Patients with fabry disease after enzyme replacement therapy dose reduction versus treatment switch

Journal of the American Society of Nephrology

Volumn 25, Issue 4, 2014, Pages 837-849

  Weidemann, Frank ^a   Krämer, Johannes ^a   Duning, Thomas ^c   Lenders, Malte ^d   Canaan Kühl, Sima ^g   Krebs, Alice ^a,b   González, Hans Guerrero ^a,b   Sommer, Claudia ^a,b   Üçeyler, Nurcan ^a,b   Niemann, Markus ^a   Störk, Stefan ^a   Schelleckes, Michael ^d   Reiermann, Stefanie ^d   Stypmann, Jörg ^e   Brand, Stefan Martin ^f   Wanner, Christoph ^a   Brand, Eva ^d  

^a Department of Medicine Divisions of Cardiology and Nephrology Fabry Center for Interdisciplinary Therapy   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c Department of Neurology ^*  (Germany)

^d Department of Nephrology   (Germany)

^e Division of Cardiology   (Germany)

^f UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^g CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; ALBUMIN; CREATINE; ALPHA GALACTOSIDASE; ISOENZYME;

ADULT; ARTICLE; BRAIN FUNCTION; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; DRUG DOSE REDUCTION; DRUG SAFETY; DRUG SUBSTITUTION; ENZYME REPLACEMENT; FABRY DISEASE; FEMALE; GLOMERULUS FILTRATION RATE; HEART ATRIUM FUNCTION; HEART EJECTION FRACTION; HEART LEFT VENTRICLE MASS; HUMAN; HUMAN CELL; HUMAN EXPERIMENT; INTERMETHOD COMPARISON; KIDNEY FUNCTION; LONG TERM CARE; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; PATIENT SAFETY; PHARMACEUTICAL CARE; PRIORITY JOURNAL; RENAL REPLACEMENT THERAPY; RENIN ANGIOTENSIN ALDOSTERONE SYSTEM; AGED; COMPARATIVE STUDY; PATHOPHYSIOLOGY; PROSPECTIVE STUDY;

ADULT; AGED; ALPHA-GALACTOSIDASE; ENZYME REPLACEMENT THERAPY; FABRY DISEASE; FEMALE; GLOMERULAR FILTRATION RATE; HUMANS; ISOENZYMES; MALE; MIDDLE AGED; PROSPECTIVE STUDIES;

EID: 84901311103     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2013060585     Document Type: Article

References (32)

1. Desnick R, lonnou Y, Eng C: Fabry disease: alpha galactosidase A deficiency. In: The metabolic and molecular bases of inherited disease, edited by Scriver C, Beaudet A, Sly W, Valle D, New York, McGraw-Hill, 1995, pp 2741-2784
2. Zarate YA, Hopkin RJ: Fabry's disease. Lancet 372: 1427-1435, 2008
3. Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR: Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138: 338-346, 2003
4. Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, Finkel R, Packman S, Bichet DG, Warnock DG, Desnick RJ; Fabry Disease Clinical Trial Study Group: Agalsidase-beta therapy for advanced Fabry disease: A randomized trial. Ann Intern Med 146: 77-86, 2007
5. EngCM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ; International Collaborative Fabry Disease Study Group: Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease. N Engl J Med 345:9-16, 2001
6. Hughes DA, Elliott PM, Shah J, Zuckerman J, Coghlan G, Brookes J, Mehta AB: Effects of enzyme replacement therapy on the cardiomy-opathy of Anderson-Fabry disease: A randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa. Heart94:153-158, 2008
7. Mehta A, Beck M, Elliott P, Giugliani R, Linhart A, Sunder-Plassmann G, Schiffmann R, Barbey F, Ries M, Clarke JT; Fabry Outcome Survey investigators: Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: An analysis of registry data. Lancet 374: 1986-1996, 2009
8. Schiffmann R, Kopp JB, Austin HA 3rd, Sabnis S, Moore DF, Weibel T, Balow JE, Brady RO: Enzyme replacement therapy in Fabry disease: A randomized controlled trial. JAMA 285: 2743-2749, 2001
9. Wraith JE, Tylki-Szymanska A, Guffon N, Lien YH, Tsimaratos M, Vellodi A, Germain DP: Safety and eficacy of enzyme replacement therapy with agalsidase beta: An international, open-label study in pediatric patients with Fabry disease. J Pediatr 152: 563-570, e1, 2008
10. Tsuboi K, Yamamoto H: Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal). Genet Med 14: 779-786, 2012
11. Linthorst GE, Germain DP, Hollak CE, Hughes D, Rolfs A, Wanner C, Mehta A; European Medicines Agency: Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT). Mol Genet Metab 102: 99-102, 2011
12. Pisani A, Spinelli L, Visciano B, Capuano I, Sabbatini M, Riccio E, Messalli G, Imbriaco M: Effects of switching from agalsidase Beta to agalsidase alfa in 10 patients with andersonfabry disease. JIMD Rep 9: 41-48, 2013
13. Smid BE, Rombach SM, AertsJM, KuiperS, Mirzaian M, Overkleeft HS, Poorthuis BJ, Hollak CE, Groener JE, Linthorst GE: Consequences ofa global enzyme shortage of agalsidase beta in adult Dutch Fabry patients. Orphanet J Rare Dis 6: 69, 2011
14. Weidemann F, Breunig F, Beer M, Sandstede J, Turschner O, Voelker W, Ertl G, Knoll A, Wanner C, Strotmann JM: Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: A prospective strain rate imaging study. Circulation 108: 1299-1301, 2003
15. Weidemann F, Niemann M, Breunig F, Herrmann S, Beer M, Stork S, Voelker W, Ertl G, WannerC, Strotmann J: Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: Evidence for a better outcome with early treatment. Circulation 119: 524-529, 2009
16. Feriozzi S, Torras J, Cybulla M, Nicholls K, Sunder-Plassmann G, West M; FOS Investigators: The effectiveness of long-term agalsidase alfa therapy in the treatment of Fabry nephropathy. Clin J Am Soc Nephrol 7:60-69, 2012
17. 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 Nephrol 18: 1547-1557, 2007
18. West M, Nicholls K, Mehta A, Clarke JTR, Steiner R, Beck M, Barshop BA, Rhead W, Mensah R, Ries M, Schiffmann R: Agalsidasealfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol 20: 1132-1139, 2009
19. Najafian B, Svarstad E, Bostad L, Gubler MC, Tondel C, Whitley C, MauerM: Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease. Kidney Int 79: 663-670, 2011
20. Gansevoort RT, de Jong PE: The case for using albuminuria in staging chronic kidney disease. JAmSoc Nephrol 20: 465-468, 2009
21. Miettinen H, Haffner SM, Lehto S, Rònnemaa T, Pyorsla K, Laakso M: Proteinuria predicts stroke and other atherosclerotic vascular disease events in nondiabetic and non-insulin-dependent diabetic subjects. Stroke 27: 2033-2039, 1996
22. deZeeuw D, Parving HH, Henning RH: Microalbuminuria as an early marker for cardiovascular disease. J Am Soc Nephrol 17: 2100-2105, 2006
23. Linthorst GE, Hollak CE, Donker-Koopman WE, Strijland A, Aerts JM: Enzyme therapy for Fabry disease: Neutralizing antibodies toward agalsidase alpha and beta. Kidney Int 66: 1589-1595, 2004
24. Tanaka A, Takeda T, Hoshina T, Fukai K, Yamano T: Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha. J Inherit Metab Dis 33 [Suppl 3]: S249-S252, 2010
25. Helal I, Fick-Brosnahan GM, Reed-Gitomer B, Schrier RW: Glomerular hyperfiltration: Definitions, mechanisms and clinical implications. Nat Rev Nephrol 8: 293-300, 2012
26. LeveyAS, Stevens LA, Schmid CH, Zhang YL, Castro AF 3rd, Feldman HI, Kusek JW, Eggers P, Van Lente F, Greene T, Coresh J; CKD-EPI (Chronic Kidney Disease Epidemiology Collaboration): A new equation to estimate glomerular filtration rate. Ann Intern Med 150: 604-612, 2009
27. Von Korff M, Ormel J, Keefe FJ, Dworkin SF: Grading the severity of chronic pain. Pain 50: 133-149, 1992
28. SommerC, Richter H, Rogausch JP, Frettlòh J, Lungenhausen M, Maier C: A modified score to identify and discriminate neuropathic pain: A study on the German version of the Neuropathic Pain Symptom Inventory (NPSI). BMC Neurol 11: 104, 2011
29. Rolke R, Baron R, Maier C, Tolle TR, Treede RD, Beyer A, Binder A, Birbaumer N, Birklein F, Botefur IC, Braune S, Flor H, Huge V, Klug R, Landwehrmeyer GB, Magerl W, Maihofner C, Rolko C, Schaub C, Scherens A, Sprenger T, Valet M, Wasserka B: Quantitative sensory testing in the German Research Network on Neuropathic Pain (DFNS): Standardized protocol and reference values. Pain 123: 231-243, 2006
30. Fukuda K, Straus SE, Hickie I, Sharpe MC, Dobbins JG, Komaroff A; International Chronic Fatigue Syndrome Study Group: The chronic fatigue syndrome: A comprehensive approach to its definition and study. AnnInternMed121: 953-959, 1994
31. Giannini EH, Mehta AB, Hilz MJ, Beck M, Bichet DG, Brady RO, West M, Germain DP, WannerC, WaldekS, Clarke JT, Mengel E, Strotmann JM, Warnock DG, Linhart A: A validated disease severity scoring system for Fabry disease. Mol Genet Metab 99: 283-290, 2010
32. Whybra C, Kampmann C, Krummenauer F, Ries M, Mengel E, Miebach E, BaehnerF, Kim K, Bajbouj M, Schwarting A, Gal A, Beck M: The Mainz Severity Score Index: A new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet 65: 299-307, 2004