El presente y el futuro | 02 DIC 16

Progresos en fibrosis quística

Evolución de los tratamientos estándar y de las nuevas terapias dirigidas para el manejo de la fibrosis quística
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Referencias bibliográficas:

1 Zolin A, McKone EF, van Rens J et al. ECFS Patient Registry Annual Data Report 2010. Karup: European Cystic Fibrosis Society, 2014.

2 Dodge JA, Lewis PA, Stanton M, Wilsher J. Cystic fibrosis mortality and survival in the UK: 1947–2003. Eur Respir J 2007; 29: 522–26.

3 Hurley MN, McKeever TM, Prayle AP, Fogarty AW, Smyth AR. Rate of improvement of CF life expectancy exceeds that of general population—observational death registration study. J Cyst Fibros 2014; 13: 410–15.

4 Riordan JR. CFTR function and prospects for therapy. Annu Rev Biochem 2008; 77: 701–26.

5 Shamsuddin AK, Quinton PM. Native small airways secrete bicarbonate. Am J Respir Cell Mol Biol 2014; 50: 796–804.

6 Amaral MD. Novel personalized therapies for cystic fibrosis: treating the basic defect in all patients. J Intern Med 2015; 277: 155–66.

7 Sosnay PR, Siklosi KR, Van Goor F, et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet 2013; 45: 1160–67.

8 Cutting GR. Modifier genes in Mendelian disorders: the example of cystic fibrosis. Ann N Y Acad Sci 2010; 1214: 57–69.

9 Guillot L, Beucher J, Tabary O, Le Rouzic P, Clement A, Corvol H. Lung disease modifier genes in cystic fibrosis. Int J Biochem Cell Biol 2014; 52: 83–93.

10 Corvol H, Thompson KE, Tabary O, le Rouzic P, Guillot L. Translating the genetics of cystic fibrosis to personalized medicine. Transl Res 2016; 168: 40–49.

11 Amaral MD, Balch WE. Hallmarks of therapeutic management of the cystic fibrosis functional landscape. J Cyst Fibros 2015; 14: 687–99.

12 Schraufnagel DE, ed. Breathing in America: diseases, progress, and hope. New York: American Thoracic Society, 2010: 47–56. http://www.thoracic.org/patients/patient-resources/breathing-inamerica/resources/chapter-5-chronic-obstructive-pulmonarydisease.pdf (accessed Sept 29, 2015).

13 Johannesson B, Hirtz S, Schatterny J, Schultz C, Mall MA. CFTR regulates early pathogenesis of chronic obstructive lung disease in β ENaC-overexpressing mice. PLoS One 2012; 7: e44059.

14 Bodas M, Tran I, Vij N. Therapeutic strategies to correct proteostasis-imbalance in chronic obstructive lung diseases. Curr Mol Med 2012; 12: 807–14.

15 Sandford A. The role of CFTR mutations in asthma. Can Respir J 2012; 19: 44–45.

16 Tzetis M, Efthymiadou A, Strofalis S, et al. CFTR gene mutations—including three novel nucleotide substitutions—and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease. Hum Genet 2001; 108: 216–21.

17 Clunes LA, Davies CM, Coakley RD, et al. Cigarette smoke exposure induces CFTR internalization and insolubility, leading to airway surface liquid dehydration. FASEB J 2012; 26: 533–45.

18 Sloane PA, Shastry S, Wilhelm A, et al. A pharmacologic approach to acquired cystic fibrosis transmembrane conductance regulator dysfunction in smoking related lung disease. PLoS One 2012; 7: e39809.

19 Boyle MP, De Boeck K. A new era in the treatment of cystic fibrosis: correction of the underlying CFTR defect. Lancet Respir Med 2013; 1: 158–63.

20 Ramsey BW, Davies J, McElvaney NG, et al, and the VX08-770-102 Study Group. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med 2011; 365: 1663–72.

21 De Boeck K, Munck A, Walker S, et al. Efficacy and safety of ivacaftor in patients with cystic fibrosis and a non-G551D gating mutation. J Cyst Fibros 2014; 13: 674–80.

22 Sawicki GS, McKone E, Pasta DJ, Wagener J, Johnson C, Konstan MW. The effect of ivacaftor on the rate of lung function decline in CF patients with G551D-CFTR mutation. 37th European Cystic Fibrosis Conference; Gothenburg, Sweden; June 11–14, 2014. WS3.1

23 Amaral MD, Kunzelmann K. Molecular targeting of CFTR as a therapeutic approach to cystic fibrosis. Trends Pharmacol Sci 2007; 28: 334–41.

24 Smyth AR, Bell SC, Bojcin S, et al, and the European Cystic Fibrosis Society. European Cystic Fibrosis Society standards of care: best practice guidelines. J Cyst Fibros 2014; 13 (suppl 1): S23–42.

25 Button B, Cai LH, Ehre C, et al. A periciliary brush promotes the lung health by separating the mucus layer from airway epithelia. Science 2012; 337: 937–41.

26 Elkins MR, Robinson M, Rose BR, et al, and the National Hypertonic Saline in Cystic Fibrosis (NHSCF) Study Group. A controlled trial of long-term inhaled hypertonic saline in patients with cystic fibrosis. N Engl J Med 2006; 354: 229–40.

27 Bilton D, Daviskas E, Anderson SD, et al, and the B301 Investigators. Phase 3 randomized study of the efficacy and safety of inhaled dry powder mannitol for the symptomatic treatment of non-cystic fibrosis bronchiectasis. Chest 2013; 144: 215–25.

28 Konstan MW, Wagener JS, Pasta DJ, et al, and the Scientific Advisory Group and Investigators and Coordinators of Epidemiologic Study of Cystic Fibrosis. Clinical use of dornase alpha is associated with a slower rate of FEV1 decline in cystic fibrosis. Pediatr Pulmonol 2011; 46: 545–53.

29 Cobos N, Danes I, Gartner S, Gonzalez M, Linan S, Arnau JM. DNase use in the daily care of cystic fibrosis: who benefits from it and to what extent? Results of a cohort study of 199 patients in 13 centres. DNase National Study Group. Eur J Pediatr 2000; 159: 176–81.

30 Sanders NN, Franckx H, De Boeck K, Haustraete J, De Smedt SC, Demeester J. Role of magnesium in the failure of rhDNase therapy in patients with cystic fibrosis. Thorax 2006; 61: 962–66.

31 Protalix BioTherapeutics Announces AIR DNase(TM) Data Presented at the 38th European Cystic Fibrosis Conference. Protalix Biotherapeutics. June 12, 2015. http://phx.corporate-ir.net/phoenix.zhtml?c=101161&p=irol-newsArticle&ID=2058840 (accessed Sept 29, 2015).

32 Bucki R, Cruz K, Pogoda K, et al. Enhancement of Pulmozyme activity in purulent sputum by combination with poly-aspartic acid or gelsolin. J Cyst Fibros 2015; 14: 587–93.

33 Cantin AM, Hartl D, Konstan MW, Chmiel JF. Inflammation in cystic fibrosis lung disease: pathogenesis and therapy. J Cyst Fibros 2015; 14: 419–30.

34 Cohen-Cymberknoh M, Kerem E, Ferkol T, Elizur A. Airway inflammation in cystic fibrosis: molecular mechanisms and clinical implications. Thorax 2013; 68: 1157–62.

35 Govan JR, Deretic V. Microbial pathogenesis in cystic fibrosis: mucoid Pseudomonas aeruginosa and Burkholderia cepacia. Microbiol Rev 1996; 60: 539–74.

36 Staudinger BJ, Muller JF, Halldorsson S, et al. Conditions associated with the cystic fibrosis defect promote chronic Pseudomonas aeruginosa infection. Am J Respir Crit Care Med 2014; 189: 812–24.

37 Konstan MW, Doring G, Heltshe SL, et al, and the Investigators and Coordinators of BI Trial 543.45. A randomized double blind, placebo controlled phase 2 trial of BIIL 284 BS (an LTB4 receptor antagonist) for the treatment of lung disease in children and adults with cystic fibrosis. J Cyst Fibros 2014; 13: 148–55.

38 Eigen H, Rosenstein BJ, FitzSimmons S, Schidlow DV, and the Cystic Fibrosis Foundation Prednisone Trial Group. A multicenter study of alternate-day prednisone therapy in patients with cystic fibrosis. J Pediatr 1995; 126: 515–23.

39 Balfour-Lynn IM, Lees B, Hall P, et al, and the CF WISE (Withdrawal of Inhaled Steroids Evaluation) Investigators. Multicenter randomized controlled trial of withdrawal of inhaled corticosteroids in cystic fibrosis. Am J Respir Crit Care Med 2006; 173: 1356–62.

40 Doring G, Bragonzi A, Paroni M, et al. BIIL 284 reduces neutrophil numbers but increases P aeruginosa bacteremia and inflammation in mouse lungs. J Cyst Fibros 2014; 13: 156–63.

41 Konstan MW, Schluchter MD, Xue W, Davis PB. Clinical use of Ibuprofen is associated with slower FEV1 decline in children with cystic fibrosis. Am J Respir Crit Care Med 2007; 176: 1084–89.

42 Konstan MW, VanDevanter DR, Rasouliyan L, et al, and the Scientific Advisory Group, and the Investigators and Coordinators of the Epidemiologic Study of Cystic Fibrosis. Trends in the use of routine therapies in cystic fibrosis: 1995–2005. Pediatr Pulmonol 2010; 45: 1167–72.

43 Carlile GW, Robert R, Goepp J, et al. Ibuprofen rescues mutant cystic fibrosis transmembrane conductance regulator trafficking. J Cyst Fibros 2015; 14: 16–25.

44 De Boeck K, Fajac I, Ratjen F. End-points and biomarkers for clinical trials in cystic fibrosis. Eur Respir Monogr 2014; 64: 104–115.

45 Springman E, Grosswald R, Philpot E, et al. A phase 1 clinical study of CTX-4430 in cystic fibrosis patients. 38th European Cystic Fibrosis Conference; Brussels, Belgium; June 10–13, 2015. 126.

46 Corbus Pharma. http://www.corbuspharma.com/news/pressreleases/detail/199/corbus-pharmaceuticals-announces-fda-orphandrug (accessed March 25, 2016).

47 Griese M, Latzin P, Kappler M, et al. alpha1-Antitrypsin inhalation reduces airway inflammation in cystic fibrosis patients. Eur Respir J 2007; 29: 240–50.

48 Nichols D, Donaldson SH, Dorkin H, et al. A 3 week dose escalation, randomized, double-blind, placebo-controlled trial to assess the safety, tolerability, and possible efficacy of 100 mg or 200 mg of once daily inhaled alpha-1 HC in cystic fibrosis (CF). 28th Annual North American Cystic Fibrosis Conference; Atlanta, GA, USA; Oct 9–11, 2014. 281.

49 Kogan I, Ramjeesingh M, Li C, et al. CFTR directly mediates nucleotide-regulated glutathione fl ux. EMBO J 2003; 22: 1981–89.

50 Bishop C, Hudson VM, Hilton SC, Wilde C. A pilot study of the effect of inhaled buffered reduced glutathione on the clinical status of patients with cystic fibrosis. Chest 2005; 127: 308–17.

51 Hartl D, Starosta V, Maier K, et al. Inhaled glutathione decreases PGE2 and increases lymphocytes in cystic fibrosis lungs. Free Radic Biol Med 2005; 39: 463–72.

52 Griese M, Kappler M, Eismann C, et al, and the Glutathione Study Group. Inhalation treatment with glutathione in patients with cystic fibrosis. A randomized clinical trial. Am J Respir Crit Care Med 2013; 188: 83–89.

53 Tirouvanziam R, Conrad CK, Bottiglieri T, Herzenberg LA, Moss RB, Herzenberg LA. High-dose oral N-acetylcysteine, a glutathione prodrug, modulates inflammation in cystic fibrosis. Proc Natl Acad Sci USA 2006; 103: 4628–33.

54 Conrad C, Lymp J, Thompson V, et al. Long-term treatment with oral N-acetylcysteine: affects lung function but not sputum inflammation in cystic fibrosis subjects. A phase II randomized placebo-controlled trial. J Cyst Fibros 2015; 14: 219–27.

55 Tiddens HA, Bos AC, Mouton JW, Devadason S, Janssens HM. Inhaled antibiotics: dry or wet? Eur Respir J 2014; 44: 1308–18.

56 Agent P, Parrott H. Inhaled therapy in cystic fibrosis: agents, devices and regimens. Breathe (Sheff ) 2015; 11: 110–18.

 

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