RESEARCH ARTICLE


Fabry Disease – Current Treatment and New Drug Development



Omid Motabar1, Ellen Sidransky*, 1, Ehud Goldin1, Wei Zheng*, 2
1 Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, MSC 3708, Bethesda, MD 20894-3708, USA
2 NIH Chemical Genomics Center, National Human Genome Research Institute, 9800 Medical Center Drive, MSC 3370, Bethesda, MD 20892-3370, USA


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© Motabar et al.; Licensee Bentham Open.

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.

* Address correspondence to these authors at the Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, MSC 3708, Bethesda, MD 20894-3708, USA; Tel: 301-496-0373; Fax: 301-402-6438; E-mail: sidranse@irp.nimh.nih.govCorrespondence: NIH Chemical Genomics Center, NHGRI, NIH, 9800 Medical Center Drive, MSC 3370, Bethesda, MD 20892-3370, USA; Tel: 301-217-5720; Fax: 301-217-5728; E-mail: wzheng@mail.nih.gov


Abstract

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.

Keywords: Fabry Disease, Alpha-Galactosidase, Lysosomal Storage Disorders, Chaperone Therapy, High Throughput Screening, Drug Development.