Agalsidase alfa in the treatment of anderson-fabry disease

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. © 2010 Springer Science+Business Media B.V.