Tezacaftor and ivacaftor for the treatment of cystic fibrosis

References

• Chapman S, Robinson G, Stradling J. Cystic fibrosis. Oxford handbook of respiratory medicine. 3rd ed. New York, Oxford University Press; 2014. p. 210.
   Google Scholar
• Cutting GR. Cystic fibrosis genetics: from molecular understanding to clinical application. Nat Rev Genet. 2015;16(1):45–56.
   PubMed Web of Science ®Google Scholar
• Soe K, Gregoire-Bottex MM. A rare CFTR mutation associated with severe disease progression in a 10-year-old Hispanic patient. Clin Case Rep. 2017;5(2):139–144.
   PubMed Web of Science ®Google Scholar
• Veit G, Avramescu RG, Chiang AN, et al. From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations. Mol Biol Cell. 2016;27(3):424–433.
   PubMed Web of Science ®Google Scholar
• Merlo CA, Boyle MP. Modifier genes in cystic fibrosis lung disease. J Lab Clin Med. 2003;141(4):237–241.
   PubMed Web of Science ®Google Scholar
• Rowntree RK, Harris A. The phenotypic consequences of CFTR mutations. Ann Hum Genet. 2003;67(5):471–485.
   PubMedGoogle Scholar
• Boyle MP, De Boeck K. A new era in the treatment of cystic fibrosis: correction of the underlying CFTR defect. Lancet Respir Med. 2013;1(2):158–163.
   PubMed Web of Science ®Google Scholar
• Ramsden D, Carr S Cystic fibrosis trust annual report [ Internet] 2018; 8–77. [cited 2018 Aug 28]. Available from: http://www.cysticfibrosis.org.uk/the-work-we-do/uk-cf-registry/reporting-and-resources.
   Google Scholar
• Cystic Fibrosis Foundation. Patient Registry | CF Foundation [Internet]. 2018 [cited 2019 Jul 25]. Available from: https://www.cff.org/Research/Researcher-Resources/Patient-Registry/.
   Google Scholar
• De Boeck K, Zolin A, Cuppens H, et al. The relative frequency of CFTR mutation classes in European patients with cystic fibrosis. J Cyst Fibros. 2014;13(4):403–409.
   PubMed Web of Science ®Google Scholar
• Yu H, Burton B, Huang C-J, et al. Ivacaftor potentiation of multiple CFTR channels with gating mutations. J Cyst Fibros. 2012;11(3):237–245.
   PubMed Web of Science ®Google Scholar
• Elborn JS. Fixing cystic fibrosis CFTR with correctors and potentiators. Off to a good start. Thorax. 2012;67(1):4–5.
   PubMed Web of Science ®Google Scholar
• Van Goor F, Hadida S, Grootenhuis PDJ, et al. Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. Proc Natl Acad Sci U S A. 2009;106(44):18825–18830.
   PubMed Web of Science ®Google Scholar
• Ramsey BW, Davies J, McElvaney NG, et al. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med. 2011;365(18):1663–1672.
   PubMed Web of Science ®Google Scholar
• Davies JC, Wainwright CE, Canny GJ, et al. Efficacy and safety of ivacaftor in patients aged 6 to 11 years with cystic fibrosis with a G551D mutation. Am J Respir Crit Care Med. 2013;187(11):1219–1225.
   PubMed Web of Science ®Google Scholar
• McKone EF, Borowitz D, Drevinek P, et al. Long-term safety and efficacy of ivacaftor in patients with cystic fibrosis who have the Gly551Asp-CFTR mutation: a phase 3, open-label extension study (PERSIST). Lancet Respir Med. 2014;2(11):902–910.
   PubMed Web of Science ®Google Scholar
• Barry P, Plant B, Nair A, et al. Effects of ivacaftor in patients with cystic fibrosis who carry the G551D mutation and have severe lung disease. Chest. 2014;146(1):152–158.
   PubMed Web of Science ®Google Scholar
• Moss RB, Flume PA, Elborn JS, et al. Efficacy and safety of ivacaftor in patients with cystic fibrosis who have an Arg117His-CFTR mutation: a double-blind, randomised controlled trial. Lancet Respir Med. 2015;3(7):524–533.
   PubMed Web of Science ®Google Scholar
• Davies JC, Cunningham S, Harris WT, et al. Safety, pharmacokinetics, and pharmacodynamics of ivacaftor in patients aged 2–5 years with cystic fibrosis and a CFTR gating mutation (KIWI): an open-label, single-arm study. Lancet Respir Med. 2016;4(2):107–115.
   PubMed Web of Science ®Google Scholar
• Vertex. Product monograph, Kalydeco. [Internet]. Vertex 2012 [cited 2019 Jul 26]. Available from https://pi.vrtx.com/files/uspi_ivacaftor.pdf.
   Google Scholar
• McColley SA. A safety evaluation of ivacaftor for the treatment of cystic fibrosis. Expert Opin Drug Saf. 2016;15(5):709–715.
   PubMed Web of Science ®Google Scholar
• Jordan CL, Noah TL, Henry MM. Therapeutic challenges posed by critical drug-drug interactions in cystic fibrosis. Pediatr Pulmonol. 2016;51(S44):S61–70.
   PubMedGoogle Scholar
• Garg V, Shen J, Li C, et al. Pharmacokinetic and drug–drug interaction profiles of the combination of Tezacaftor/Ivacaftor. Clin Transl Sci. 2019;12(3):267–275.
   PubMed Web of Science ®Google Scholar
• Volkova N, Moy K, Evans J, et al. Disease progression in patients with cystic fibrosis treated with ivacaftor: data from national US and UK registries. J Cyst Fibros-01829(in press);2019. DOI: doi.org/10.1016.j.jcf.2019.05.015.
   Google Scholar
• Bessonova L, Volkova N, Higgins M, et al. Data from the US and UK cystic fibrosis registries support disease modification by CFTR modulation with ivacaftor. Thorax. 2018;73(8):731–740.
   PubMed Web of Science ®Google Scholar
• Sawicki GS, McKone EF, Pasta DJ, et al. Sustained benefit from ivacaftor demonstrated by combining clinical trial and cystic fibrosis patient registry data. Am J Respir Crit Care Med. 2015;192(7):836–842.
   PubMed Web of Science ®Google Scholar
• Kirwan L, Fletcher G, Harrington M, et al. Longitudinal trends in real-world outcomes after initiation of ivacaftor. a cohort study from the cystic fibrosis registry of Ireland. Ann Am Thorac Soc. 2019;16(2):209–216.
   PubMed Web of Science ®Google Scholar
• Flume PA, Liou TG, Borowitz DS, et al. Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation. Chest. 2012;142(3):718–724.
   PubMed Web of Science ®Google Scholar
• Brewington JJ, McPhail GL, Clancy JP. Lumacaftor alone and combined with ivacaftor: preclinical and clinical trial experience of F508del CFTR correction. Expert Rev Respir Med. 2016;10(1):5–17.
   PubMed Web of Science ®Google Scholar
• Clancy JP, Rowe SM, Accurso FJ, et al. Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation. Thorax. 2012;67(1):12–18.
   PubMed Web of Science ®Google Scholar
• Wainwright CE, Elborn JS, Ramsey BW, et al. Lumacaftor–ivacaftor in patients with cystic fibrosis homozygous for Phe508del CFTR. N Engl J Med. 2015;373(3):220–231.
   PubMed Web of Science ®Google Scholar
• Ratjen F, Hug C, Marigowda G, et al. Efficacy and safety of lumacaftor and ivacaftor in patients aged 6–11 years with cystic fibrosis homozygous for F508del-CFTR : a randomised, placebo-controlled phase 3 trial. Lancet Respir Med. 2017;5(7):557–567.
   PubMed Web of Science ®Google Scholar
• Konstan MW, McKone EF, Moss RB, et al. 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.
   PubMed Web of Science ®Google Scholar
• Taylor-Cousar JL, Jain M, Barto TL, et al. Lumacaftor/ivacaftor in patients with cystic fibrosis and advanced lung disease homozygous for F508del-CFTR. J Cyst Fibros. 2018;17(2):228–235.
   PubMed Web of Science ®Google Scholar
• Popowicz N, Wood J, Tai A, et al. Immediate effects of lumacaftor/ivacaftor administration on lung function in patients with severe cystic fibrosis lung disease. J Cyst Fibros. 2017;16(3):392–394.
   PubMed Web of Science ®Google Scholar
• Jones AM, Barry PJ. Lumacaftor/ivacaftor for patients homozygous for Phe508del-CFTR: should we curb our enthusiasm? Thorax. 2015;70(7):615–616.
   PubMed Web of Science ®Google Scholar
• Marigowda G, Liu F, Waltz D. Effect of bronchodilators in healthy individuals receiving lumacaftor/ivacaftor combination therapy. J Cyst Fibros. 2017;16(2):246–249.
   PubMed Web of Science ®Google Scholar
• Hubert D, Chiron R, Camara B, et al. Real-life initiation of lumacaftor/ivacaftor combination in adults with cystic fibrosis homozygous for the Phe508del CFTR mutation and severe lung disease. J Cyst Fibros. 2017;16(3):388–391.
   PubMed Web of Science ®Google Scholar
• Talamo Guevara M, McColley SA. The safety of lumacaftor and ivacaftor for the treatment of cystic fibrosis. Expert Opin Drug Saf. 2017;16(11):1305–1311.
   PubMed Web of Science ®Google Scholar
• Vertex Guidance and Patient Support (GPS). Drug Interactions | ORKAMBI® (lumacaftor/ivacaftor) [Internet]. Vertex. 2018; [cited 2019 Jul 26]. Available from: https://www.orkambihcp.com/drug-interactions.
   Google Scholar
• Lommatzsch ST, Taylor-Cousar JL. The combination of tezacaftor and ivacaftor in the treatment of patients with cystic fibrosis: clinical evidence and future prospects in cystic fibrosis therapy. Ther Adv Respir Dis. 2019;13:1753466619844424.
   Web of Science ®Google Scholar
• Sala MA, Jain M. Tezacaftor for the treatment of cystic fibrosis. Expert Rev Respir Med. 2018;12(9):725–732.
   PubMed Web of Science ®Google Scholar
• Donaldson SH, Pilewski JM, Griese M, et al. Tezacaftor/Ivacaftor in subjects with cystic fibrosis and F508del/F508del-CFTR or F508del/G551D-CFTR. Am J Respir Crit Care Med. 2018;197(2):214–224.
   PubMed Web of Science ®Google Scholar
• Taylor-Cousar JL, Munck A, McKone EF, et al. Tezacaftor–ivacaftor in patients with cystic fibrosis homozygous for Phe508del. N Engl J Med. 2017;377(21):2013–2023.
   PubMed Web of Science ®Google Scholar
• Rowe SM, Daines C, Ringshausen FC, et al. Tezacaftor–ivacaftor in residual-function heterozygotes with cystic fibrosis. N Engl J Med. 2017;377(21):2024–2035.
   PubMed Web of Science ®Google Scholar
• Schwarz C, Sutharsan S, Epaud R, et al. Safety, efficacy, and tolerability of Tezacaftor/ivacaftor in cystic fibrosis patients who previously discontinued Lumacaftor/ivacaftor due to respiratory adverse events: a randomized, double-blind, placebo-controlled phase 3b study. Pneumologie. 2019;73(S01):376.
   Google Scholar
• Flume PA, Owen CA, Brown CD, et al. Long-term safety and efficacy of Tezacaftor/Ivacaftor in patients with cystic fibrosis homozygous for F508del-CFTR or heterozygous for F508del and a residual function mutation: first interim analysis results of a phase 3, open-label, rollover study. AJRCCM. 2018;197:A7807.
   Google Scholar
• Walker S, Flume P, McNamara J, et al. A phase 3 study of tezacaftor in combination with ivacaftor in children aged 6 through 11 years with cystic fibrosis. J Cyst Fibros. 2019;18(5):708–713.
   PubMed Web of Science ®Google Scholar
• Kroon MAGM, Akkerman-Nijland AM, Rottier BL, et al. Drugs during pregnancy and breast feeding in women diagnosed with Cystic Fibrosis - An update. J Cyst Fibros. 2018;17(1):17–25.
   PubMed Web of Science ®Google Scholar
• Trimble A, McKinzie C, Terrell M, et al. Measured fetal and neonatal exposure to Lumacaftor and Ivacaftor during pregnancy and while breastfeeding. J Cyst Fibros. 2018;17(6):779–782.
   PubMed Web of Science ®Google Scholar
• Nash EF, Brokaar E, Casey R, et al. WS12-2-1 Pregnancy outcomes in women with cystic fibrosis on ivacaftor - an international survey. J Cyst Fibros. 2019;18:S22.
   PubMedGoogle Scholar
• Kaminski R, Nazareth D. Letter to the Editor A successful uncomplicated CF pregnancy while remaining on Ivacaftor. J Cyst Fibros. 2016;15:133–134.
   PubMed Web of Science ®Google Scholar
• Boyle MP, Bell SC, Konstan MW, et al. 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. 2014;2(7):527–538.
   PubMed Web of Science ®Google Scholar
• Habib A-R-R, Kajbafzadeh M, Desai S, et al. A systematic review of the clinical efficacy and safety of CFTR modulators in cystic fibrosis. Sci Rep. 2019;9(1):7234.
   PubMedGoogle Scholar
• Veit G, Avramescu RG, Perdomo D, et al. Some gating potentiators, including VX-770, diminish F508-CFTR functional expression. Sci Transl Med. 2014;6(246):246ra97–246ra97.
   PubMed Web of Science ®Google Scholar
• Cholon DM, Quinney NL, Fulcher ML, et al. Potentiator ivacaftor abrogates pharmacological correction of F508 CFTR in cystic fibrosis. Sci Transl Med. 2014;6(246):246ra96–246ra96.
   PubMed Web of Science ®Google Scholar
• Taylor-Cousar JL, Mall MA, Ramsey BW, et al. Clinical development of triple-combination CFTR modulators for cystic fibrosis patients with one or two F508del alleles. ERJ Open Res. 2019;5(2):00082–2019.
   PubMedGoogle Scholar
• Davies JC, Moskowitz SM, Brown C, et al. VX-659–tezacaftor–ivacaftor in patients with cystic fibrosis and one or two Phe508del alleles. N Engl J Med. 2018;379(17):1599–1611.
   PubMed Web of Science ®Google Scholar
• Keating D, Marigowda G, Burr L, et al. VX-445–tezacaftor–ivacaftor in patients with cystic fibrosis and one or two Phe508del Alleles. N Engl J Med. 2018;379(17):1612–1620.
   PubMed Web of Science ®Google Scholar
• Hubert D, Dehillotte C, Munck A, et al. Retrospective observational study of French patients with cystic fibrosis and a Gly551Asp-CFTR mutation after 1 and 2years of treatment with ivacaftor in a real-world setting. J Cyst Fibros. 2018;17(1):89–95.
   PubMed Web of Science ®Google Scholar
• Siracusa CM, Ryan J, Burns L, et al. Electronic monitoring reveals highly variable adherence patterns in patients prescribed ivacaftor. J Cyst Fibros. 2015;14(5):621–626.
   PubMed Web of Science ®Google Scholar
• Trimble AT, Donaldson SH. Ivacaftor withdrawal syndrome in cystic fibrosis patients with the G551D mutation. J Cyst Fibros. 2018;17(2):e13–6.
   PubMedGoogle Scholar
• Gifford A, Pearson K, Aliaj E, et al. P279 Withdrawing existing chronic therapies in people with cystic fibrosis who benefit from highly effective CFTR modulator drugs. J Cyst Fibros. 2019;18:S136.
   Google Scholar
• Roesch EA, Nichols DP, Chmiel JF. Inflammation in cystic fibrosis: an update. Pediatr Pulmonol. 2018;53(S3):S30–50.
   PubMedGoogle Scholar
• Sun X, Yi Y, Yan Z, et al. In utero and postnatal VX-770 administration rescues multiorgan disease in a ferret model of cystic fibrosis. Sci Transl Med. 2019;11(485):eaau7531.
   PubMed Web of Science ®Google Scholar
• Chouchane I, Stremler‐Lebel N, Reix P. Lumacaftor/ivacaftor initiation in two liver transplantation patients under tacrolimus and antifungal azoles. Clin Case Rep. 2019;7(4):616–618.
   PubMed Web of Science ®Google Scholar
• Mitchell RM, Jones AM, Barry PJ. CFTR modulator therapy in patients with cystic fibrosis and an organ transplant. Paediatr Respir Rev. 2018;27:6–8.
   PubMed Web of Science ®Google Scholar
• Vertex Selects Triple Combination Regimen of VX-445, Tezacaftor and Ivacaftor to Submit for Global Regulatory Approvals in Cystic Fibrosis | Vertex Pharmaceuticals [Internet]. 2019 [cited 2019 Jul 26]. https://investors.vrtx.com/news-releases/news-release-details/vertex-selects-triple-combination-regimen-vx-445-tezacaftor-and
   Google Scholar
• Crawford KJ, Downey DG. Theratyping in cystic fibrosis. Curr Opin Pulm Med. 2018;24(6):612–617.
   PubMed Web of Science ®Google Scholar
• Dekkers JF, van der Ent CK, Beekman JM. Novel opportunities for CFTR-targeting drug development using organoids. Rare Dis. 2013;1(1):e27112.
   PubMedGoogle Scholar
• Noordhoek J, Gulmans V, Van Der Ent K, et al. Intestinal organoids and personalized medicine in cystic fibrosis: A successful patient-oriented research collaboration. Curr Opin Pulm Med. 2016;22(6):610–616.
   PubMed Web of Science ®Google Scholar