Novel therapeutic approaches for cystic fibrosis

Discovery Medicine

Volumn 15, Issue 81, 2013, Pages 127-133

  Wilschanski, Michael ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CYSTIC FIBROSIS; GENETICS; HUMAN; PATHOLOGY;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HUMANS;

EID: 84886309774     PISSN: 15396509     EISSN: 19447930     Source Type: Journal    
DOI: None     Document Type: Article

References (34)

1. Accurso FJ, Rowe SM, Clancy JP, Boyle MP, Dunitz JM, Durie PR, Sagel SD, Hornick DB, Konstan MW, Donaldson SH, Moss RB, Pilewski JM, Rubenstein RC, Uluer AZ, Aitken ML, Freedman SD, Rose LM, Mayer-Hamblett N, Dong Q, Zha J, et al. Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTRmutation. N Eng J Med 363:1991-2003, 2010.
2. Aherns R, Rodriguez S, Yen K, Davies JC. VX-770 in subjects 6 to 11 years with cystic fibrosis and the G551D-CFTR mutation. Ped Pulm 46(Suppl):A203, 2011.
3. Bartlett JR, Friedman KJ, Ling SC, Pace RG, Bell SC, Bourke B, Castaldo G, Castellani C, Cipolli M, Colombo C, Colombo JL, Debray D, Fernandez A, Lacaille F, Macek M Jr, Rowland M, Salvatore F, Taylor CJ, Wainwright C, Wilschanski M, et al. Genetic modifiers of liver disease in cystic fibrosis. JAMA 302:1076-1083, 2009.
4. Bear CE, Li CH, Kartner N Bridges RJ,Jensen TJ,Ramjeesingh M,Riordan JR. Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR). Cell 68:809-819, 1992.
5. Bedwell DM, Kaenjak A, Benos DJ, Bebok Z, Bubien JK, Hong J, Tousson A, Clancy JP, Sorscher EJ. Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line. Nat Med 3:1280-1284, 1997.
6. Clancy JP, Bebök Z, Ruiz F, King C, Jones J, Walker L, Greer H, Hong J, Wing L, Macaluso M, Lyrene R, Sorscher EJ, Bedwell DM. Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis. Am J Respir Crit Care Med 163:1683-1692, 2001.
7. Clancy JP, Rowe SM, Accurso FJ, Aitken ML, Amin RS, Ashlock MA, Ballmann M, Boyle MP, Bronsveld I, Campbell PW, De Boeck K, Donaldson SH, Dorkin HL, Dunitz JM, Durie PR, Jain M, Leonard A, McCoy KS, Moss RB, Pilewski JM, 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 67:12-18, 2012.
8. Cystic Fibrosis Foundation. Patient Registry 2007 Annual Report. Bethesda, Maryland: Cystic Fibrosis Foundation, Available at http://www.cff.org/ID=4573/TYPE=2676/2004%20Patient%20Registry%20Report.pdf
9. Davies JC, Alton EW. Design of gene therapy trials in CF patients. Methods Mol Biol 741:55-68, 2011.
10. Drumm ML, Konstan MW, Schluchter MD, Handler A, Pace R, Zou F, Zariwala M, Fargo D, Xu A, Dunn JM, Darrah RJ, Dorfman R, Sandford AJ, Corey M, Zielenski J, Durie P, Goddard K, Yankaskas JR, Wright FA, Knowles MR. Genetic modifiers of lung disease in cystic fibrosis. N Engl J Med 353(14):1443-1453, 2005.
11. Du M, Liu X, Welch EM, Hirawat S, Peltz SW, Bedwell DM. PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model. Proc Natl Acad Sci U S A 105:2064-2069, 2008.
12. Gorini L, Kataja E. Phenotypic repair by streptomycin of defective genotypes in E Coli. Proc Natl Acad Sci U S A 51:487-493, 1964.
13. Hermann T. Aminoglycoside antibiotics: old drugs and new therapeutic approaches. Cell Mol Life Sci 64:1841-1852, 2007.
14. Howard M, Frizzel RA, Bedwell DM. Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat Med 2:467-469, 1996.
15. Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC. Identification of the cystic fibrosis gene: genetic analysis. Science 245:1073-1080, 1989.
16. Kerem B, Chiba-Falek O, Kerem E. Cystic fibrosis in Jews: frequency and mutation distribution. Genet Test 1:35-39, 1997.
17. Kerem E, Hirawat S, Armoni S, Yaakov Y, Shoseyov D, Cohen M, Nissim-Rafinia M, Blau H, Rivlin J, Aviram M, Elfring GL, Northcutt VJ, Miller LL, Kerem B, Wilschanski M. Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Lancet 372:719-727, 2008.
18. Linde L, Boelz S, Nissim-Rafinia M, Oren YS, Wilschanski M, Yaacov Y, Virgilis D, Neu-Yilik G, Kulozik AE, Kerem E, Kerem B. Ninsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin. J Clin Invest 117:1-9, 2007.
19. Pedemonte N, Lukacs GL, Du K, Caci E, Zegarra-Moran O, Galietta LJ, Verkman AS. Small-molecule correctors of defective δ F508-CFTR cellular processing identified by high-throughput screening. J Clin Invest 115:2564-2571, 2005.
20. Rowe S, Sermet-Gaudelus I, Konstan M, Kerem E, Wilschanski M, DeBoeck K, Accurso F, Miller NL, Elfring GL, Barth J, Ajayi T. Results of the phase 3 study of ataluren in nonsense mutation cystic fibrosis Ped Pulmonol l 35(Suppl):A193, 2012.
21. Ramsey BW, Davies J, McElvaney NG, Tullis E, Bell SC, Dřevínek P, Griese M, McKone EF, Wainwright CE, Konstan MW, Moss R, Ratjen F, Sermet-Gaudelus I, Rowe SM, Dong Q, Rodriguez S, Yen K, Ordoñez C, Elborn JS. A CFTR potentiator in patients with CF and the G551D mutation. N Engl J Med 365:1663-1672, 2011.
22. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, et al. Identification of the cystic fibrosis gene: cloning and characterization of the complementary DNA. Science 245:1066-1073, 1989.
23. Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245:1059-1065, 1989.
24. Sermet-Gaudelus I, Renouil M, Fajac A, Bidou L, Parbaille B, Pierrot S, Davy N, Bismuth E, Reinert P, Lenoir G, Lesure JF, Rousset JP, Edelman A. In vitro prediction of stop codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study. BMC Med 5:5, 2007.
25. Sermet-Gaudelus I, Boeck KD, Casimir GJ, Vermeulen F, Leal T, Mogenet A, Roussel D, Fritsch J, Hanssens L, Hirawat S, Miller NL, Constantine S, Reha A, Ajayi T, Elfring GL, Miller LL. Ataluren (PTC124) induces CFTR protein expression and activity in children with nonsense-mutation cystic fibrosis. Am J Respir Care Med 182:1262-1272, 2010.
26. Van Goor F, Hadida S, Grootenhuis PD, Burton B, Cao D, Neuberger T, Turnbull A, Singh A, Joubran J, Hazlewood A, Zhou J, McCartney J, Arumugam V, Decker C, Yang J, Young C, Olson ER, Wine JJ, Frizzell RA, Ashlock M, Negulescu P. Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. PNAS 106:18825-18830, 2009.
27. Van Goor F, Hadida S, Grootenhuis PD, Burton B, Stack JH, Straley KS, Decker CJ, Miller M, McCartney J, Olson ER, Wine JJ, Frizzell RA, Ashlock M, Negulescu PA. Correction of the F508-del-CFTR protein processing defect in vitro by the investigational drug VX-809. Proc Natl Acad Sci U S A 108:18843-18848, 2011.
28. Varga K, Goldstein RF, Jurkuvenaite A, Chen L, Matalon S, Sorscher EJ, Bebok Z, Collawn JF. Enhanced cell-surface stability of rescued δF508 cystic fibrosis transmembrane conductance regulator (CFTR) by pharmacological chaperones Biochem J 410:555-564, 2008.
29. Wang F, Zeltwanger F, Hu S, Hwang TC. Deletion of phenylalanine 508 causes attenuated phosphorylation-dependant activation of CFTR chloride channels. J Physiol 524:637-648, 2000.
30. Welch EM, Barton ER, Zhuo J, Tomizawa Y, Friesen WJ, Trifillis P, Paushkin S, Patel M, Trotta CR, Hwang S, Wilde RG, Karp G, Takasugi J, Chen G, Jones S, Ren H, Moon YC, Corson D, Turpoff AA, Campbell JA, et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature 447:87-91, 2007.
31. Wilschanski M, Zielenski J, Markiewicz D, Tsui LC, Corey M, Levison H, Durie PR. Correlation of sweat chloride analysis with classes of CFTR gene mutations. J Pediatr 127:705-710, 1995.
32. Wilschanski M, Famini C, BlauH, Rivlin J, Augarten A, Avital A, Kerem B, Kerem E. A pilot study of the effect of gentamicin on nasal potential difference measurements in cystic fibrosis patients carrying stop mutations. Am J Respir Crit Care Med 163:1683-1692, 2001.
33. Wilschanski M, Yahav Y, Yaacov Y, Blau H, Bentur L, Rivlin J, Aviram M, Bdolah-Abram T, Bebok Z, Shushi L, Kerem B, Kerem E. Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med 349:1433-1441, 2003.
34. Wilschanski M, Miller LL, Shoseyov D, Blau H, Rivlin J, Aviram M, Cohen M,Armoni S, Yaakov Y, Pugatsch T, Cohen-Cymberknoh M, Miller NL, Reha A, Northcutt VJ, Hirawat S, Donnelly K, Elfring GL, Ajayi T, Kerem E. Chronic Ataluren (PTC 124) treament of nonsense mutation cystic fibrosis. Eur Respir J 38:59-69, 2011.