CFTR modulators response of S737F and T465N CFTR variants on patient-derived rectal organoids.

Karina KleinfelderPaola MelottiAnca Manuela HristodorCristina FevolaGiovanni TaccettiVito TerlizziClaudio Sorio

Published in: Orphanet journal of rare diseases (2024)

Our study confirms the presence of a residual function of the S737F variant and its limited response to CFTR modulators while predicting for the first time the potential clinical benefit of Trikafta® for patients carrying the rare T465N variant.

Keyphrases

cystic fibrosis
end stage renal disease
small molecule
chronic kidney disease
newly diagnosed
ejection fraction
peritoneal dialysis
prognostic factors
rectal cancer
copy number
dna methylation
human health