Clinical characteristics and outcomes of people with cystic fibrosis with homozygous minimal function genotypes compared to those with F508del/minimal function genotypes.

Abstract excerpt

This observational, retrospective study compared clinical characteristics and outcomes in people with cystic fibrosis (pwCF) homozygous for minimal function mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (MF/MF), who are not expected to benefit from CFTR modulators, to pwCF with F508del (F)/MF genotypes before the FDA approval of elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA). US...

Topics

• Humans
• Cystic Fibrosis
• Cystic Fibrosis Transmembrane Conductance Regulator
• Genotype
• Female
• Retrospective Studies