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Gene Therapy for Fabry Disease: A Review of the Literature

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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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Acknowledgements

This work was supported by the Basque Government’s Department of Education, Universities and Investigation (IT-341-10). We would also like to thank the Basque Government for the research grant awarded to A.P. Ruiz de Garibay. The authors have no conflicts of interest that are directly relevant to the content of this article.

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  1. Pharmacokinetics, Nanotechnology and Gene Therapy Group, Pharmacy Faculty, University of the Basque Country (UPV-EHU), Paseo de la Universidad 7, 01006, Vitoria-Gasteiz, Spain

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

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  1. Aritz Perez Ruiz de Garibay
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Correspondence to Alicia Rodríguez-Gascón.

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Ruiz de Garibay, A.P., Solinís, M.Á. & Rodríguez-Gascón, A. Gene Therapy for Fabry Disease: A Review of the Literature. BioDrugs 27, 237–246 (2013). https://doi.org/10.1007/s40259-013-0032-7

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