Fabry Disease – Current Treatment and New Drug Development
Omid Motabar1, Ellen Sidransky*, 1, Ehud Goldin1, Wei Zheng*, 2
Identifiers and Pagination:Year: 2010
First Page: 50
Last Page: 56
Publisher Id: CCGTM-4-50
Article History:Received Date: 3/4/2010
Revision Received Date: 3/6/2010
Acceptance Date: 14/6/2010
Electronic publication date: 23/7/2010
Collection year: 2010
open-access license: This is an open access article licensed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.
Fabry disease is a rare inherited lysosomal storage disorder caused by a partial or complete deficiency of α-galactosidase A (GLA), resulting in the storage of excess cellular glycosphingolipids. Enzyme replacement therapy is available for the treatment of Fabry disease, but it is a costly, intravenous treatment. Alternative therapeutic approaches, including small molecule chaperone therapy, are currently being explored. High throughput screening (HTS) technologies can be utilized to discover other small molecule compounds, including non-inhibitory chaperones, enzyme activators, molecules that reduce GLA substrate, and molecules that activate GLA gene promoters. This review outlines the current therapeutic approaches, emerging treatment strategies, and the process of drug discovery and development for Fabry disease.