Advances in Fabry Disease: From Molecular Insights to Innovative Therapeutics (2nd Edition)

Dear Colleagues,

Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to insufficient α-galactosidase A enzyme activity. This deficiency causes glycosphingolipids to accumulate in various tissues, affecting the kidneys, heart, skin, and nervous system. Recent research has advanced our understanding of Fabry disease's pathophysiology, clinical manifestations, and treatment options, including enzyme replacement therapy (ERT) and chaperone therapy. However, early diagnosis, disease management, and the development of more effective adjuvants and specific treatments remain challenges.

This Special Issue aims to consolidate cutting-edge research and foster multidisciplinary collaboration to address these challenges. We encourage original research articles and reviews that explore novel diagnostic biomarkers, genetic and molecular basis, and innovative therapeutic approaches. Clinical studies that offer new insights and advancements in imaging findings, patient-reported outcomes, and the long-term efficacy of current treatments are also encouraged.

Dr. Yuri Battaglia
Guest Editor

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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.