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ivacaftor / lumacaftor response - Efficacy

MedGen UID:
1001987
•Concept ID:
CN322746
•
Sign or Symptom

Recent clinical studies

Etiology

Isotope dilution LC-MS/MS quantification of the cystic fibrosis transmembrane conductance regulator (CFTR) modulators ivacaftor, lumacaftor, tezacaftor, elexacaftor, and their major metabolites in human serum.
Habler K, Kalla AS, Rychlik M, Bruegel M, Teupser D, Nährig S, Vogeser M, Paal M
Clin Chem Lab Med 2022 Jan 26;60(1):82-91. Epub 2021 Oct 20 doi: 10.1515/cclm-2021-0724. PMID: 34668357
Lumacaftor/ivacaftor in people with cystic fibrosis with an A455E-CFTR mutation.
Berkers G, van der Meer R, Heijerman H, Beekman JM, Boj SF, Vries RGJ, van Mourik P, Doyle JR, Audhya P, Yuan ZJ, Kinnman N, van der Ent CK
J Cyst Fibros 2021 Sep;20(5):761-767. Epub 2020 Nov 26 doi: 10.1016/j.jcf.2020.11.007. PMID: 33249003
Clinical response to lumacaftor-ivacaftor in patients with cystic fibrosis according to baseline lung function.
Burgel PR, Durieu I, Chiron R, Mely L, Prevotat A, Murris-Espin M, Porzio M, Abely M, Reix P, Marguet C, Macey J, Sermet-Gaudelus I, Corvol H, Bui S, Biouhee T, Hubert D, Munck A, Lemonnier L, Dehillotte C, Silva JD, Paillasseur JL, Martin C; French Cystic Fibrosis Reference Network study group
J Cyst Fibros 2021 Mar;20(2):220-227. Epub 2020 Jun 24 doi: 10.1016/j.jcf.2020.06.012. PMID: 32591294

Diagnosis

Isotope dilution LC-MS/MS quantification of the cystic fibrosis transmembrane conductance regulator (CFTR) modulators ivacaftor, lumacaftor, tezacaftor, elexacaftor, and their major metabolites in human serum.
Habler K, Kalla AS, Rychlik M, Bruegel M, Teupser D, Nährig S, Vogeser M, Paal M
Clin Chem Lab Med 2022 Jan 26;60(1):82-91. Epub 2021 Oct 20 doi: 10.1515/cclm-2021-0724. PMID: 34668357
Salivary Thiocyanate as a Biomarker of Cystic Fibrosis Transmembrane Regulator Function.
Malkovskiy AV, Yacob AA, Dunn CE, Zirbes JM, Ryan SP, Bollyky PL, Rajadas J, Milla CE
Anal Chem 2019 Jun 18;91(12):7929-7934. Epub 2019 Jun 4 doi: 10.1021/acs.analchem.9b01800. PMID: 31117414
Immediate effects of lumacaftor/ivacaftor administration on lung function in patients with severe cystic fibrosis lung disease.
Popowicz N, Wood J, Tai A, Morey S, Mulrennan S
J Cyst Fibros 2017 May;16(3):392-394. Epub 2017 Mar 15 doi: 10.1016/j.jcf.2017.02.009. PMID: 28314539

Therapy

Lumacaftor/ivacaftor in people with cystic fibrosis with an A455E-CFTR mutation.
Berkers G, van der Meer R, Heijerman H, Beekman JM, Boj SF, Vries RGJ, van Mourik P, Doyle JR, Audhya P, Yuan ZJ, Kinnman N, van der Ent CK
J Cyst Fibros 2021 Sep;20(5):761-767. Epub 2020 Nov 26 doi: 10.1016/j.jcf.2020.11.007. PMID: 33249003
Clinical response to lumacaftor-ivacaftor in patients with cystic fibrosis according to baseline lung function.
Burgel PR, Durieu I, Chiron R, Mely L, Prevotat A, Murris-Espin M, Porzio M, Abely M, Reix P, Marguet C, Macey J, Sermet-Gaudelus I, Corvol H, Bui S, Biouhee T, Hubert D, Munck A, Lemonnier L, Dehillotte C, Silva JD, Paillasseur JL, Martin C; French Cystic Fibrosis Reference Network study group
J Cyst Fibros 2021 Mar;20(2):220-227. Epub 2020 Jun 24 doi: 10.1016/j.jcf.2020.06.012. PMID: 32591294
Drug efficacy and toxicity prediction: an innovative application of transcriptomic data.
Xia X
Cell Biol Toxicol 2020 Dec;36(6):591-602. Epub 2020 Aug 11 doi: 10.1007/s10565-020-09552-2. PMID: 32780246Free PMC Article
Nasospheroids permit measurements of CFTR-dependent fluid transport.
Guimbellot JS, Leach JM, Chaudhry IG, Quinney NL, Boyles SE, Chua M, Aban I, Jaspers I, Gentzsch M
JCI Insight 2017 Nov 16;2(22) doi: 10.1172/jci.insight.95734. PMID: 29202459Free PMC Article
Orkambi® and amplifier co-therapy improves function from a rare CFTR mutation in gene-edited cells and patient tissue.
Molinski SV, Ahmadi S, Ip W, Ouyang H, Villella A, Miller JP, Lee PS, Kulleperuma K, Du K, Di Paola M, Eckford PD, Laselva O, Huan LJ, Wellhauser L, Li E, Ray PN, Pomès R, Moraes TJ, Gonska T, Ratjen F, Bear CE
EMBO Mol Med 2017 Sep;9(9):1224-1243. doi: 10.15252/emmm.201607137. PMID: 28667089Free PMC Article

Prognosis

Clinical response to lumacaftor-ivacaftor in patients with cystic fibrosis according to baseline lung function.
Burgel PR, Durieu I, Chiron R, Mely L, Prevotat A, Murris-Espin M, Porzio M, Abely M, Reix P, Marguet C, Macey J, Sermet-Gaudelus I, Corvol H, Bui S, Biouhee T, Hubert D, Munck A, Lemonnier L, Dehillotte C, Silva JD, Paillasseur JL, Martin C; French Cystic Fibrosis Reference Network study group
J Cyst Fibros 2021 Mar;20(2):220-227. Epub 2020 Jun 24 doi: 10.1016/j.jcf.2020.06.012. PMID: 32591294
Drug efficacy and toxicity prediction: an innovative application of transcriptomic data.
Xia X
Cell Biol Toxicol 2020 Dec;36(6):591-602. Epub 2020 Aug 11 doi: 10.1007/s10565-020-09552-2. PMID: 32780246Free PMC Article
Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules.
Baatallah N, Bitam S, Martin N, Servel N, Costes B, Mekki C, Chevalier B, Pranke I, Simonin J, Girodon E, Hoffmann B, Mornon JP, Callebaut I, Sermet-Gaudelus I, Fanen P, Edelman A, Hinzpeter A
Hum Mutat 2018 Apr;39(4):506-514. Epub 2018 Jan 16 doi: 10.1002/humu.23389. PMID: 29271547
Nasospheroids permit measurements of CFTR-dependent fluid transport.
Guimbellot JS, Leach JM, Chaudhry IG, Quinney NL, Boyles SE, Chua M, Aban I, Jaspers I, Gentzsch M
JCI Insight 2017 Nov 16;2(22) doi: 10.1172/jci.insight.95734. PMID: 29202459Free PMC Article
Immediate effects of lumacaftor/ivacaftor administration on lung function in patients with severe cystic fibrosis lung disease.
Popowicz N, Wood J, Tai A, Morey S, Mulrennan S
J Cyst Fibros 2017 May;16(3):392-394. Epub 2017 Mar 15 doi: 10.1016/j.jcf.2017.02.009. PMID: 28314539

Clinical prediction guides

Lumacaftor/ivacaftor in people with cystic fibrosis with an A455E-CFTR mutation.
Berkers G, van der Meer R, Heijerman H, Beekman JM, Boj SF, Vries RGJ, van Mourik P, Doyle JR, Audhya P, Yuan ZJ, Kinnman N, van der Ent CK
J Cyst Fibros 2021 Sep;20(5):761-767. Epub 2020 Nov 26 doi: 10.1016/j.jcf.2020.11.007. PMID: 33249003
Clinical response to lumacaftor-ivacaftor in patients with cystic fibrosis according to baseline lung function.
Burgel PR, Durieu I, Chiron R, Mely L, Prevotat A, Murris-Espin M, Porzio M, Abely M, Reix P, Marguet C, Macey J, Sermet-Gaudelus I, Corvol H, Bui S, Biouhee T, Hubert D, Munck A, Lemonnier L, Dehillotte C, Silva JD, Paillasseur JL, Martin C; French Cystic Fibrosis Reference Network study group
J Cyst Fibros 2021 Mar;20(2):220-227. Epub 2020 Jun 24 doi: 10.1016/j.jcf.2020.06.012. PMID: 32591294
Drug efficacy and toxicity prediction: an innovative application of transcriptomic data.
Xia X
Cell Biol Toxicol 2020 Dec;36(6):591-602. Epub 2020 Aug 11 doi: 10.1007/s10565-020-09552-2. PMID: 32780246Free PMC Article
Nasospheroids permit measurements of CFTR-dependent fluid transport.
Guimbellot JS, Leach JM, Chaudhry IG, Quinney NL, Boyles SE, Chua M, Aban I, Jaspers I, Gentzsch M
JCI Insight 2017 Nov 16;2(22) doi: 10.1172/jci.insight.95734. PMID: 29202459Free PMC Article
Immediate effects of lumacaftor/ivacaftor administration on lung function in patients with severe cystic fibrosis lung disease.
Popowicz N, Wood J, Tai A, Morey S, Mulrennan S
J Cyst Fibros 2017 May;16(3):392-394. Epub 2017 Mar 15 doi: 10.1016/j.jcf.2017.02.009. PMID: 28314539

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