Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with fabry disease

Journal of Medical Genetics

Volumn 52, Issue 5, 2015, Pages 353-358

  Germain, Dominique P ^a,b   Charrow, Joel ^c   Desnick, Robert J ^d   Guffon, Nathalie ^e   Kempf, Judy ^f   Lachmann, Robin H ^g   Lemay, Roberta ^f   Linthorst, Gabor E ^h   Packman, Seymour ⁱ   Ronald Scott, C ^j   Waldek, Stephen ^k   Warnock, David G ^l   Weinreb, Neal J ^m   Wilcox, William R ⁿ  

^a LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^b ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^c NORTHWESTERN UNIVERSITY   (United States)

^d MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^e HOSPICES CIVILS DE LYON   (France)

^f GENZYME CORPORATION   (United States)

^g NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^h ACADEMIC MEDICAL CENTER   (Netherlands)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

^j UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^k Independent Consultant   (United Kingdom)

^l University of Alabama at Birmingham   (United States)

^m University Research Foundation for Lysosomal Storage Diseases   (United States)

ⁿ EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AGALSIDASE BETA; GLOBOTRIAOSYLCERAMIDE; ALPHA GALACTOSIDASE; ISOENZYME; RECOMBINANT PROTEIN;

ARTICLE; CEREBROVASCULAR ACCIDENT; CREATININE URINE LEVEL; DISEASE COURSE; EARLY DIAGNOSIS; ENZYME REPLACEMENT; FABRY DISEASE; FEMALE; FOLLOW UP; GLOMERULOSCLEROSIS; GLOMERULUS FILTRATION RATE; HEART INFARCTION; HEART LEFT VENTRICLE WALL; HEART VENTRICLE SEPTUM; HUMAN; KIDNEY FUNCTION; KIDNEY INJURY; MAJOR CLINICAL STUDY; MALE; OUTCOME ASSESSMENT; PHASE 3 CLINICAL TRIAL (TOPIC); PRIORITY JOURNAL; PROTEIN URINE LEVEL; PROTEINURIA; ADOLESCENT; ADULT; CLINICAL TRIAL; COMPLICATION; GENETICS; KIDNEY DISEASES; MIDDLE AGED; MULTICENTER STUDY; PATHOPHYSIOLOGY; PHASE 3 CLINICAL TRIAL; TREATMENT OUTCOME; YOUNG ADULT;

ADOLESCENT; ADULT; ALPHA-GALACTOSIDASE; ENZYME REPLACEMENT THERAPY; FABRY DISEASE; FEMALE; FOLLOW-UP STUDIES; HUMANS; ISOENZYMES; KIDNEY DISEASES; MALE; MIDDLE AGED; RECOMBINANT PROTEINS; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84930615574     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102797     Document Type: Article

References (27)

1. Germain DP. Fabry disease. Orphanet J Rare Dis2010;5:30.
2. Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant2009;24:2102-11.
3. Tøndel C, Bostad L, Hirth A, Svarstad E. Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. Am J Kidney Dis2008;51:767-76.
4. Colombi A, Kostyal A, Bracher R, Gloor F, Mazzi R, Tholen H. Angiokeratoma corporis diffusum-Fabry's disease. Helv Med Acta1967;34:67-83.
5. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet2001;38:750-60.
6. Ortiz A, Cianciaruso B, Cizmarik M, Germain DP, Mignani R, Oliveira JP, Villalobos J, Vujkovac B, Waldek S, Wanner C, Warnock DG. End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry. Nephrol Dial Transplant2010;25:769-75.
7. Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke2009;40:788-94.
8. Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab2008;93:112-28.
9. Germain DP, Echevarria L. Tissue-specific X chromosome inactivation studies as a decision-making criteria for enzyme replacement therapy in female heterozygotes for Fabry disease. Mol Genet Metab2014;111:S45.
10. Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ. Safety and efficacy of recombinant human alphagalactosidase A-replacement therapy in Fabry's disease. N Engl J Med2001;345:9-16.
11. Germain DP, Waldek S, Banikazemi M, Bushinsky DA, Charrow J, Desnick RJ, Lee P, Loew T, Vedder AC, Abichandani R, Wilcox WR, Guffon N. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol2007;18:1547-57.
12. Schiffmann R, Kopp JB, Austin HA III, Sabnis S, Moore DF, Weibel T, Balow JE, Brady RO. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA2001;285:2743-9.
13. Thurberg BL, Rennke H, Colvin RB, Dikman S, Gordon RE, Collins AB, Desnick RJ, O'Callaghan M. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int2002;62:1933-46.
14. Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE, Desnick RJ, Germain DP. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Human Genet2004;75:65-74.
15. Kent DM, Jafar TH, Hayward RA, Tighiouart H, Landa M, de Jong P, de Zeeuw D, Remuzzi G, Kamper AL, Levey AS. Progression risk, urinary protein excretion, and treatment effects of angiotensin-converting enzyme inhibitors in nondiabetic kidney disease. J Am Soc Nephrol2007;18:1959-65.
16. Mehta A, Clarke JT, Giugliani R, Elliott P, Linhart A, Beck M, Sunder-Plassmann G. Natural course of Fabry disease: changing pattern of causes of death in FOS-Fabry Outcome Survey. J Med Genet2009;46:548-52.
17. Vedder AC, Linthorst GE, van Breemen MJ, Groener JE, Bemelman FJ, Strijland A, Mannens MM, Aerts JM, Hollak CE. The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels. J Inherit Metab Dis2007;30:68-78.
18. Lindeman RD, Tobin J, Shock NW. Longitudinal studies on the rate of decline in renal function with age. J Am Geriatr Soc1985;33:278-85.
19. Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, Finkel R, Packman S, Bichet DG, Warnock DG, Desnick RJ. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med2007;146:77-86.
20. Germain DP, Weidemann F, Abiose A, Patel MR, Cizmarik M, Cole JA, Beitner-Johnson D, Benistan K, Cabrera G, Charrow J, Kantola I, Linhart A, Nicholls K, Niemann M, Scott CR, Sims K, Waldek S, Warnock DG, Strotmann J. Analysis of left ventricular mass in untreated men and in men treated with agalsidase-beta:data from the Fabry Registry. Genet Med2013;15:958-65.
21. Tøndel C, Bostad L, Larsen KK, Hirth A, Vikse BE, Houge G, Svarstad E. Agalsidase benefits renal histology in young patients with Fabry disease. J Am Soc Nephrol2013;24:137-48.
22. 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 Dis2013;8:47.
23. Weidemann F, Niemann M, Stork S, Breunig F, Beer M, Sommer C, Herrmann S, Ertl G, Wanner C. Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications. J Intern Med2013;274:331-41.
24. Rombach SM, Smid BE, Linthorst GE, Dijkgraaf MG, Hollak CE. Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis : Effectiveness of ERT in different disease stages. J Inherit Metab Dis2014;37:341-52.
25. Mehta A, Beck M, Elliott P, Giugliani R, Linhart A, Sunder-Plassmann G, Schiffmann R, Barbey F, Ries M, Clarke JT. Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data. Lancet2009;374:1986-96. Erratum in: Lancet 2010;375:200.
26. Ortiz A, Oliveira JP, Wanner C, Brenner BM, Waldek S, Warnock DG. Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults. Nat Clin Pract Nephrol2008;4:327-36.
27. Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, Bultas J, Lee P, Sims K, Brodie SE, Pastores GM, Strotmann JM, Wilcox WR. Fabry disease:guidelines for the evaluation and management of multi-organ system involvement. Genet Med2006;8:539-48.