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INNOVATIVE TREATMENTS FOR CYSTIC FIBROSIS

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Issue: 
2
Year: 
2016

Professor Yu. Kondratyeva, MD Research Center for Medical Genetics, Moscow

The review presents current etiological and pathogenetic methods for the personalized therapy of cystic fibrosis in relation to the class and type of mutation in the CFTR gene. It considers the first innovation agents for the treatment of cystic fibrosis and new promising developments.

Keywords: 
cystic fibrosis
gene
mutations
potentiators
correctors
personalized therapy



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References: 
  1. Kashirskaja N.Ju., Krasovskij S.A., Chernjak A.V. i dr. Dinamika prodol zhitel'nosti zhizni bol'nyh mukovistsidozom, prozhivajuschih v Moskve, i ee svjaz' s poluchaemoj terapiej (retrospektivnyj analiz 1993–2013 gody) // Vopr. sovrem. pediat. –2015; 4: 503–5.
  2. Welsh M., Smith A. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis // Cell. – 1993; 73: 1252–4.
  3. Kerem B., Kerem E. The molecular basis for disease variability in cystic fibrosis // Eur. J. Hum. Genet. – 1996; 4: 65–73.
  4. Castellani C., Cuppens H., Macek Jr. M. et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice // J. Cyst. Fibr. – 2008; 8: 179–96.
  5. Zielenski J. Genotype and phenotype in cystic fibrosis // Respiration. – 2000; 67 (2): 117–33.
  6. Witt H. Chronic pancreatitis and cystic fibrosis // Gut. – 2003; Suppl. 2: 1131–41.
  7. Mukovistsidoz. Pod red. N.I. Kapranova, N.Ju. Kashirskoj / M.: MEDpraktika-M, 2014; 672 s.
  8. Sychev D.A., Sulejmanov S.Sh., Kukes V.G. Personalizirovannaja meditsina kak put' k ratsional'nomu primeneniju lekarstvennyh sredstv: predposylki, realii, problemy i perspektivy dlja otechestvennoj siste-my zdravoohranenija // Zdravoohranenie Dal'nego Vostoka. – 2010; 1: 2–7.
  9. Riordan J., Rommens J., Kerem B. et al. Identification of the cystic fibrosis gene: Cloning and the characterization of complementary DNA // Science. – 1989; 245: 1066–73.
  10. Loubieres Y., Grenet D., Simon-Bouy B. et al. Association between genetically determined pancreatic status and lung disease in adult cystic fibrosis patients // Chest. – 2002; 121 (1): 73–80.
  11. Jentsch T., Maritzen T., Zdebik A. Chloride channel diseases resulting from impaired transepithelial transport or vesicular function // J. Clin. Invest. – 2005; 115: 2039–46.
  12. Mishra A., Greaves R., Massie J. The relevance of sweat testing for the diagnosis of cystic fibrosis in the genomic era // Clin. Biochem. Rev. – 2005; 26: 135–53.
  13. Kogan I., Ramjeesingh M., Li C. et al. CFTR directly mediates nucleotide regulated glutathione flux // The EMBO J. – 2003; 22 (9): 1981–9.
  14. http://www.cfgenetherapy.org.uk/
  15. http://www.cysticfibrosis.org.uk/news/gtc-results-statement
  16. http://www.genet.sickkids.on.ca/cftr
  17. http:www.genet.sickkids.on.ca
  18. Gus'kova A.A., Skoblov M.Ju., Baranova A.V. Zhizn' i smert' belka 1 . CFTR // Med. genetika. – 2007; 6 (2): 3–9.
  19. The Cystic Fibrosis Genetic Analysis Consortium: Population variation of 19. common cystic fibrosis mutations // Hum. Mutat. – 1994; 4 (3): 167–77.
  20. Linde L., Boelz S., Nissim-Rafinia M. et al. Ninsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin // J. Clin. Invest. – 2007; 117: 1–9.
  21. Amelina E.L., Asherova I.K., Volkov I.K. i dr. Registr bol'nyh muko- vistsidozom v Rossijskoj Federatsii, 2013 god // Pul'monologija. – 2015; Pril.: 1–60.
  22. Sermet-Gaudilus I., Renouil M., Fajac A. et al. In vitro prediction of sto codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study // BMC Med. – 2007; 5: 5.
  23. Kerem E., Armoni S., Hirawat S. et al. Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial // Lancet. – 2008; 372: 719–27.
  24. https://clinicaltrials.gov/ct2/show/NCT0210785924.
  25. Van Goor F., Hadida S., Grootenhuis P. et al. Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770 // Proc. Natl. Acad. Sci. USA. – 2009; 106 (44): 18825–30.
  26. http://clinicaltrials.gov (NCT00909532)26.
  27. Vankeerberghen A., Wei L., Jaspers M. et al. Characterization of disease- associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator // Hum. Mol. Genet. – 1998; 7: 1761–9.
  28. Rowntree R., Harris A. The phenotypic consequences of CFTR mutations // 28. Ann. Hum. Genet. – 2003; 67: 471–85
  29. Kerem E. Mutation specific therapy in CF // Paediatr. Respir. Rev. – 2006; 7 29. (1): 166–9.
  30. Proesmans M., Vermeulen F., De Boeck K. What's new in cystic fibrosis? 30. From treating symptoms to correction of the basic defect // Eur. J. Pediatr. – 2008; 167 (8): 839–49.
  31. FDA approves Kalydeco to treat rare form of cystic fibrosis (Press release). 31. Food and Drug Administration. 31 January 2011. Retrieved 24 June 2012.
  32. Vertex Wins Approval for Kalydeco to Treat Cystic Fibrosis. Bloomberg 32. Businessweek. Retrieved 24 June 2012
  33. Orphan Drugs: Paying twice: questions over high cost of cystic fibrosis 33. drug developed with charitable funding // BMJ. – 348: g1445. doi:10.1136/bmj.g1445.
  34. Ramsey B., Davies J., McElvaney N. et al CFTR potentiator in patients 34. with cystic fibrosis and the G551D mutation // N. Engl. J. Med. – 2011; 365: 1663–72.
  35. Flume P., Liou T., Borowitz D. et al. Ivacaftor in subjects with cystic fibrosis 35. who are homozygous for the F508del-CFTR mutation // Chest. – 2012.
  36. Van Goor F., Hadida S., Grootenhuis P. et al Correction of the F508del-CFTR 36. protein processing defect in vitro by the investigational drug VX-809 // Proc. Natl. Acad. Sci. USA. – 2011; 108 (46): 18843–8.
  37. Cain C. Cystic fibrosis two-step // Sci. BX. – 2012; 5 (8): doi:101038/37. scibx2012192.Study of VX-809 alone and in combination with VX-770 in cystic fibrosis 38. (CF) patients homozygous or heterozygous for the F508del-CFTR mutation.URL: http://clinicaltrials.gov/ct2/show/NCT01225211?term=ivacaftor&intr=ivacaftor&rank=4.
  38. Study of VX-661 alone and in combination with VX-770 in subjects 39. homozygous to the F508del-CFTRmutation. URL: http://clinicaltrials.gov/ct2/show/NCT01531673?term=ivacaftor&intr=ivacaftor&rank=2.
  39. http://investors.vrtx.com
  40. http://investors.vrtx.com/releasedetail.cfm41.
  41. Rosen Ch., Shezen E., Aronovich A. et al. Preconditioning allows engraftment of mouse and human embryonic lung cells, enabling lung repair in mice // Nature Medicine. – 2015; 21: 869–79.