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Giliberti et al. J Transl Genet Genom 2024;8:340-54 Journal of Translational
DOI: 10.20517/jtgg.2024.41
Genetics and Genomics

Review Open Access

The landscape of current and future therapeutic
opportunities for Fabry disease

Marica Giliberti, Sara Robles, Giorgia Campilongo, Maria Serena Russo, Vincenzo Di Leo, Loreto
Gesualdo
Nephrology, Dialysis and Transplantation Unit, Department of Emergency and Organ Transplantation, University of Bari Aldo
Moro, Bari 70124, Italy.

Correspondence to: Dr. Marica Giliberti, Nephrology, Dialysis and Transplantation Unit, Department of Emergency and Organ
Transplantation, University of Bari Aldo Moro, Piazza Giulio Cesare 11, Bari 70124, Italy. E-mail: gilibertimarica@gmail.com

How to cite this article: Giliberti M, Robles S, Campilongo G, Serena Russo M, Di Leo V, Gesualdo L. The landscape of current
and future therapeutic opportunities for Fabry disease. J Transl Genet Genom 2024;8:340-54. https://dx.doi.org/10.20517/jtgg.
2024.41

Received: 30 Jul 2024 First Decision: 30 Aug 2024 Revised: 14 Oct 2024 Accepted: 30 Oct 2024 Published: 3 Dec 2024
Academic Editor: Sanjay Gupta Copy Editor: Fangling Lan Production Editor: Fangling Lan

Abstract
Fabry disease is a rare genetic disorder classified as a lysosomal storage disease. It is an X-linked disease, caused
by the mutation of the GLA gene, leading to the deficit or absence of function of the enzyme α-galactosidase A. It is
a multi-organ and progressive disease characterized by systemic involvement primarily affecting the cardiac, renal
and neurological systems. Current treatment options include established therapies such as two enzyme
replacement therapies (agalsidase α, agalsidase β), one chaperone treatment (migalastat), and a recently approved
enzyme replacement therapy targeting pegunigalsidase α. New drugs are being developed, including substrate
reduction therapy, mRNA therapy, and genetic therapy. These emerging treatments have the potential to address
the limitations of current therapies and ensure more effective and personalized treatment. This review explores and
analyzes the diverse therapeutic strategies available for treating this complex and intriguing disease.

Keywords: Fabry disease, treatment, enzyme replacement therapy, chaperone therapy, new drugs

INTRODUCTION
Fabry disease (FD) is caused by mutations in the GLA gene, located on the X chromosome, which encodes
α-galactosidase A (α-GAL A). This genetic anomaly results in the progressive deposition of its substrate,

© The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0
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