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Intervention Review

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Enzyme replacement therapy for Anderson-Fabry disease

  1. Regina P El Dib1,*,
  2. Paulo Nascimento2,
  3. Gregory M Pastores3

Editorial Group: Cochrane Cystic Fibrosis and Genetic Disorders Group

Published Online: 28 FEB 2013

Assessed as up-to-date: 12 DEC 2012

DOI: 10.1002/14651858.CD006663.pub3


How to Cite

El Dib RP, Nascimento P, Pastores GM. Enzyme replacement therapy for Anderson-Fabry disease. Cochrane Database of Systematic Reviews 2013, Issue 2. Art. No.: CD006663. DOI: 10.1002/14651858.CD006663.pub3.

Author Information

  1. 1

    Botucatu Medical School, Universidade Estadual Paulista (UNESP), Botucatu, São Paulo, Brazil

  2. 2

    UNESP - Univ Estadual Paulista, Botucatu, São Paulo, Brazil

  3. 3

    New York University School of Medicine, Neurogenetics Laboratory, New York, New York, USA

*Regina P El Dib, Botucatu Medical School, Universidade Estadual Paulista (UNESP), Distrito de Rubião Júnior, s/n, Botucatu, São Paulo, 18603-970, Brazil. eldib@fmb.unesp.br. re.lucci@terra.com.br.

Publication History

  1. Publication Status: New search for studies and content updated (no change to conclusions)
  2. Published Online: 28 FEB 2013

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This is not the most recent version of the article. View current version (25 JUL 2016)

References

References to studies included in this review

  1. References to studies included in this review
  2. References to studies excluded from this review
  3. Additional references
  4. References to other published versions of this review
Banikazemi 2007 {published data only}
  • Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Annals of Internal Medicine 2007;146(2):77-86.
Bierer 2006 {published data only}
  • Bierer G, Balfe D, Wilcox WR, Mosenifar Z. Improvement in serial cardiopulmonary exercise testing following enzyme replacement therapy in Fabry disease. Journal of Inherited Metabolic Disease 2006;29(4):572-9.
  • Bierer G, Wilcox WR, Balfe D, Mosenifar Z. Improvement in cardiopulmonary exercise testing during enzyme replacement therapy in fabry disease [Abstract]. American Thoracic Society International Conference; 2005. 2005:[B65] [Poster: A45].
Eng 2001 {published data only}
  • Desnick RJ. International Fabry Disease Study Group. Enzyme therapy for Fabry disease [abstract]. Journal of Inherited Metabolic Disease 2001;24:774.
  • Desnick RJ, International Fabry Study Group. Fabry disease enzyme therapy: phase 3 and extension results [abstract]. Journal of Inherited Metabolic Disease 2001;24(Suppl 1):98.
  • Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, International Collaborative Fabry Disease Study Group, et al. Safety and efficacy of recombinant human alpha-galactosidase A - replacement therapy in Fabry's disease. New England Journal of Medicine 2001;345(1):9-16.
  • Lee P, Banikazemi M, Guffon N, Wilcox WR, Waldek S, Germain DP, et al. Severe glomerulosclerosis and proteinuria may influence response to therapy in fabry disease [abstract]. Journal of Inherited Metabolic Disease 2003;26 Suppl 2:158.
  • Linthorst GE, Aerts JMFG, Bosman DK, Heymans HSA, Hollack CEM. Aenzyme-supplementation therapy for Fabry disease: first possible treatment [abstract]. The Netherlands Journal of Medicine 2001;58:A22.
  • Thurberg BL, Byers RH, Granter SR, Phelps RG, Gordon RE, O'Callaghan M. Monitoring the 3-year efficacy of enzyme replacement therapy in fabry disease by repeated skin biopsies. Journal of Investigative Dermatology 2004;122(4):900-8.
  • Thurberg BL, Phelps R, Granter S, Byers R, Gordon RE, O'Callaghan M. Fabrazyme clears globotriaosylceramide from the skin of fabry patients [abstract]. Journal of Inherited Metabolic Disease 2003;26 Suppl 2:174.
  • Thurberg BL, Rennke H, Colvin RB, Dikman S, Gordon RE, Collins AB, et al. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney International 2002;62(6):1933-46.
  • Waldek S, Germain D P, Banikazemi M, Guffon N, Lee P, Linthorst G, et al. Stabilization of renal function after enzyme replacement therapy in Fabry Disease [abstract]. Nephrology Dialysis Transplantation 2003;18 Suppl 4:630.
  • Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE, et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. American Journal of Human Genetics 2004;75(1):65-74.
Hughes 2008 {published data only}
  • Hajioff D, Enever Y, Quiney R, Zuckerman J, Mackermot K, Mehta A. Hearing loss in Fabry disease: the effect of agalsidase alfa replacement therapy. Journal of Inherited Metabolic Disease 2003;26(8):787-94.
  • Hajioff D, Goodwin S, Quiney R, Zuckerman J, MacDermot KD, Mehta A. Hearing improvement in patients with Fabry disease treated with agalsidase alfa. Acta Paediatrica 2003;92(443):28-30.
  • Hajioff D, Quiney RE, Zuckerman J, McDermott K Mehta A. Hearing loss in Fabry's disease: the effect of alpha-galactosidase A replacement therapy [abstract]. Annals of Neurology 2003;54 Suppl 7:S26.
  • Hughes DA, Elliott PM, Shah J, Zuckerman J, Coghlan G, Brookes J, et al. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa. Heart 2008;94(2):153-8.
Schiffmann 2001 {published data only}
  • Moore DF, Altarescu G, Herscovitch P, Schiffmann R. Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease. BMC Neurology 2002;2:4.
  • Moore DF, Altarescu G, Ling GS, Jeffries N, Frei KP, Weibel T, et al. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke 2002;33(2):525-31.
  • Moore DF, Scott LTC, Gladwin MT, Altarescu G, Kaneski C, Suzuki K, et al. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation 2001;104(13):1506-12.
  • Schiffmann R, Hauer P, Freeman B, Ries M, Scott LJ, Polydefkis M, et al. Enzyme replacement therapy and intraepidermal innervation density in Fabry disease. Muscle Nerve 2006;34(1):53-6.
  • Schiffmann R, Kopp JB, Austin HA, Sabnis S, Moore DF, Weibel T, et al. Clinical effect of enzyme replacement in Fabry disease [abstract]. Journal of Inherited Metabolic Disease 2001;24(7):775.
  • Schiffmann R, Kopp JB, Austin HA, Sabnis S, Moore DF, Weibel T, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001;285(21):2743-9.
Vedder 2007 {published data only}
  • Vedder AC, Linthorst GE, Houge G, Groener JE, Ormel EE, Bouma BJ, et al. Online CONSORT checklist S1 to 'Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg' [online]. PLoS One 2007; Vol. 2, issue 7:e598.
  • Vedder AC, Linthorst GE, Houge G, Groener JE, Ormel EE, Bouma BJ, et al. Online supporting information to 'Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg' [online]. PLoS One 2007; Vol. 2, issue 7:e598.
  • Vedder AC, Linthorst GE, Houge G, Groener JE, Ormel EE, Bouma BJ, et al. Online trial treatment protocol S1 to 'Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg' [online]. PLoS One 2007; Vol. 2, issue 7:e598.
  • Vedder AC, Linthorst GE, Houge G, Groener JE, Ormel EE, Bouma BJ, et al. Online trial treatment protocol S2 to 'Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg' [online]. PLoS One 2007; Vol. 2, issue 7:e598.
  • Vedder AC, Linthorst GE, Houge G, Groener JE, Ormel EE, Bouma BJ, et al. Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. PLoS One 2007;2(7):e598.

References to studies excluded from this review

  1. References to studies included in this review
  2. References to studies excluded from this review
  3. Additional references
  4. References to other published versions of this review
Alamartine 2005 {published data only}
Banikasemi 2005 {published data only}
Beck 2004 {published data only}
Beer 2006 {published data only}
  • Beer M, Weidemann F, Breunig F, Knoll A, Koeppe S, Machann W, et al. Impact of enzyme replacement therapy on cardiac morphology and function and late enhancement in Fabry's cardiomyopathy. American Journal of Cardiology 2006;97(10):1515-8.
Breunig 2006 {published data only}
Cartwright 2004 {published data only}
Elliott 2006 {published data only}
  • Elliott PM, Kindler H, Shah JS, Sachdev B, Rimoldi OE, Thaman R, et al. Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alpha galactosidase A. Heart 2006;92(3):357-60.
Eto 2005 {published data only}
  • Eto Y, Ohashi T, Utsunomiya Y, Fujiwara M, Mizuno A, Inui K, et al. Enzyme replacement therapy in Japanese Fabry disease patients: the results of a phase 2 bridging study. Journal of Inherited Metabolic Disease 2005;28(4):575-83.
Fernhoff 2011 {published data only}
  • Fernhoff P, Goker-Alpan O, Holida M, Nedd K, Barshop BA, Mardach R, et al. Safety and tolerability of agalsidase alfa in patients with Fabry disease formerly treated with agalsidase beta. Journal of Inherited Metabolic Disease 2011;34(Suppl 3):S227.
Germain 2007 {published data only}
  • Germain DP, Waldek S, Banikazemi M, Bushinsky DA, Charrow J, Desnick RJ, et al. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. Journal of the American Society of Nephrology 2007;18(5):1547-57.
Guffon 2002 {published data only}
  • Guffon N. The clinical benefit of Fabrazyme treatment [abstract]. Journal of Inherited Metabolic Disease 2002;25 Suppl 1:116.
Guffon 2004 {published data only}
Hajioff 2006 {published data only}
Hilz 2004 {published data only}
Jardim 2006 {published data only}
  • Jardim LB, Gomes I, Netto CB, Nora DB, Matte US, Pereira F, et al. Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease. Journal of Inherited Metabolic Disease 2006;29(5):653-9.
Jardim 2006b {published data only}
  • Jardim LB, Aesse F, Vedolin LM, Pitta-Pinheiro C, Marconato J, Burin MG, et al. White matter lesions in Fabry disease before and after enzyme replacement therapy: a 2-year follow-up. Arquivos de Neuro-Psiquiatria 2006;64(3B):711-7.
Kalliokoshi 2006 {published data only}
  • Kalliokoshi RJ, Kantola I, Kalliokoshi KK, Engblom E, Sundell J, Hannujainen JC, et al. The effect os 12-month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease. Journal of Inherited Metabolic Disease 2006;29:112-8.
Kampmann 2002 {published data only}
  • Kampmann C, Ries M, Bahner F, Kim KS, Bajbouj M, Beck M. Influence of enzyme replacement therapy (ERT) on Anderson Fabry disease associated hypertrophic infiltrative cardiomyopathy (HIC). European Journal of Pediatrics 2002;161(2):R5.
Kobayashi 2005 {published data only}
  • Kobayashi M, Ida H, Ohashi T, Eto Y. Safety of enzyme replacement therapy among 20 Japanese patients with classical type of Fabry disease [abstract]. Journal of Inherited Metabolic Disease 2005;28 Suppl 1:166.
Kosch 2004 {published data only}
  • Kosch M, Koch H-G, Oliveira JP, Soares C, Bianco F, Breuning F, et al. Enzyme replacement therapy administered during hemodialysis in patients with Fabry disease. Kidney International 2004;66(3):1279-82.
Linthorst 2004 {published data only}
  • Linthorst GE, Hollak CE, Donker-Koopman WE, Strijland A, Aerts JM. Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta. Kidney International 2004;66(4):1589-95.
Linthorst 2006 {published data only}
  • Linthorst Ge, Vedder AC, Ormel EE, Johannes AMFG, Hollak CEM. Home treatment for Fabry disease: practice guidelines based on 3 years experience in The Netherlands. Nephrology, Dialysis, Transplantation 2006;21:355-360.
Mignani 2004 {published data only}
  • Mignani R, Panichi V, Giudicissi A, Taccola D, Boscaro F, Feletti C, et al. Enzyme replacement therapy with agalsidase beta in kidney transplant patients with Fabry disease: a pilot study. Kidney International 2004;65(4):1381-85.
Mills 2004 {published data only}
  • Mills K, Vellodi A, Morris P, Cooper D, Morris M, Young E, et al. Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease. European Journal of Pediatrics 2004;163:163.
Pisani 2005 {published data only}
  • Pisani A, Spinelli L, Sabbatini M, Andreucci MV, Procaccini D, Abbaterusso C, et al. Enzyme replacement therapy in Fabry disease patients undergoing dialysis: effects on quality of life and organ involvement. American Journal of Kidney Diseases 2005;46(1):120-7.
Ramaswami 2007 {published data only}
Ries 2006 {published data only}
  • Ries M, Clarke JT, Whybra C, Timmons M, Robinson C, Schlaggar BL, et al. Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics 2006;118(3):924-32.
Schiffmann 2003 {published data only}
Schiffmann 2006 {published data only}
  • Schiffmann R, Ries M, Timmons M, Flaherty JT, Brady RO. Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrology, Dialysis, Transplantation 2006;21(2):345-54.
Spinelli 2004 {published data only}
Utsumi 2005 {published data only}
  • Utsumi K, Mitsuhashi F, Asahi K, Sakurazawa M, Arii K, Komaba Y, et al. Enzyme replacement therapy for Fabry disease: morphologic and histochemical changes in the urinary sediments. Clinica Chimica Acta 2005;360(1-2):103-7.
Weidemann 2003 {published data only}
  • Weidemann F, Breunig F, Beer M, Sandstede J, Turschner O, Voelker W, et al. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation 2003;108(11):1299-301.
West 2011 {published data only}
  • West M, Bichet D, Casey R, Clarked J, Sirrs S, LeMoine K, et al. Agalsidase alfa and agalsidase beta have similar effects on outcomes in Fabry disease – results from the Canadian Fabry disease initiative. Molecular Genetics and Metabolism 2011;102:S3–S47.

Additional references

  1. References to studies included in this review
  2. References to studies excluded from this review
  3. Additional references
  4. References to other published versions of this review
Aerts 2008
  • Aerts JM, Groener JE, Kuiper S, Donker-Koopman WE, Strijland A, Ottenhoff R, et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proceedings of the National Academy of Sciences of the United States of America 2008;105(8):2812-7.
Elbourne 2002
  • Elbourne DR, Altman DG, Higgins JPT, Curtin F, Worthington HV, Vail A. Meta-analyses involving cross-over trials: methodological issues. International Journal of Epidemiology 2002;31(1):140-9.
Higgins 2003
Higgins 2011
  • Higgins JPT, Green S (editors). Cochrane Handbook for Systematic Reviews of Interventions Version 5.0.1 (updated March 2011). The Cochrane Collaboration, 2011. Available from www.cochrane-handbook.org 20011.
Hollack 2009
Jones 2009
Meikle 1999
Ries 2007
Smith 2000
Spada 2006
  • Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, et al. High incidence of later-onset Fabry disease revealed by newborn screening. American Journal of Human Genetics 2006;79(1):31-40.
Sterne 2001
  • Sterne JAC, Egger M, Davey Smith G. Investigating and dealing with publication and other biases. In: Egger M, Davey Smith G, Altman DG editor(s). Systematic Reviews in Health Care. London: BMJ Publishing Group, 2001:189-208.
Tang 2000
Thornton 2000
Wang 2007
  • Wang RY, Lelis A, Mirocha J, Wilcox WR. Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genetics in Medicine 2007;9(1):34-45.
Wilcox 2008
  • Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Molecular Genetics and Metabolism 2008;93(2):112-28.
Wraith 2008
  • Wraith JE, Tylki-Szymanska A, Guffon N, Lien YH, Tsimaratos M, Vellodi A, et al. Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. Journal of Pediatrics 2008;152(4):563-70.

References to other published versions of this review

  1. References to studies included in this review
  2. References to studies excluded from this review
  3. Additional references
  4. References to other published versions of this review
El Dib 2010