Article
Corrector therapies (with or without potentiators) for people with cystic fibrosis with class II CFTR gene variants (most commonly F508del).
The Cochrane database of systematic reviews - 20 Nov 2023
Heneghan Matthew, Southern Kevin W, Murphy Jared, Sinha Ian P, Nevitt Sarah J
Abstract excerpt
BACKGROUND: Cystic fibrosis (CF) is a common life-shortening genetic condition caused by a variant in the cystic fibrosis transmembrane conductance regulator (CFTR) protein. A class II CFTR variant F508del is the commonest CF-causing variant (found in up to 90% of people with CF (pwCF)). The F508del variant lacks meaningful CFTR function - faulty protein is degraded before reaching the cell membrane, where it...
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