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Agalsidase Alfa in the Treatment of Anderson-Fabry Disease

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Fabry Disease

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Abstract

Agalsidase alfa is a formulation of the human enzyme α-galactosidase A (AGAL), generated by activation of the encoding gene in a continuous human cell line. The regular infusion of agalsidase alfa into patients with Anderson-Fabry disease (AFD), in whom AGAL deficiency can lead to multi-organ system failure, has been demonstrated to be safe. By facilitating the clearance of the substrate globotriaosylceramide, which accumulates in tissues of affected individuals, agalsidase alfa treatments have resulted in a modification of disease course. These developments are anticipated to lead to improvement in the patient’s health-related quality of life and delay or prevent the development of morbidity related to renal, cardiac and cerebrovascular disease associated with AFD. Therapeutic outcome appears to be influenced by disease stage, and possibly by antibody formation and a putative problem in the intracellular trafficking of the infused enzyme. These premises have led to the recommendation of early intervention, prior to established organ dysfunction.

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Authors and Affiliations

  1. Departments of Neurology and Pediatrics, New York University School of Medicine, New York, NY, USA

    Gregory M. Pastores

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  1. Gregory M. Pastores
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Correspondence to Gregory M. Pastores .

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Editors and Affiliations

  1. , Shaare Zedek Medical Center, Gaucher Clinic, Bayit Street 12, Jerusalem, 91034, Israel

    Deborah Elstein

  2. , Shaare Zedek Medical Center, Genetics Unit, Bayit Street 12, Jerusalem, 91031, Israel

    Gheona Altarescu

  3. University of Mainz, Children's Hospital, Langenbeckstrasse 1, Mainz, 55131, Germany

    Michael Beck

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Pastores, G.M. (2010). Agalsidase Alfa in the Treatment of Anderson-Fabry Disease. In: Elstein, D., Altarescu, G., Beck, M. (eds) Fabry Disease. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-9033-1_25

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  • DOI: https://doi.org/10.1007/978-90-481-9033-1_25

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  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-90-481-9032-4

  • Online ISBN: 978-90-481-9033-1

  • eBook Packages: MedicineMedicine (R0)

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