Clinical efficacy of CFTR modulator therapy in people with cystic fibrosis carrying the I1234V mutation

CFTR modulators (CFTRm) have revolutionized the world of many people with cystic fibrosis (pwCF), but not for all. The most common mutation, the F508del mutation, leads to a processing and trafficking defect resulting in reduced functioning and quantity of the CFTR on the cell membrane. Subjects homozygous for the F508del mutation are defined as having minimal function of the CFTR protein, and tend to present with more severe phenotype. In the heterozygous states with a residual function mutation, subjects tend to have milder phenotype [1].

Source: Journal of Cystic Fibrosis - March 4, 2024 Category: Respiratory Medicine Authors: Bat El Bar Aluma, Joel Reiter, Ori Efrati, Yael Bezalel, Shlomit Keler, Moshe Ashkenazi, Adi Dagan, Yael Buchnik, Ido Sadras, Malena Cohen-Cymberknoh Tags: Original Article Source Type: research