What role does Enzyme replacement therapy play in Fabry disease?
At The Mount Sinai Medical Center, our researchers and clinicians developed enzyme replacement therapy for Fabry disease. Through ongoing efforts in our laboratory, we have been involved in the development of enzyme replacement therapy for Fabry disease for over 30 years. The gene for a-galactosidase A was isolated in our laboratories and was subsequently introduced into a system that manufactures large quantities of the enzyme. This technology is being further refined for the large-scale production of enzyme for human enzyme replacement therapy by the Genzyme Corporation. Extensive preclinical evaluations were carried out in a -Gal A deficient mice and demonstrated that enzyme delivery to the heart and kidney and GL-3 clearance from those organs was dose-dependent. These animal studies provided the rationale for human clinical trials. In 1998, an FDA reviewed Phase 1/ 2 clinical trial was performed at Mount Sinai with 15 Fabry Patients. This study evaluated various enzyme doses and th
