Fabry disease: Is there a role for enzyme replacement therapy?

Journal of Internal Medicine

Volumn 274, Issue 4, 2013, Pages 329-330

  Mehta, A B ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; GENZYME; IMIGLUCERASE; SMALL MOLECULE TRANSPORT AGENT; UNCLASSIFIED DRUG; VELAGLUCERASE ALFA;

ANHIDROSIS; CARDIOVASCULAR MAGNETIC RESONANCE; CAUSE OF DEATH; CEREBROVASCULAR ACCIDENT; DEATH; EDITORIAL; ENZYME REPLACEMENT; FABRY DISEASE; FIBROBLAST CULTURE; FOLLOW UP; GAUCHER DISEASE; HEART DISEASE; HUMAN; IMMUNOASSAY; KIDNEY CELL; KIDNEY DYSFUNCTION; PRIORITY JOURNAL; QUALITY OF LIFE; RETICULOENDOTHELIAL SYSTEM; SEX DIFFERENCE; SUDDEN CARDIAC DEATH; TREATMENT DURATION; TREATMENT OUTCOME;

ALPHA-GALACTOSIDASE; DEATH, SUDDEN, CARDIAC; ENZYME REPLACEMENT THERAPY; FABRY DISEASE; FEMALE; HUMANS; ISOENZYMES; KIDNEY FAILURE, CHRONIC; MALE; STROKE;

EID: 84883697843     PISSN: 09546820     EISSN: 13652796     Source Type: Journal    
DOI: 10.1111/joim.12089     Document Type: Editorial

References (15)

1. Linthorst GE, Germain DP, Hollak CE et al. Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT). Mol Genet Metab 2011; 102: 405.
2. Weidemann F, Niemann M, Stork S et al. Long term Outcome in Advanced Fabry disease under causal enzyme replacement therapy. Evidence for disease progression towards serious complications. J Intern Med 2013; [Epub ahead of print].
3. Rombach SM, Smid BE, Bouwman MG, Linthorst GE, Dijkgraaf MG, Hollak CE. Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain. Orphanet J Rare Dis 2013; 8: 47.
4. EI Dib RP, Nascimento P, Pastores GM. Enzyme replacement therapy for Anderson-Fabry disease. Cochrane Database Syst Rev 2013; 2: CD006663.
5. Mehta A, Clarke JTR, Giugliani R et al. Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survery. J Med Genet 2009; 46: 548-52.
6. Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet Med 2009; 11: 790-6.
7. Keslova-Veselikova J, Hulkova H, Dobrovolny R et al. Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients. Virchows Arch 2008; 452: 651-65.
8. Murray GJ, Anver MR, Kennedy MA, Quirk JM, Schiffmann R. Cellular and issue distribution of intravenously administered agalsidase alfa. Mol Genet Metab 2007; 90: 307-12.
9. Lidove O, West ML, Pintos-Morell G et al. Effects of enzyme replacement therapy in Fabry disease - A comprehensive review of the medical literature. Genet Med 2010; 12: 668-79.
10. Mehta A, Beck M, Giugliani R et al. Enzyme replacement therapy with agalasidase alfa in patients with Fabry's disease: an analysis of registry data. Lancet 2009; 374: 1986-96.
11. Frustaci A, Chimenti C. Images in cardiovascular medicine. Cryptogenic ventricular arrhythmias and sudden death by Fabry disease: prominent infiltration of cardiac conduction tissue. Circulation 2007; 116: 350-1.
12. Linthorst GE, Hollak CE, Donker-Koopman WE, Strijland A, Aerts JM. Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alfa and beta. Kidney Int 2004; 66: 1589-95.
13. Ben Turkia H, Gonzalez DE, Barton NW et al. Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease. Am J Hematol, 2013; 88: 179-84.
14. Germain DP, Guigliani R, Hughes DA et al. Safety and pharmacodynamic effects of a pharmacological chaperone on alpha-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies. Orphanet J Rare Dis 2012; 7: 91.
15. Laurence DR. Clinical Pharmacology, 3rd edn.London: Churchill, 1966.