In vitro modulator responsiveness of 655 CFTR variants found in people with cystic fibrosis.
Hermann BihlerAndrey SivachenkoLinda MillenPriyanka BhattAmita Thakerar PatelJustin ChinViolaine BaileyIsaac MusisiAndré LaPanNormand E AllaireJoshua ConteNoah R SimonAmalia S MagaretKaren S RaraighGarry R CuttingWilliam R SkachRobert J BridgesPhilip J ThomasMartin MensePublished in: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society (2024)
transport activity by ≥10 % of normal CFTR function, which is suggestive of clinical benefit. ELX/TEZ/IVA increased CFTR function by ≥10 percentage points for an additional 140 unapproved variants with ≥10 % but <50 % of normal CFTR function at baseline. These findings significantly expand the number of rare CFTR variants for which ELX/TEZ/IVA treatment should result in clinical benefit.