SEARCHNARRATIVE_REVIEWinternal medicine, neurology

narrative_review·internal medicine, neurology, preclinical research, biomedical research·PMC10207921

Fabry Disease: Current and Novel Therapeutic Strategies. A Narrative Review

Current Neuropharmacology · 10 authors, 5 centres

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TL;DR

This narrative review summarizes the therapeutic landscape for Fabry disease (FD), an inherited lysosomal storage disorder.

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This narrative review summarizes the therapeutic landscape for Fabry disease (FD), an inherited lysosomal storage disorder. The authors conducted a systematic literature search of clinical studies and trials. The central result is that FD-specific treatments, including enzyme-replacement therapies (agalsidase alfa and agalsidase beta) and chaperone treatment (migalastat), are approved and can stabilize symptoms or reduce disease burden. More therapeutic agents are under investigation, with substrate reduction therapies showing promising results in randomized-controlled trials (RCTs) and gene therapy showing favorable safety and efficacy in preliminary human studies. Limitations of current therapies include infusion-related adverse events, neutralizing antibodies, and strict eligibility for chaperone treatment. The review concludes that the expanding therapeutic landscape allows for a more personalized approach to FD management.

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narrative_review

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internal medicine

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ORIGINAL PAPER

PMC10207921

Fabry Disease: Current and Novel Therapeutic Strategies. A Narrative Review

Current Neuropharmacology

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ABSTRACT

Abstract Background Fabry disease (FD) is an inherited lysosomal storage disorder, leading to multisystemic manifestations and causing significant morbidity and mortality. Objective The aim of this narrative review is to present the current and novel therapeutic strategies in FD, including symptomatic and specific treatment options. Methods A systematic literature search was conducted to identify relevant studies, including completed and ongoing randomized-controlled clinical trials (RCTs), prospective or retrospective cohort studies, case series and case reports that provided clinical data regarding FD treatment. Results A multidisciplinary symptomatic treatment is recommended for FD patients, personalized according to disease manifestations and their severity. During the last two decades, FD-specific treatments, including two enzyme-replacement-therapies (agalsidase alfa and agalsidase beta) and chaperone treatment with migalastat have been approved for use and allowed for symptoms’ stabilization or even disease burden reduction. More therapeutic agents are currently under investigation. Substrate reduction therapies, including lucerastat and venglustat, have shown promising results in RCTs and may be used either as monotherapy or as complementary therapy to established enzyme-replacement-therapies. More stable enzyme-replacement-therapy molecules that are associated with less adverse events and lower likelihood of neutralizing antibodies formation have also been developed. Ex-vivo and in-vivo gene therapy is being tested in animal models and pilot human clinical trials, with preliminary results showing a favorable safety and efficacy profile. Conclusion The therapeutic landscape in FD appears to be actively expanding with more treatment options expected to become available in the near future, allowing for a more personalized approach in FD patients. Keywords: Fabry disease, enzyme replacement therapy, chaperone, gene therapy, rare neurological diseases, mutation

CITATION EXPORT

Lina Palaiodimou, Panagiotis Kokotis, Christina Zompola et al.. Fabry Disease: Current and Novel Therapeutic Strategies. A Narrative Review. Current Neuropharmacology. (2023). https://doi.org/10.2174/1570159X20666220601124117

AUTHORS

10 · 5 CENTRES

Lina Palaiodimou, Panagiotis Kokotis, Christina Zompola, Georgia Papagiannopoulou, Eleni Bakola, Marianna Papadopoulou, Vasiliki Zouvelou, Dimitrios Petras, Charalampos Vlachopoulos, Georgios Tsivgoulis

1Second Department of Neurology, “Attikon” University Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece;
2 First Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, Eginition Hospital, Athens, Greece;
3 Nephrology Department, Hippokration General Hospital, Athens, Greece;
4 First Department of Cardiology, Hippokration Hospital, University of Athens, Athens, Greece;
5 Department of Neurology, University of Tennessee Health Science Center, Memphis, TN, USA