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

Lina      Palaiodimou; Panagiotis      Kokotis; Christina      Zompola; Georgia      Papagiannopoulou; Eleni      Bakola; Marianna      Papadopoulou; Vasiliki      Zouvelou; Dimitrios      Petras; Charalampos      Vlachopoulos; Georgios      Tsivgoulis
doi:10.2174/1570159X20666220601124117
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 enzymereplacement- 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, neurological rare diseases
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Graphical Abstract

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DOI https://dx.doi.org/10.2174/1570159X20666220601124117	Print ISSN 1570-159X
Publisher Name Bentham Science Publisher	Online ISSN 1875-6190
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