Advertisement

Effects of Switching from Agalsidase Beta to Agalsidase Alfa in 10 Patients with Anderson-Fabry Disease

  • A. Pisani
  • L. Spinelli
  • B. Visciano
  • I. Capuano
  • M. Sabbatini
  • E. Riccio
  • G. Messalli
  • M. Imbriaco
Research Report
Part of the JIMD Reports book series (JIMD, volume 9)

Abstract

Anderson-Fabry disease (AFD) is a multiorgan X-linked lysosomal storage disease that particularly affects the heart, kidneys, and cerebrovascular system. Current treatment is enzyme replacement therapy (ERT) with agalsidase beta (Fabrazyme®, Genzyme Corporation, Cambridge, MA, USA) or agalsidase alfa (Replagal®, Shire Human Genetic Therapies AB, Lund, Sweden). It was recommended that patients switch to agalsidase alfa due to a manufacturing shortage of agalsidase beta beginning in June 2009. This study assessed the effect of switching to agalsidase alfa on clinical outcomes in patients with AFD previously treated with agalsidase beta. Ten patients (seven male, three female) with genetically confirmed AFD and at least 48 months’ continuous data collected during treatment with agalsidase beta 1 mg/kg every other week were switched to agalsidase alfa 0.2 mg/kg every other week for at least 20 months, with prospective clinical evaluations every 6 months. Pre-switch data was collected retrospectively from patient charts. Cardiac functional parameters were assessed using magnetic resonance imaging. Results showed that renal function was normal (estimated glomerular filtration rate ≥90 mL/min/1.73 m2) in 8 of 10 patients prior to agalsidase alfa and generally remained stable after the switch. Cardiac mass decreased significantly (p < 0.05 vs pre-ERT) after agalsidase beta and remained unchanged after switching to agalsidase alfa. Symptoms of pain and health status scores did not deteriorate during agalsidase alfa therapy. Adverse events were mostly mild and infusion related. In conclusion, switching to agalsidase alfa was relatively well tolerated and associated with stable clinical status and preserved renal and cardiac function.

References

  1. Banikazemi M, Bultas J, Waldek S et al (2007) Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 146(2):77–86CrossRefPubMedGoogle Scholar
  2. Beck M, Ricci R, Widmer U et al (2004) Fabry disease: overall effects of agalsidase alfa treatment. Eur J Clin Invest 34(12):838–844CrossRefPubMedGoogle Scholar
  3. Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L (1967) Enzymatic defect in Fabry’s disease. Ceramidetrihexosidase deficiency. N Engl J Med 276(21):1163–1167CrossRefPubMedGoogle Scholar
  4. Branton M, Schiffmann R, Kopp JB (2002) Natural history and treatment of renal involvement in Fabry disease. J Am Soc Nephrol 13(Suppl 2):S139–143PubMedGoogle Scholar
  5. ClinicalTrials.gov. (2012) The efficacy and safety of switch between agalsidase beta to agalsidase alfa for enzyme replacement in patients with Anderson-Fabry disease (SWITCH). Accessed 3 September 2012, from www.clinicaltrials.gov/ct2/show/NCT01268241
  6. Desnick R, Ioannou Y, Eng C (2001) Alpha-galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3733–3774Google Scholar
  7. Desnick RJ, Allen KY, Desnick SJ, Raman MK, Bernlohr RW, Krivit W (1973) Fabry’s disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes. J lLab Clin Med 81(2):157–171Google Scholar
  8. Eng CM, Guffon N, Wilcox WR et al (2001) Safety and efficacy of recombinant human alpha-galactosidase A–replacement therapy in Fabry’s disease. N Engl J Med 345(1):9–16CrossRefPubMedGoogle Scholar
  9. European Medicines Agency (2009) Questions and answers on the shortages of Cerezyme and Fabrazyme. Accessed 1 June 2012, from http://www.emea.europa.eu/docs/en_GB/document_library/Medicine_QA/2009/12/WC500018393.pdf
  10. European Medicines Agency (2010) Assessment report for Fabrazyme agalsidase beta. Accessed 1 June 2012, from www.ema.europa.eu/docs/en_GB/document_library/Other/2010/11/wc500099241.pdf
  11. European Medicines Agency (2010) European Medicines Agency reviews treatment recommendations for Fabrazyme. Accessed 1 June 2012, from http://www.ema.europa.eu/ema/index.jsp?curl=pages/news_and_events/news/2010/10/news_detail_001136.jsp&mid=WC0b01ac058004d5c1
  12. Feriozzi S, Torras J, Cybulla M et al (2012) The effectiveness of long-term agalsidase alfa therapy in the treatment of Fabry nephropathy. Clin J Am Soc Nephrol 7(1):60–69CrossRefPubMedGoogle Scholar
  13. Germain DP, Waldek S, Banikazemi M et al (2007) Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 18(5):1547–1557CrossRefPubMedGoogle Scholar
  14. Hughes DA, Elliott PM, Shah J et al (2008) Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa. Heart 94(2):153–158CrossRefPubMedGoogle Scholar
  15. Imbriaco M, Pisani A, Spinelli L et al (2009) Effects of enzyme-replacement therapy in patients with Anderson-Fabry disease: a prospective long-term cardiac magnetic resonance imaging study. Heart 95(13):1103–1107CrossRefPubMedGoogle Scholar
  16. Ioannou YA, Zeidner KM, Gordon RE, Desnick RJ (2001) Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice. Am J Hum Genet 68(1):14–25CrossRefPubMedGoogle Scholar
  17. Kampmann C, Linhart A, Baehner F et al (2008) Onset and progression of the Anderson-Fabry disease related cardiomyopathy. Int J Cardiol 130(3):367–373CrossRefPubMedGoogle Scholar
  18. Koskenvuo JW, Hartiala JJ, Nuutila P et al (2008) Twenty-four-month alpha-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters. J Inherit Metab Dis 31(3):432–441CrossRefPubMedGoogle Scholar
  19. Kovacevic-Preradovic T, Zuber M, Attenhofer Jost CH et al (2008) Anderson-Fabry disease: long-term echocardiographic follow-up under enzyme replacement therapy. Eur J Echocardiogr 9(6):729–735CrossRefPubMedGoogle Scholar
  20. Levey AS, Bosch JP, Lewis JB, Greene T, Rogers N, Roth D (1999) A more accurate method to estimate glomerular filtration rate from serum creatinine: a new prediction equation. Modification of Diet in Renal Disease Study Group. Ann Intern Med 130(6):461–470CrossRefPubMedGoogle Scholar
  21. Lidove O, West ML, Pintos-Morell G et al (2010) Effects of enzyme replacement therapy in Fabry disease–a comprehensive review of the medical literature. Genet Med 12(11):668–679CrossRefPubMedGoogle Scholar
  22. Linhart A (2008) Treatment of Anderson-Fabry disease. Heart 94(2):138–139CrossRefPubMedGoogle Scholar
  23. Linhart A, Elliott PM (2007) The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart 93(4):528–535CrossRefPubMedPubMedCentralGoogle Scholar
  24. Linthorst GE, Germain DP, Hollak CE et al (2011) Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT). Mol Genet Metab 102(1):99–102CrossRefPubMedGoogle Scholar
  25. Linthorst GE, Hollak CEM, Donker-Koopman WE, Strijland A, Aerts JMFG (2004) Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta. Kidney Int 66(4):1589–1595CrossRefPubMedGoogle Scholar
  26. Mehta A, Beck M, Elliott P et al (2009) Enzyme replacement therapy with agalsidase alfa in patients with Fabry’s disease: an analysis of registry data. Lancet 374(9706):1986–1996CrossRefPubMedGoogle Scholar
  27. Mehta A, West ML, Pintos-Morell G et al (2010) Therapeutic goals in the treatment of Fabry disease. Genet Med 12(11):713–720CrossRefPubMedGoogle Scholar
  28. Melzack R (1987) The short-form McGill pain questionnaire. Pain 30(2):191–197CrossRefPubMedGoogle Scholar
  29. Morrissey RP, Philip KJ, Schwarz ER (2011) Cardiac abnormalities in Anderson-Fabry disease and Fabry’s cardiomyopathy. Cardiovascular J Africa 22(1):38–44Google Scholar
  30. Oqvist B, Brenner BM, Oliveira JP et al (2009) Nephropathy in Fabry disease: the importance of early diagnosis and testing in high-risk populations. Nephrol Dial Transplant 24(6):1736–1743CrossRefGoogle Scholar
  31. Ortiz A, Oliveira JP, Wanner C, Brenner BM, Waldek S, Warnock DG (2008) Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults. Nat Clin Pract Nephrol 4(6):327–336CrossRefPubMedGoogle Scholar
  32. Schiffmann R, Kopp JB, Austin HA 3rd et al (2001) Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 285(21):2743–2749CrossRefPubMedGoogle Scholar
  33. Smid BE, Rombach SM, Aerts JMFG et al (2011) Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients. Orphanet J Rare Dis 6:69CrossRefPubMedPubMedCentralGoogle Scholar
  34. Tsuboi K, Yamamoto H (2012) Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagel). Genetics Med [Epub ahead of print:doi:101038/gim/2012/39]Google Scholar
  35. Vedder AC, Breunig F, Donker-Koopman WE et al (2008) Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3. Mol Genet Metab 94(3):319–325CrossRefPubMedGoogle Scholar
  36. Ware JE (1997) SF-36 health survey: manual and interpretation guide. The Health Institute, New England Medical Centre, Boston, MAGoogle Scholar
  37. Warnock DG, Daina E, Remuzzi G, West M (2010) Enzyme replacement therapy and Fabry nephropathy. Clin J Am Soc Nephrol 5(2):371–378CrossRefPubMedGoogle Scholar
  38. Weidemann F, Breunig F, Beer M et al (2005) The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease. Eur Heart J 26(12):1221–1227CrossRefPubMedGoogle Scholar
  39. Weidemann F, Breunig F, Beer M et al (2003) Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation 108(11):1299–1301CrossRefPubMedGoogle Scholar
  40. Wilcox WR, Banikazemi M, Guffon N et al (2004) Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 75(1):65–74CrossRefPubMedPubMedCentralGoogle Scholar
  41. Zarate YA, Hopkin RJ (2008) Fabry's disease. Lancet 372(9647):1427–1435CrossRefPubMedGoogle Scholar

Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  • A. Pisani
    • 1
  • L. Spinelli
    • 2
  • B. Visciano
    • 1
  • I. Capuano
    • 1
  • M. Sabbatini
    • 1
  • E. Riccio
    • 1
  • G. Messalli
    • 3
  • M. Imbriaco
    • 3
  1. 1.Department of NephrologyUniversity “Federico II”NapoliItaly
  2. 2.Department of Cardiovascular and Immunological ScienceUniversity “Federico II”NapoliItaly
  3. 3.Department of Biomorphological and Functional ScienceUniversity “Federico II”NapoliItaly

Personalised recommendations