References
[1] Wainwright CE, Elborn JS, Ramsey BW, Marigowda G, Huang X,
Cipolli M, Colombo C, Davies JC, De Boeck K, Flume PA, Konstan MW,
McColley SA, McCoy K, McKone EF, Munck A, Ratjen F, Rowe SM, Waltz D,
Boyle MP; TRAFFIC Study Group; TRANSPORT Study Group.
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for
Phe508del CFTR. N Engl J Med 2015;373(3):220-31. doi:
10.1056/NEJMoa1409547.
[2] 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. 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.
2017;5(2):107-118. doi: 10.1016/S2213-2600(16)30427-1.
[3] Bell SC, Mall MA, Gutierrez H, Macek M, Madge S, Davies JC,
Burgel PR, Tullis E, Castaños C, Castellani C, Byrnes CA, Cathcart F,
Chotirmall SH, Cosgriff R, Eichler I, Fajac I, Goss CH, Drevinek P,
Farrell PM, Gravelle AM, Havermans T, Mayer-Hamblett N, Kashirskaya N,
Kerem E, Mathew JL, McKone EF, Naehrlich L, Nasr SZ, Oates GR, O’Neill
C, Pypops U, Raraigh KS, Rowe SM, Southern KW, Sivam S, Stephenson AL,
Zampoli M, Ratjen F. The future of cystic fibrosis care: a global
perspective. Lancet Respir Med. 2020 Jan;8(1):65-124. doi:
10.1016/S2213-2600(19)30337-6.
[4] Schneider EK, Reyes-Ortega F, Wilson JW, Kotsimbos T, Keating D,
Li J, Velkov T. Development of HPLC and LC-MS/MS methods for the
analysis of ivacaftor, its major metabolites and lumacaftor in plasma
and sputum of cystic fibrosis patients treated with ORKAMBI or KALYDECO.
J Chromatogr B Analyt Technol Biomed Life Sci 2016;1038:57-62. doi:
10.1016/j.jchromb.2016.10.026.
[5] Schneider EK, Reyes-Ortega F, Li J, Velkov T. Optimized LC-MS/MS
Method for the High-throughput Analysis of Clinical Samples of
Ivacaftor, Its Major Metabolites, and Lumacaftor in Biological Fluids of
Cystic Fibrosis Patients. J Vis Exp 2017;(128):56084. doi:
10.3791/56084.
[6] Guimbellot JS, Ryan KJ, Anderson JD, Liu Z, Kersh L, Esther CR,
Rowe SM, Acosta EP. Variable cellular ivacaftor concentrations in people
with cystic fibrosis on modulator therapy. J Cyst Fibros.
2020;19(5):742-745. doi: 10.1016/j.jcf.2020.01.011.
[7] Vonk SEM, van der Meer-Vos M, Bos LDJ, Neerincx AH, Majoor CJ,
Maitland-van der Zee AH, Mathôt RAA, Kemper EM. A Quantitative Method
for the Analysis of Ivacaftor, Hydroxymethyl Ivacaftor, Ivacaftor
Carboxylate, Lumacaftor, and Tezacaftor in Plasma and Sputum Using
LC-MS/MS and Its Clinical Applicability. Ther Drug Monit 2020 Nov 4.
doi: 10.1097/FTD.0000000000000829.
[8] EMA. Assessment report ORKAMBI (ivacaftor/lumacaftor). European
medicines agency.
24 September 2015 EMA/686121/2018
[9] Graeber SY, Dopfer C, Naehrlich L, Gyulumyan L, Scheuermann H,
Hirtz S, Wege S, Mairbäurl H, Dorda M, Hyde R, Bagheri-Hanson A,
Rueckes-Nilges C, Fischer S, Mall MA, Tümmler B. Effects of
Lumacaftor-Ivacaftor Therapy on Cystic Fibrosis Transmembrane
Conductance Regulator Function in Phe508del Homozygous Patients with
Cystic Fibrosis. Am J Respir Crit Care Med 2018;197(11):1433-1442. doi:
10.1164/rccm.201710-1983OC.
[10] Sermet-Gaudelus I, Girodon E, Sands D, Stremmler N, Vavrova V,
Deneuville E, Reix P, Bui S, Huet F, Lebourgeois M, Munck A, Iron A,
Skalicka V, Bienvenu T, Roussel D, Lenoir G, Bellon G, Sarles J, Macek
M, Roussey M, Fajac I, Edelman A. Clinical phenotype and genotype of
children with borderline sweat test and abnormal nasal epithelial
chloride transport. Am J Respir Crit Care Med. 2010;182(7):929-36. doi:
10.1164/rccm.201003-0382OC.
[11] Hirtz S, Gonska T, Seydewitz HH, Thomas J, Greiner P, Kuehr J,
et al. CFTR Cl– channel function in native human colon correlates with
the genotype and phenotype in cystic fibrosis. Gastroenterology 2004;
127:1085–1095.
[12] Masson A, Schneider-Futschik EK, Baatallah N, Nguyen-Khoa T,
Girodon E, Hatton A, Flament T, Le Bourgeois M, Chedevergne F, Bailly C,
Kyrilli S, Achimastos D, Hinzpeter A, Edelman A, Sermet-Gaudelus I.
Predictive factors for lumacaftor/ivacaftor clinical response. J Cyst
Fibros. 2019 May;18(3):368-374. doi: 10.1016/j.jcf.2018.12.011. Epub
2018 Dec 28. PMID: 30595473
[13] Mall MA, Mayer-Hamblett N, Rowe SM. Cystic Fibrosis: Emergence
of Highly Effective Targeted Therapeutics and Potential Clinical
Implications. Am J Respir Crit Care Med. 2020 May 15;201(10):1193-1208.
[14] Middleton PG, Mall MA, Dřevínek 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; VX17-445-102 Study Group.
Elexacaftor-Tezacaftor-Ivacaftor for Cystic Fibrosis with a Single
Phe508del Allele. N Engl J Med. 2019 Nov 7;381(19):1809-1819
[15] 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; VX17-445-103 Trial Group. 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. 2019 Nov
23;394(10212):1940-1948.
[16] Griese M, Costa S, Linnemann RW, Mall MA, McKone EF, Polineni
D, Quon BS, Ringshausen FC, Taylor-Cousar JL, Withers NJ, Moskowitz SM,
Daines CL. Safety and Efficacy of Elexacaftor/Tezacaftor/Ivacaftor for
24 Weeks or Longer in People with Cystic Fibrosis and One or More
F508del Alleles: Interim Results of an Open-Label Phase 3 Clinical
Trial. Am J Respir Crit Care Med. 2021 Feb 1;203(3):381-385.
[17] Nichols DP, Paynter AC, Heltshe SL, Donaldson SH, Frederick CA,
Freedman SD, Gelfond D, Hoffman LR, Kelly A, Narkewicz MR, Pittman JE,
Ratjen F, Rosenfeld M, Sagel SD, Schwarzenberg SJ, Singh PK, Solomon GM,
Stalvey MS, Clancy JP, Kirby S, Van Dalfsen JM, Kloster MH, Rowe SM;
PROMISE Study group. Clinical Effectiveness of
Elexacaftor/Tezacaftor/Ivacaftor in People with Cystic Fibrosis: A
Clinical Trial. Am J Respir Crit Care Med. 2022 Mar 1;205(5):529-539.