Small molecules to treat cystic fibrosis

Proceedings of the American Thoracic Society

Volumn 7, Issue 6, 2010, Pages 399-403

  Wilschanski, Michael ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Corrector; Cystic fibrosis; Potentiator; Read through; Stop mutation

Indexed keywords

ANIMAL; CYSTIC FIBROSIS; GENE THERAPY; HUMAN; PATHOPHYSIOLOGY; REVIEW;

ANIMALS; CYSTIC FIBROSIS; GENE THERAPY; HUMANS;

EID: 79952644991     PISSN: 15463222     EISSN: 19435665     Source Type: Journal    
DOI: 10.1513/pats.201001-012AW     Document Type: Conference Paper

References (37)

1. Cystic Fibrosis Foundation. Patient registry 2008 annual report [Internet]. Bethesda, MD: Cystic Fibrosis Foundation. Available from: http:// www.cff.org/UploadedFiles/research/ClinicalResearch/2008-patientregistry-report.pdf
2. Kerem B, Rommens JM, Buchanan WJA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC Identification of the cystic fibrosis gene: genetic analysis. Science 1989;245:1073-1080.
3. 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 1989;245:1059-1065.
4. 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 1989;245:1066-1073.
5. 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 1992;68: 809-819.
6. http://www.genet.sickkids.on.ca/cftr/app
7. Kazazian HH Jr. Population variation of common cystic fibrosis mutations: the cystic fibrosis genetic analysis consortium. Hum Mutat 1994;4:167-177.
8. Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration 2000; 67:117-133.
9. 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 1995;127:705-710.
10. Bartlett JR, Friedman KJ, Ling SC, Pace RG, Bell SC, Bourke B, Castaldo G, Castellani C, Cipolli M, Colombo C, et al. Genetic Modifiers of liver disease in cystic fibrosis. JAMA 2009;302:1076-1083.
11. Drumm ML, Constan MW, Schluchter MD, Handler A, Pace R, Zou F, Zarlwala M, Fargo D, Xu A, Dunn JM, et al. Genetic modifiers of lung disease in cystic fibrosis. N Engl J Med 2005;353:1443-1453.
12. Davies JC. Gene and cell therapy for CF. Paediatr Respir Rev 2006;7: S163-S165.
13. Pedemonte N, Lukacs GL, Du K, Caci E, Zegarra-Moran O, Galietta LJ, Verkman AI. Small-molecule correctors of defective D F508-CFTR cellular processing identified by high-throughput screening. J Clin Invest 2005;115:2564-2571.
14. Varga K, Goldstein RF, Jurkuvenaite A, Chen L, Malaton S, Sorscher EJ, Bebok Z, Collawn JF. Enhanced cell-surface stability of rescued DF508 cystic fibrosis transmembrane conductance regulator (CFTR) by pharmacological chaperones. Biochem J 2008;410:555-564.
15. Clancy JP, Spencer-Green G; for the VX-809-101 Study Group. Clinical evaluation of VX-809, a novel investigational oral F508del-CFTR corrector, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation JCF 2010;9(Suppl 1A):73.
16. Van Goor F, Hadida S, Grootenhuis PDJ, Burton B, Cao D, Neuberger T, Turnbull A, Singh A, Joubran J, Hazlewood A. Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. Proc Natl Acad Sci USA 2009;106:18825-18830.
17. Clancy JP, Rowe SM, Durie P, Freedman S, Dong Q, Ordonez C, Ashlock M, Accurso FJ. NPD evaluation of ion transport in G551D CF patients treated with a CFTR potentiator [abstract]. Ped Pulmonol 2009;(Suppl 32A):222.
18. Accurso F. The Tiger-1 clinical trial on denufosol in cystic fibrosis [abstract]. Ped Pumonol 2008;(Suppl 31):A191.
19. Grasemann H, Stehling F, Brunar H, Widman R, Laliberte TW, Molina L, Doring G, Ratjen F. Inhalation of moli1901 in patients with cystic fibrosis. Chest 2007;131:1461-1466.
20. Kerem B, Chiba-Falek O, Kerem E. Cystic fibrosis in Jews: frequency and mutation distribution. Genet Test 1997;1:35-39.
21. Hermann T. Aminoglycoside antibiotics:old drugs and new therapeutic approaches. Cell Mol Life Sci 2007;64:1841-1852.
22. Gorini L, Kataja E. Phenotypic repair by streptomycin of defective genmotypes in E coli. Proc Natl Acad Sci USA 1964;51:487-493.
23. Howard M, Frizzel RA, Bedwell DM. Aminoglycoside antibiotics restore CccFTR function by overcoming premature stop mutations. Nat Med 1996;2:467-469.
24. 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 1997; 3:1280-1284.
25. Barton-Davis ER, Cordier L, Shoturma Di, Leland SE, Sweeney H. Aminoglycoside antibiotics restore dystrophin function to skeletal muscle of mdx mice. J Clin Invest 1999;104:3745-3781.
26. Du M, Jones JR, Lanier J, Keeling KM, Lindsey JR, Tousson A, Bebok Z, Whittsett JA, Dey CR, Colledge WH, et al. Aminoglycoside suppression of a premature stop mutation in a Cftr2/2 mouse carrying CFTR-G542X transgene. J Mol Med 2002;80:595-604.
27. Wilschanski M, Famini C, Blau, H, 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 2001;163:1683-1692.
28. Wilschanski M, Yahav Y, Yaakov Y, Blau H, Bentur L, Rivlin J, Aviram M, Bdolah-Abram T, Bebok Z, Shushi L, Kerem B, Kerem E. Gentamicin-induced correction of of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med 2003;349: 1433-1441.
29. Clancy JP, Bebok Z, Ruiz F, King C, Jones J, Walker L, Greer H, Hong T, Wing L, Macaluso M, et al. Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis. Am J Respir Crit Care Med 2001;163:1683-1692.
30. Sermet-Gaudilus I, Renouil M, Fajac A, Bidou L, Parbaille B, Pierrot S, Davy N, Bismuth E, Reinert P, Lenoir G, et al. In vitro prediction of stop codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study. BMC Med 2007;5:5.
31. Linde L, Boelz S, Nissim-Rafinia M, Oren YS, Wilschanski M, Yaakov Y, Virgillis D, Neuyilik 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 2007;117:1-9.
32. Welch E, Barton ER, Zhuo J, Tomizawa Y, Friessen WJ, Trifillis P, Paushkin S, Patel M, Trotta CR, Hwang S, et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature 2007;447:87-91.
33. Du M, Liu X, Welch EM, Hirawat S, Peltz SW, Bedwell DM. PTC124is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model. Proc Natl Acad Sci USA 2008;105:2064-2069.
34. Kerem E, Hirawat S, Armoni S, Yaakov Y, Shoseyov D, Cohen M, Nissim-Rafina M, Blau H, Rivlin J, Aviram M, et al. Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Lancet 2008;372:719-727.
35. Kerem E, Yaakov Y, Armoni S, Pugatsch T, Shoseyov D, Cohen M, Blau H, Hirawat S, Reha A, Elfring G, et al. PTC124 induces timedependent improvements in chloride conductance and clinical parameters in patients with nonsense mutation mediated cystic fibrosis [abstract] Ped Pulmonol suppl 2008;31:A266.
36. Sermet-Gaudelus I, De Boeck K, Casimir G, Vermeulen F, Leal T, Mogenet A, Roussel P, Fritsch J, Hanssens L, Hirawat S, et al. Ataluren (PTC124) induces CFTR protein expression and activity in children with nonsense-mutation cystic fibrosis. Am J Respir Care Med 2010; Epub ahead of print doi:10.1164/rccm.201001-0137O.C.
37. Wilschanski M , Durie P. Patterns of gastrointestinal disease in adulthood associated with mutations in the cystic fibrosis transmembrane regulator gene. Gut 2007;56:1153-1163.