The landscape of current and future therapeutic opportunities for Fabry disease

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

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