Management of fabry disease with agalsidase treatment

Fabry disease is an X-linked lysosomal storage disorder that is caused by a defciency in the enzyme α-galactosidase A. It results in a progressive multi systemic disorder with major organ involvement (principally renal, cardiac and cerebrovascular) as well as peripheral and autonomic nervous system leading to a poor quality of life, and early death. Enzyme replacement therapy with α-galactosidase A has been used to treat Fabry disease since 2001. Two preparations of the enzyme are available: agalsidase alfa, produced in a human cell line, and agalsidase beta, produced in Chinese hamster ovary cells. Both products have a similar composition, mechanism of action and pharmacokinetic profle however major differences exist in the recommended dose, immunogenicity and rate of adverse reactions. Several clinical trials with the two enzyme preparations have assessed clinical effcacy with respect to impact of treatment on kidney function, cardiomyopathy, pain control and quality of life. Both preparations appear to be broadly equivalent. It has not yet been established that early initiation of enzyme replacement therapy (ERT) can prevent the emergence of disease manifestations. This review will cover the main aspects of clinical safety and effcacy of ERT for Fabry disease. © the author(s), publisher and licensee Libertas Academica Ltd.