Article
Evaluation of the response to elexacaftor-tezacaftor-ivacaftor of the rare CFTR variants L383S, I507del, L1065P and R1066H in intestinal organoid-derived epithelial monolayers.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 May 2025
Conti Jessica, Angyal Dora, Kleinfelder Karina, Latorre Roberta Valeria, Calicchia Martina, Farinazzo Alessia, Rodella Luca, Tomba Francesco, Massella Arianna, Frulloni Luca, Taccetti Giovanni, Terlizzi Vito, Leung Anny, Groeneweg Tessa A, Bijvelds Marcel J C, Melotti Paola, Sorio Claudio
Abstract excerpt
INTRODUCTION: Cystic fibrosis (CF) is caused by mutation of the CFTR gene, encoding an epithelial anion channel. Here we evaluated the effect of the modulator combination elexacaftor-tezacaftor-ivacaftor (ETI) on the function of four rare, poorly characterized CFTR variants: L383S, I507del, L1065P and R1066H. METHODS: Intestinal organoids were obtained from subjects carrying the CFTR variants L383S, I507del,...
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