Ivacaftor: A novel mutation modulating drug

Journal of Clinical and Diagnostic Research

Volumn 8, Issue 11, 2014, Pages SE01-SE05

  Kapoor, Harit ^a   Koolwal, Astha ^a   Singh, Ankur ^b  

^a Theni Government Medical College   (India)

^b MAULANA AZAD MEDICAL COLLEGE   (India)

Author keywords

Cystic fibrosis; Ivacaftor

Indexed keywords

AMINOGLYCOSIDE; CARBAMAZEPINE; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DORNASE ALFA; IVACAFTOR; MANNITOL; PHENOBARBITAL; PHENYTOIN; RIFAMPICIN; TOBRAMYCIN;

AMINO ACID SUBSTITUTION; ARTICLE; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR MUTATION; DIARRHEA; DIZZINESS; DRUG EFFICACY; DRUG INDUCED HEADACHE; DRUG MECHANISM; DRUG SAFETY; DRUG STRUCTURE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LACTATION; MISSENSE MUTATION; NONHUMAN; PATHOGENESIS; PHARMACOGENOMICS; PHASE 2 CLINICAL TRIAL (TOPIC); PHASE 3 CLINICAL TRIAL (TOPIC); PREGNANCY; STOMACH PAIN; UPPER RESPIRATORY TRACT INFECTION;

EID: 84924911682     PISSN: 2249782X     EISSN: 0973709X     Source Type: Journal    
DOI: 10.7860/JCDR/2014/6486.5158     Document Type: Article

References (32)

1. Ratjen F, Doring G. Cystic fibrosis. Lancet. 2003;36:681-89.
2. Bhakoo ON, Kumar R, Walia BN. Mucoviscidosis of the lung. Report of a case. IndianJournal of Pediatrics. 1968;35:183-85.
3. Goodchild MC, Insley J, Rushton DI, Gaze H. Cystic fibrosis in 3 Pakistani children. Archives of Disease in Childhood. 1974;49:739-41.
4. Powers CA, Potter EM, Wessel HU, Lloyd-Still JD. Cystic fibrosis in Asian Indians. Archives of Pediatrics & Adolescent Medicine. 1996;150(5):554-55.
5. Bethesda M. Patient Registry. Annual Data Report. Available from: http://www. cff.org/LivingWithCF/QualityImprovement/PatientRegistryReport/: Cystic Fibrosis Foundation; 2011[Accessed 5 feb 2013]
6. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989;245:1066-73.
7. Cystic Fibrosis Mutation Database. CFTR1, 2013. Available from: http://www. genet.sickkids.on.ca/cftr/ StatisticsPage.html. 2013[Accessed 5 feb 2013].
8. Trust CFRR. Annual Data Report 2012. Available from: http://www.cftrust.org.uk/aboutcf/publications/cfregistryreports/UK_CF_Registry_-_Annual_Data_Report_2012.pdf. [Accessed Feb 2014].
9. Sachdeva K, Saxena R, Puri R, Bijarnia S, Kohli S, Verma IC. Mutation analysis of the CFTR gene in 225 children: identification of five novel severe and seven reported severe mutations. Genetic Testing and Molecular Biomarkers. 2012;16:798-801.
10. Shastri SS, Kabra M, Kabra SK, Pandey RM, Menon PS. Characterisation of mutations and genotype-phenotype correlation in cystic fibrosis: experience from India. Journal of cystic fibrosis: official journal of the European Cystic Fibrosis Society. 2008;7:110-15.
11. Welsh MJ, Smith AE. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell.1993;73(7):1251-54.
12. Davis PB, Schluchter MD, Konstan MW. Relation of sweat chloride concentration to severity of lung disease in cystic fibrosis. Pediatric Pulmonology. 2004;38:204-09.
13. Derichs N. Targeting a genetic defect: cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis. Eur Respir Rev.2013;22:58-65.
14. Van Goor F, Hadida S, Grootenhuis PD, Burton B, Cao D, Neuberger T 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;106:18825-30.
15. Accurso FJ, Rowe SM, Clancy JP, Boyle MP, Dunitz JM, Durie PR, et al. Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation. The New England Journal of Medicine. 2010;363:1991-2003.
16. Ramsey BW, Davies J, McElvaney NG, Tullis E, Bell SC, Drevinek P, et al. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. The New England Journal of Medicine. 2011;365:1663-72.
17. Davies JC, Wainwright CE, Canny GJ, Chilvers MA, Howenstine MS, Munck A, et al. Efficacy and safety of ivacaftor in patients aged 6 to 11 years with cystic fibrosis with a G551D mutation. American journal of Respiratory and Critical Care Medicine. 2013;187:1219-25.
18. Flume PA, Liou TG, Borowitz DS, Li H, Yen K, Ordonez CL, et al. Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation. Chest. 2012;142:718-24.
19. Robertson SM, Luo X, Dubey N, Li C, Chavan AB, Gilmartin GS, et al. Clinical drug-drug interaction assessment of ivacaftor as a potential inhibitor of cytochrome P450 and P-glycoprotein. J Clin Pharmacol. 2014 Aug 7. doi: 10.1002/jcph.377. [Epub ahead of print]
20. Administration USFDA. Notification to the Cystic Fibrosis Community on Kalydeco (ivacaftor). Available from: http://www.fda.gov/Drugs/DrugSafety. [Accessed 5 September, 2013]
21. Condren ME, Bradshaw MD. Ivacaftor: a novel gene-based therapeutic approach for cystic fibrosis. J Pediatr Pharmacol Ther. 2013;18:8-13.
22. Kaiser J. Personalized medicine. New cystic fibrosis drug offers hope, at a price. Science. 2012;335:645.
23. Loudon JA. Ataluren: a ‘no-nonsense’ approach for pulmonary diseases. Pulmonary pharmacology & therapeutics. 2013;26:398-99.
24. Cloutier MM, Guernsey L, Sha’afi RI. Duramycin increases intracellular calcium in airway epithelium. Membr Biochem.1993;10:107-18.
25. Mohammad-Panah R, Ackerley C, Rommens J, Choudhury M, Wang Y, Bear CE. The chloride channel ClC-4 co-localizes with cystic fibrosis transmembrane conductance regulator and may mediate chloride flux across the apical membrane of intestinal epithelia. The Journal of Biological Chemistry. 2002;277:566-74.
26. Cuthbert AW, Shum WK. Characteristics of the entry process for sodium in transporting epithelia as revealed with amiloride. The Journal of physiology. 1976;255:587-604.
27. Daviskas E, Anderson SD, Jaques A, Charlton B. Inhaled mannitol improves the hydration and surface properties of sputum in patients with cystic fibrosis. Chest. 2010;137:861-68.
28. Mainz JG, Schien C, Schiller I, Schädlich K, Koitschev A, Koitschev C, et al. Sinonasal inhalation of dornase alfa administered by vibrating aerosol to cystic fibrosis patients: A double-blind placebo-controlled cross-over trial. J Cyst Fibros. 2014 Mar 1. pii: S1569-1993(14)00045-9. doi: 10.1016/j.jcf.2014.02.005. [Epub ahead of print].
29. Wilschanski M, Yahav Y, Yaacov Y, Blau H, Bentur L, Rivlin J, et al. Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. The New England Journal of Medicine. 2003;349:1433-41.
30. Denning GM, Anderson MP, Amara JF, Marshall J, Smith AE, Welsh MJ. Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. Nature. 1992;358:761-64.
31. Davis PB. Therapy for cystic fibrosis--the end of the beginning?N Engl J Med. 2011;365:1734-35.
32. Welsh MJ. Targeting the basic defect in cystic fibrosis. N Engl J Med. 2010;363:2056-57.