Whole-blood transcriptomic responses to lumacaftor/ivacaftor therapy in cystic fibrosis.

ABSTRACT:

Background

Cystic fibrosis (CF) remains without a definitive cure. Novel therapeutics targeting the causative defect in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are in clinical use. Lumacaftor/ivacaftor is a CFTR modulator approved for patients homozygous for the CFTR variant p.Phe508del, but there are wide variations in treatment responses preventing prediction of patient responses. We aimed to determine changes in gene expression related to treatment initiation and response.

Methods

Whole-blood transcriptomics was performed using RNA-Seq in 20 patients with CF pre- and 6 months post-lumacaftor/ivacaftor (drug) initiation and 20 non-CF healthy controls. Correlation of gene expression with clinical variables was performed by stratification via clin

SUBMITTER: Kopp BT 

PROVIDER: S-EPMC7048645 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature