Fabry Disease: Switch from Enzyme Replacement Therapy to Oral Chaperone Migalastat: What Do We Know Today?

ABSTRACT: Fabry disease is a lysosomal storage disorder caused by the deficiency of the α-galactosidase-A enzyme. The result is the progressive accumulation of complex glycosphingolipids and cellular dysfunction. Cardiac, renal, and neurological involvement significantly reduces life expectancy. Currently, there is increasing evidence that clinical response to treatment improves with early and timely initiation. Until a few years ago, treatment options for Fabry disease were limited to enzyme replacement therapy with agalsidase alfa or beta administered by intravenous infusion every 2 weeks. Migalastat (Galafold^®) is an oral pharmacological chaperone that increases the enzyme activity of "amenable" mutations. The safety and efficacy of migalastat were supported in the phase III FACETS and

SUBMITTER: Perretta F 

PROVIDER: S-EPMC9957019 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature