Keywords
globotriaosylceramide
α-galactosidase-A
migalastat
chaperone
How to Cite
Abstract
Background: Fabry disease is a rare lysosomal storage disorder, linked to the X chromosome, and caused by the deficiency or absence of the enzyme ?-galactosidase-A. Nephropathy together with heart disease and neurological involvement lead to premature death.
Purpose: This review describes oral migalastat monotherapy in patients with Fabry disease and “amenable” mutations.
Methodology: An oral pharmacological chaperone called Migalastat (Galafold®), stabilizes and facilitates the trafficking of “amenable” mutated forms of the enzyme to the lysosomes, thus increasing its activity.
Results: The phase III FACETS and ATTRACT studies have demonstrated safety and efficacy compared to available enzyme replacement therapies; achieving renal function stabilization, reduction of left ventricular mass and maintenance of plasmatic Lyso-Gb3 levels.
Conclusions: Migalastat was generally well tolerated in both trials. Subsequent extension publications showed similar results, confirming the safety and efficacy both in patients who were previously on enzyme replacement therapy and have been switched to migalastat, as well as in patients who have started migalastat as their first treatment.
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