recessive disease caused by mutations in the CFTR gene that lead to progressive respiratory decline. Some mutant CFTR proteins show residual function and respond to the CFTR potentiator ivacaftor in vitro, whereas ivacaftor alone does not restore activity to Phe508del mutant CFTR.

Methods

We conducted a randomized, double-blind, placebo-controlled, phase 3, crossover trial to evaluate the efficacy and safety of ivacaftor alone or in combination with tezacaftor, a CFTR corrector, in 248 patients 12 years of age or older who had cystic fibrosis and were heterozygous for the Phe508del mutation and a CFTR mutation associated with residual CFTR function. Patients were randomly assigned to one of six sequences, each involving two 8-week i

SUBMITTER: Rowe SM 

PROVIDER: S-EPMC6472479 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature