Ex vivo model predicted in vivo efficacy of CFTR modulator therapy in a child with rare genotype.

ABSTRACT:

Background

New drugs that target the basic defect in cystic fibrosis (CF) patients may now be used in a large number of patients carrying responsive mutations. Nevertheless, further research is needed to extend the benefit of these treatments to patients with rare mutations that are still uncharacterized in vitro and that are not included in clinical trials. For this purpose, ex vivo models are necessary to preliminary assessing the effect of CFTR modulators in these cases.

Method

We report the clinical effectiveness of lumacaftor/ivacaftor therapy prescribed to a CF child with a rare genetic profile (p.Phe508del/p.Gly970Asp) after testing the drug on nasal epithelial cells. We observed a significant drop of the sweat chloride value, as of the lung clearance index. A longer

SUBMITTER: Terlizzi V 

PROVIDER: S-EPMC8123755 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature