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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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New Drugs Available for Fabry Disease.

Fernando Perretta, Gustavo Cabrera, Juan Politei

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    New treatments for Fabry disease (FD) offer improved options for patients. Emerging therapies like substrate reduction and gene therapy show promise for managing this genetic disorder.

    Area of Science:

    • Biochemistry
    • Genetics
    • Pharmacology

    Background:

    • Fabry disease (FD) is an X-linked genetic disorder caused by GLA gene variants, leading to α-galactosidase A (α-Gal A) deficiency.
    • This deficiency results in the accumulation of glycosphingolipids, primarily affecting the cardiovascular, renal, and nervous systems and reducing life expectancy.
    • Optimal treatment initiation and dosage are critical for improving outcomes and quality of life in FD patients.

    Purpose of the Study:

    • To review newly available drugs and future therapeutic approaches for Fabry disease.
    • To highlight the benefits and limitations of current and emerging FD treatments.
    • To discuss the potential of novel therapies in enabling individualized care for FD patients.

    Main Methods:

    • Review of current literature on Fabry disease treatments.

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  • Analysis of novel therapeutic agents including migalastat, pegunigalsidase alfa, substrate reduction therapy (SRT), and gene therapy.
  • Examination of clinical trial data and preclinical studies for emerging therapies.

    • Main Results:

    • Migalastat offers oral administration and non-immunogenicity but is suitable only for patients with amenable GLA variants.
    • Pegunigalsidase alfa, a plant cell-cultured enzyme, shows reduced immunogenicity and a prolonged half-life.
    • SRT agents (venglustat, lucerastat) reduce Gb3 synthesis, are orally administered, non-immunogenic, and may cross the blood-brain barrier.
    • Gene therapy approaches (ex vivo and in vivo) are under investigation with positive early outcomes in human and animal studies.

    Conclusions:

    • Ongoing development provides a wider array of therapies for individualized Fabry disease care.
    • While a definitive cure is not yet available, new options like gene and mRNA-based treatments show promise.
    • Further research is necessary to overcome challenges such as treatment costs and to fully realize the potential of novel therapeutic strategies.