Shteinberg M, Haq IJ, Polineni D, Davies JC (2021) Cystic fibrosis. Lancet 397:2195–2211

Article  CAS  PubMed  Google Scholar 

Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC (1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245:1073–1080

Article  CAS  PubMed  Google Scholar 

Pereira SV, Ribeiro JD, Ribeiro AF, Bertuzzo CS, Marson FAL (2019) Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools. Sci Rep 9:6234

Article  PubMed  PubMed Central  Google Scholar 

Boyle MP, De Boeck K (2013) A new era in the treatment of cystic fibrosis: correction of the underlying CFTR defect. Lancet Respir Med 1:158–163

Article  PubMed  Google Scholar 

Rowe SM, Heltshe SL, Gonska T, Donaldson SH, Borowitz D, Gelfond D, Sagel SD, Khan U, Mayer-Hamblett N, Van Dalfsen JM, Joseloff E, Ramsey BW, Network GIotCFFTD (2014) Clinical mechanism of the cystic fibrosis transmembrane conductance regulator potentiator ivacaftor in G551D-mediated cystic fibrosis. Am J Respir Crit Care Med 190:175–184

Article  CAS  PubMed  PubMed Central  Google Scholar 

Taylor-Cousar JL, Munck A, McKone EF, van der Ent CK, Moeller A, Simard C, Wang LT, Ingenito EP, McKee C, Lu Y, Lekstrom-Himes J, Elborn JS (2017) Tezacaftor-Ivacaftor in patients with cystic fibrosis homozygous for Phe508del. N Engl J Med 377:2013–2023

Article  CAS  PubMed  Google Scholar 

Wainwright CE, Elborn JS, Ramsey BW (2015) Lumacaftor-Ivacaftor in patients with cystic fibrosis homozygous for Phe508del CFTR. N Engl J Med 373:1783–1784

Article  PubMed  Google Scholar 

Uluer AZ, MacGregor G, Azevedo P, Indihar V, Keating C, Mall MA, McKone EF, Ramsey BW, Rowe SM, Rubenstein RC, Taylor-Cousar JL, Tullis E, Yonker LM, Chu C, Lam AP, Nair N, Sosnay PR, Tian S, Van Goor F, Viswanathan L, Waltz D, Wang LT, Xi Y, Billings J, Horsley A, Vx, Groups VXS (2023) Safety and efficacy of vanzacaftor-tezacaftor-deutivacaftor in adults with cystic fibrosis: randomised, double-blind, controlled, phase 2 trials. Lancet Respir Med 11:550–562

Article  CAS  PubMed  Google Scholar 

Heijerman HGM, McKone EF, Downey DG, Van Braeckel E, Rowe SM, Tullis E, Mall MA, Welter JJ, Ramsey BW, McKee CM, Marigowda G, Moskowitz SM, Waltz D, Sosnay PR, Simard C, Ahluwalia N, Xuan F, Zhang Y, Taylor-Cousar JL, McCoy KS, Group VXT (2019) Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial. Lancet 394:1940–1948

Article  CAS  PubMed  PubMed Central  Google Scholar 

Middleton PG, Mall MA, Drevinek P, Lands LC, McKone EF, Polineni D, Ramsey BW, Taylor-Cousar JL, Tullis E, Vermeulen F, Marigowda G, McKee CM, Moskowitz SM, Nair N, Savage J, Simard C, Tian S, Waltz D, Xuan F, Rowe SM, Jain R, Group VXS (2019) Elexacaftor-Tezacaftor-Ivacaftor for cystic fibrosis with a single Phe508del allele. N Engl J Med 381:1809–1819

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sutharsan S, McKone EF, Downey DG, Duckers J, MacGregor G, Tullis E, Van Braeckel E, Wainwright CE, Watson D, Ahluwalia N, Bruinsma BG, Harris C, Lam AP, Lou Y, Moskowitz SM, Tian S, Yuan J, Waltz D, Mall MA, Group VXS (2022) Efficacy and safety of elexacaftor plus tezacaftor plus ivacaftor versus tezacaftor plus ivacaftor in people with cystic fibrosis homozygous for F508del-CFTR: a 24-week, multicentre, randomised, double-blind, active-controlled, phase 3b trial. Lancet Respir Med 10:267–277

Article  CAS  PubMed  Google Scholar 

Taylor-Cousar JL, Mall MA, Ramsey BW, McKone EF, Tullis E, Marigowda G, McKee CM, Waltz D, Moskowitz SM, Savage J, Xuan F, Rowe SM (2019) Clinical development of triple-combination CFTR modulators for cystic fibrosis patients with one or two F508del alleles. ERJ Open Res. https://doi.org/10.1183/23120541.00082-2019

Article  PubMed  PubMed Central  Google Scholar 

Hutton B, Salanti G, Caldwell DM, Chaimani A, Schmid CH, Cameron C, Ioannidis JP, Straus S, Thorlund K, Jansen JP, Mulrow C, Catala-Lopez F, Gotzsche PC, Dickersin K, Boutron I, Altman DG, Moher D (2015) The PRISMA extension statement for reporting of systematic reviews incorporating network meta-analyses of health care interventions: checklist and explanations. Ann Intern Med 162:777–784

Article  PubMed  Google Scholar 

Schwarzer GCJ, Rücker G (2015) Meta-Analysis with R. Springer, Cham

Book  Google Scholar 

Nikolakopoulou A, Higgins JPT, Papakonstantinou T, Chaimani A, Del Giovane C, Egger M, Salanti G (2020) CINeMA: an approach for assessing confidence in the results of a network meta-analysis. PLoS Med 17:e1003082

Article  PubMed  PubMed Central  Google Scholar 

Barry PJ, Mall MA, Alvarez A, Colombo C, de Winter-de Groot KM, Fajac I, McBennett KA, McKone EF, Ramsey BW, Sutharsan S, Taylor-Cousar JL, Tullis E, Ahluwalia N, Jun LS, Moskowitz SM, Prieto-Centurion V, Tian S, Waltz D, Xuan F, Zhang Y, Rowe SM, Polineni D, Group VXS (2021) Triple therapy for cystic fibrosis Phe508del-gating and -residual function genotypes. N Engl J Med 385:815–825

Article  CAS  PubMed  PubMed Central  Google Scholar 

Boyle MP, Bell SC, Konstan MW, McColley SA, Rowe SM, Rietschel E, Huang X, Waltz D, Patel NR, Rodman D, Group VXS (2014) A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial. Lancet Respir Med 2:527–538

Article  CAS  PubMed  Google Scholar 

Keating C YL, Vermeulen F, Prais D, Linnemann R, Trimble A, Kotsimbos T, Mermis J, Braun A, O’Carroll M, Sutharsan S, Ramsey B, Mall M, Taylor-Cousar J, McKone E, Tullis E, Floreth T, Michelson P, Nair N, Yi B, Martin H, Ahluwalia N, Lam A, Horsley A., editor Vanzacaftor/tezacaftor/deutivacaftor in adolescents and adults with cystic fibrosis: results from two randomized, active-controlled phase 3 trials. J Cyst Fibros. 23S2 (2024) S1–S505. North American Cystic Fibrosis Conference (September 2024); 2024; Boston, Massachusetts: Journal of Cystic Fibrosis. 23S2 (2024) S1–S505.

Keating D, Marigowda G, Burr L, Daines C, Mall MA, McKone EF, Ramsey BW, Rowe SM, Sass LA, Tullis E, McKee CM, Moskowitz SM, Robertson S, Savage J, Simard C, Van Goor F, Waltz D, Xuan F, Young T, Taylor-Cousar JL, Group VXS (2018) VX-445-Tezacaftor-Ivacaftor in patients with cystic fibrosis and one or two Phe508del alleles. N Engl J Med 379:1612–1620

Article  CAS  PubMed  PubMed Central  Google Scholar 

Konstan MW, McKone EF, Moss RB, Marigowda G, Tian S, Waltz D, Huang X, Lubarsky B, Rubin J, Millar SJ, Pasta DJ, Mayer-Hamblett N, Goss CH, Morgan W, Sawicki GS (2017) Assessment of safety and efficacy of long-term treatment with combination lumacaftor and ivacaftor therapy in patients with cystic fibrosis homozygous for the F508del-CFTR mutation (PROGRESS): a phase 3, extension study. Lancet Respir Med 5:107–118

Article  CAS  PubMed  Google Scholar 

McKone EF, DiMango EA, Sutharsan S, Barto TL, Campbell D, Ahluwalia N, Higgins M, Owen CA, Tullis E (2021) A phase 3, randomized, double-blind, parallel-group study to evaluate tezacaftor/ivacaftor in people with cystic fibrosis heterozygous for F508del-CFTR and a gating mutation. J Cyst Fibros 20:234–242

Article  CAS  PubMed  Google Scholar 

Munck A, Kerem E, Ellemunter H, Campbell D, Wang LT, Ahluwalia N, Owen CA, Wainwright C (2020) Tezacaftor/ivacaftor in people with cystic fibrosis heterozygous for minimal function CFTR mutations. J Cyst Fibros 19:962–968

Article  CAS  PubMed  Google Scholar 

Rowe SM, McColley SA, Rietschel E, Li X, Bell SC, Konstan MW, Marigowda G, Waltz D, Boyle MP, Group VXS (2017) Lumacaftor/ivacaftor treatment of patients with cystic fibrosis heterozygous for F508del-CFTR. Ann Am Thorac Soc 14:213–219

Article  PubMed  PubMed Central  Google Scholar 

Fidler MC, Beusmans J, Panorchan P, Van Goor F (2017) Correlation of sweat chloride and percent predicted FEV(1) in cystic fibrosis patients treated with ivacaftor. J Cyst Fibros 16:41–44

Article  CAS  PubMed  Google Scholar 

McKone EF, Velentgas P, Swenson AJ, Goss CH (2015) Association of sweat chloride concentration at time of diagnosis and CFTR genotype with mortality and cystic fibrosis phenotype. J Cyst Fibros 14:580–586

Article  CAS  PubMed  Google Scholar 

Burgel PR, Sermet-Gaudelus I, Durieu I, Kanaan R, Macey J, Grenet D, Porzio M, Coolen-Allou N, Chiron R, Marguet C, Douvry B, Dufeu N, Danner-Boucher I, Foucaud P, Lemonnier L, Girodon E, Da Silva J, Martin C, French CFRNsg (2023) The French Compassionate Program of elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis with advanced lung disease and no F508del CFTR variant. Eur Respir J. https://doi.org/10.1183/13993003.02437-2022

Article  PubMed  Google Scholar 

McCoy KS, Blind J, Johnson T, Olson P, Raterman L, Bai S, Eisner M, Sheikh SI, Druhan S, Young C, Pasley K (2023) Clinical change 2 years from start of elexacaftor-tezacaftor-ivacaftor in severe cystic fibrosis. Pediatr Pulmonol 58:1178–1184

Article  PubMed  Google Scholar 

Dittrich AM, Sieber S, Naehrlich L, Burkhart M, Hafkemeyer S, Tummler B, Registry Working Group of the German CFR (2024) Use of elexacaftor/tezacaftor/ivacaftor leads to changes in detection frequencies of Staphylococcus aureus and Pseudomonas aeruginosa dependent on age and lung function in people with cystic fibrosis. Int J Infect Dis 139:124–131

Article  CAS