CFTR modulator | Common responsive mutations | Effects in patients with CF |
Ivacaftor | G551D, G178R, S549N, S549R, G551S, G1244E, S1251N, S1255P, G1349D, R117H | Increase in lung function (FEV1%), reduction in frequency of pulmonary exacerbations, increase in weight and respiratory-related quality of life, decrease in days with intravenous antimicrobial treatment |
Lumacaftor/ivacaftor | Phe508del-homozygous patients | Increase in lung function (FEV1%), reduction in hospitalisations, reduction in intravenous antibiotics use and pulmonary exacerbations, increase in BMI, nutritional status and quality of life |
Tezacaftor/ivacaftor | Phe508del-homozygous or Phe508del-heterozygous with a residual function mutation in trans, F508del heterozygotes with E56K, P67L, R74W, D110E, D110H, R117C, E193K, L206W, 711+3A→G, R347H, R352Q, A455E, D579G, E831X, 2789+5G→A, S945L, S977F, F1052V, K1060T, A1067T, R1070W, F1074L, 3272-26A→G, D1152H, D1270N, 3849+10kbC→T | Improved lung function, reduced pulmonary exacerbations, weight gain, improvement in quality of life |
Elexacaftor/tezacaftor/ivacaftor | Phe508del-homozygous, Phe508del-heterozygous patients with a minimal function mutation in trans, Phe508del-any other mutation | Improved lung function gain (10–14%), reduced pulmonary exacerbations (by ∼63%), decrease in sweat chloride, improvement in quality of life |
FEV1: forced expiratory volume in 1 s; BMI: body mass index. Information from [26, 27].