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01-06-2013 | Review Article

Gene Therapy for Fabry Disease: A Review of the Literature

Authors: Aritz Perez Ruiz de Garibay, María Ángeles Solinís, Alicia Rodríguez-Gascón

Published in: BioDrugs | Issue 3/2013

Abstract

Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme, α-galactosidase A. The lack of adequate enzymatic activity results in a systemic accumulation of neutral glycosphingolipids, predominantly globotriaosylceramide, in the lysosomes of, especially, endothelial and smooth muscle cells of blood vessels. Enzyme replacement therapy is at present the only available specific treatment for Fabry disease; however, this therapy has important drawbacks. Gene-mediated enzyme replacement is a reasonable and highly promising approach for the treatment of Fabry disease. It corresponds to a single gene disorder in which moderately low levels of enzyme activity should be sufficient for clinical efficacy and, thanks to cross-correction mechanisms, the transfection of a small number of cells will potentially correct distant cells too. This article summarizes the studies that have been carried out concerning gene therapy for the treatment of Fabry disease. We briefly review the literature from earlier studies in the 1990s to the current achievements.

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Title: Gene Therapy for Fabry Disease: A Review of the Literature
Authors: Aritz Perez Ruiz de Garibay
María Ángeles Solinís
Alicia Rodríguez-Gascón
Publication date: 01-06-2013
Publisher: Springer International Publishing AG
Published in: BioDrugs / Issue 3/2013
Print ISSN: 1173-8804
Electronic ISSN: 1179-190X
DOI: https://doi.org/10.1007/s40259-013-0032-7

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Springer Medicine

Gene Therapy for Fabry Disease: A Review of the Literature

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Keynote webinar | Spotlight on medication adherence

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