Fixing cystic fibrosis CFTR with correctors and potentiators. Off to a good start

Thorax

Volumn 67, Issue 1, 2012, Pages 4-5

  Elborn, J Stuart ^a  

^a QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

IVACAFTOR; LUMACAFTOR; PLACEBO; TRANSMEMBRANE CONDUCTANCE REGULATOR;

CYSTIC FIBROSIS; DRUG EFFICACY; DRUG MEGADOSE; DRUG SAFETY; EDITORIAL; GENE MUTATION; GENE THERAPY; HUMAN; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN TRANSPORT; TREATMENT OUTCOME;

EID: 84855206780     PISSN: 00406376     EISSN: 14683296     Source Type: Journal    
DOI: 10.1136/thoraxjnl-2011-201197     Document Type: Editorial

References (21)

1. Riordan JR, Rommens JM, Kerem B, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989;245:1066-73. (Pubitemid 19231814)
2. Berger HA, Anderson MP, Gregory RJ, et al. Identification and regulation of the cystic fibrosis transmembrane conductance regulator-generated chloride channel. J Clin Invest 1991;88:1422-31.
3. Knowles M, Gatzy J, Boucher R. Relative ion permeability of normal and cystic fibrosis nasal epithelium. J Clin Invest 1983;71:1410-17. (Pubitemid 13098931)
4. Quinton PM. Chloride impermeability in cystic fibrosis. Nature 1983;301:421-2. (Pubitemid 13160555)
5. Welsh MJ, Smith AE. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 1993;73:1251-4. (Pubitemid 23201140)
6. Poulsen JH, Fischer H, Illek B, et al. Bicarbonate conductance and pH regulatory capability of cystic fibrosis transmembrane conductance regulator. Proc Natl Acad Sci U S A 1994;91:5340-4. (Pubitemid 24174322)
7. Mall M, Bleich M, Greger R, et al. The amiloride-inhibitable Na+ conductance is reduced by the cystic fibrosis transmembrane conductance regulator in normal but not in cystic fibrosis airways. J Clin Invest 1998;102:15-21. (Pubitemid 28323825)
8. Alton E, Ferrari S, Griesenbach U. Progress and prospects: gene therapy clinical trials (part 1). Gene Ther 2007;14:1439-47. (Pubitemid 47500647)
9. Alexander BL, Ali RR, Alton EW, et al. Progress and prospects: gene therapy clinical trials (part 1). Gene Ther 2007;14:1754.
10. McLachlan G, Davidson D, Holder E, et al. Pre-clinical evaluation of three non-viral gene transfer agents for cystic fibrosis after aerosol delivery to the ovine lung. Gene Ther 2011;18:996-1005.
11. Van Goor F, Hadida S, Grootenhuis PD, 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.
12. The Molecular Genetic Epidemiology of Cystic Fibrosis. Report of a Joint Meeting WHO/ECFTN/ICF (M)A/ECFS. Geneva: WHO Human Genetics Programme WHO/HGN/CF/WG/04.02.
13. Comer DM, Ennis M, McDowell C, et al. Clinical phenotype of cystic fibrosis patients with the G551D mutation. QJM 2009;102:793-8.
14. Accurso FJ, Rose SM, Clancy JP. Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation. N Engl J Med 2010;363:1991-2003.
15. Ramsey BW, Davies J, McElvaney NG, et al. A CFTR potentiator in patients with cystic fibrosis who have the G551D mutation. N Engl J Med 2011;365:1663-72.
16. Yu H, Burton B, van Goor F. VX-770 an investigational CFTR potentiator acts on multiple CFTR forms in vitro. Ped Pulmonol 2010;(Suppl 33):318-19.
17. Cheng SH, Gregory RJ, Marshall J, et al. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 1990;63:827-34. (Pubitemid 120035055)
18. Denning GM, Anderson MP, Amara JF, et al. Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. Nature 1992;358:761-4.
19. Clancy JP, Rowe SM, Accurso FJ, et al. Results of a phase 2a study of VX-809, an investigational CFTR corrector compound, in cystic fibrosis subjects homozygous for the F508del-CFTR mutation. Thorax 2012;67:12-8.
20. Sermet-Gaudelus I, De Boeck K, Casimir GJ, et al. Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis. Am J Respir Crit Care Med 2010;182:1262-72.
21. Wilskanski M, Kerem E. New drugs for cystic fibrosis. Expert Opin Investig Drugs 2011;21:4824-31.