Michael Beck1. 1. University of Mainz, Children's Hospital, Langenbeckstrasse 1, 55101 Mainz, Germany. beck@kinder.klinik.uni-mainz.de
Abstract
BACKGROUND: Fabry disease is an X-linked disease caused by the deficiency of the lysosomal enzyme alpha-galactosidase A. The lack of enzyme activity leads to progressive depositions of undegraded glycolipids in a great number of organs, resulting in a multisystemic disorder. OBJECTIVES: Enzyme replacement therapy is available for patients with Fabry disease. Two enzyme preparations have been approved in the European Union by the European Agency for the Evaluation of Medicinal Products (EMEA): agalsidase beta (Fabrazyme, Genzyme Corporation), produced in Chinese hamster ovary cells; and agalsidase alfa (Replagal, Shire Human Genetic Therapies, Inc.), produced in human cell lines. METHODS: This review details the latest reports regarding the clinical efficacy and tolerability of agalsidase alfa in patients with Fabry disease. RESULTS: Agalsidase alfa was shown to be effective in treating pain and in reducing heart size in patients with Fabry disease, to stabilize kidney function and to improve hearing, sweating and quality of life. It is able slow down progression of renal failure in patients with end-stage renal disease.
BACKGROUND:Fabry disease is an X-linked disease caused by the deficiency of the lysosomal enzyme alpha-galactosidase A. The lack of enzyme activity leads to progressive depositions of undegraded glycolipids in a great number of organs, resulting in a multisystemic disorder. OBJECTIVES: Enzyme replacement therapy is available for patients with Fabry disease. Two enzyme preparations have been approved in the European Union by the European Agency for the Evaluation of Medicinal Products (EMEA): agalsidase beta (Fabrazyme, Genzyme Corporation), produced in Chinese hamster ovary cells; and agalsidase alfa (Replagal, Shire Human Genetic Therapies, Inc.), produced in human cell lines. METHODS: This review details the latest reports regarding the clinical efficacy and tolerability of agalsidase alfa in patients with Fabry disease. RESULTS:Agalsidase alfa was shown to be effective in treating pain and in reducing heart size in patients with Fabry disease, to stabilize kidney function and to improve hearing, sweating and quality of life. It is able slow down progression of renal failure in patients with end-stage renal disease.