Fabry disease is a rare inherited lysosomal storage disorder caused by a partial or complete deficiency of α-galactosidase A (GLA), resulting in the storage of excess cellular glycosphingolipids. Enzyme replacement therapy is available for the treatment of Fabry disease, but it is a costly, intravenous treatment. Alternative therapeutic approaches, including small molecule chaperone therapy, are currently being explored. High throughput screening (HTS) technologies can be utilized to discover other small molecule compounds, including non-inhibitory chaperones, enzyme activators, molecules that reduce GLA substrate, and molecules that activate GLA gene promoters. This review outlines the current therapeutic approaches, emerging treatment strategies, and the process of drug discovery and development for Fabry disease.
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| http://dx.doi.org/10.2174/1875397301004010050 | DOI Listing |
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Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease.
Orphanet J Rare Dis
December 2024
Department of Internal Medicine D, and Interdisciplinary Fabry Center (IFAZ), University Hospital Muenster, Muenster, Germany.
Background: The aim of our multicenter study was to investigate the implementation of the European Fabry guidelines on therapeutic recommendations in female patients with Fabry disease (FD) and to analyze the impact of enzyme replacement therapy (ERT) in treated and untreated females.
Results: Data from 3 consecutive visits of 159 female FD patients from 6 Fabry centers were retrospectively analyzed. According to their treatment, patients were separated in 3 groups (untreated, n = 71; newly ERT-treated, n = 47; long-term ERT-treated, n = 41).
Sodium-glucose cotransporter 2 inhibitors reduce albuminuria in patients with Fabry disease: a real-world case series.
Intern Med J
December 2024
Department of Nephrology, The Royal Melbourne Hospital, Melbourne, Victoria, Australia.
Background: Fabry disease is a rare X-linked multisystem disease, with progressive proteinuric kidney disease contributing significantly to morbidity and mortality of these patients. Evidence shows that sodium-glucose cotransporter 2 inhibitors (SGLT2Is) can reduce proteinuria and slow progression to end-stage kidney disease in both diabetic and non-diabetic kidney disease.
Aim: Evaluate the effects of SGLT2I on kidney function and albuminuria in patients with Fabry disease.
A real-world pharmacovigilance analysis for agalsidase beta: findings from the FDA adverse event reporting database.
Expert Opin Drug Saf
December 2024
Department of Pharmacy, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Background: Fabry disease (FD), an X-linked lysosomal disorder, is marked by a lack of alpha-galactosidase A (α-Gal A). Agalsidase beta, a recombinant form of α-Gal A, is fundamental to enzyme replacement therapy for FD but requires close monitoring for adverse events (AEs).
Research Design And Methods: This study retrospectively analyzed the Food and Drug Administration Adverse Event Reporting System (FAERS) database for agalsidase beta-related AEs.
Generation of a human induced pluripotent stem cell lines (UKJi003-A) from a patient with Fabry disease and healthy donor (UKJi004-A).
Stem Cell Res
December 2024
Department of Internal Medicine I, Division of Cardiology, University Hospital Jena, FSU Jena, Germany.
Fabry disease (FD, OMIM #301500) is a rare metabolic disorder, X-linked glycosphingolipidosis that is characterized by pathogenic mutations in the GLA (Galactosidase Alpha) gene (OMIM *300644) that result in reduced α-galactosidase A (α-GAL) activity and accumulation of globotriaosylceramide (Gb3) in tissues and organs. Peripheral blood mononuclear cells (PBMCs) were used to generate human induced pluripotent stem cells (hiPSC). UKJi004-A was produced from a healthy donor, whereas UKJi003-A was produced from a patient who had FD with GLA-mutation (IVS6-10G>A).
View Article and Find Full Text PDFEpidemiology and early predictors of Fabry nephropathy: evaluation of long-term outcomes from a national Fabry centre.
J Nephrol
December 2024
The School of Medicine, Manchester Academic Health Sciences Centre, Manchester University, Manchester, UK.
Background: Fabry disease is a rare genetic lysosomal storage disorder, whereby the accumulation of sphingolipids consequently leads to kidney structural damage and dysfunction. We explored the epidemiology of chronic kidney disease (CKD) among patients with Fabry disease at a major UK referral centre in Greater Manchester serving over 7 million people, to inform early predictors of kidney disease and possible treatment planning.
Methods: Data were sourced from the electronic records of registered participants from November 2020 to February 2022 of adults diagnosed with Fabry disease, with at least 1 year of follow-up.
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