Ivacaftor in Omani children with cystic fibrosis caused by p.Ser549Arg CFTR mutation.

ABSTRACT:

Background

Cystic fibrosis (CF) is a multisystemic chronic disease caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein. These mutations are classified in to six classes. Ivacaftor is a CFTR potentiator which partially restores the CFTR function for class III mutations. In Oman, p.Ser549Arg (class III) is the most common mutation (65% of cases). Our study prospectively evaluated the tolerance and clinical efficacy of ivacaftor.

Methods

A prospective observational study was conducted at the Royal Hospital, Oman. All children aged 6-18 years who are followed and carry at least one copy of the p.Ser549Arg mutation were started on Ivacaftor and included in the study. Data collected included weight, height, forced expiratory volume in firs

SUBMITTER: Al Oraimi S 

PROVIDER: S-EPMC9152560 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature