Fabry disease (FD) is a rare, progressive lysosomal storage disorder caused by mutations in the GLA gene, resulting in reduced α-galactosidase A activity and the subsequent accumulation of globotriaosylceramide (Gb3) in various organ systems. Enzyme replacement therapy (ERT), although conventional, has drawbacks, including exorbitant costs, biweekly infusions, immunological reactions and limited tissue penetration. Migalastat (Galafold®), the first oral pharmaceutical chaperone, offers a tailored, non-invasive option for individuals with susceptible mutations. This evaluation assesses the drug's mechanism of action, pharmacokinetics, clinical effectiveness and socio-economic implications. Clinical studies, such as facets and attract, have shown that Migalastat efficiently stabilizes renal function, improves cardiac structure and enhances quality of life. It furthermore provides benefits in cost efficiency, patient compliance and diminished healthcare strain. Furthermore, public-private collaborations have been crucial in facilitating worldwide access and regulatory approval. Nonetheless, constraints are there about its application in individuals with non-amenable mutations or severe renal pathology. This study asserts that Migalastat represents a transformative advancement in the treatment of Fabry disease, facilitating precision medicine and alleviating long-term treatment burdens, thereby improving quality of life and providing an invasive option for those with treatable mutations. Migalastat represents a paradigm shift in the care of Fabry disease, according to this review, which also demonstrates that it promotes precision medicine and reduces the burden of long-term treatment.
