Migalastat: A Review in Fabry Disease
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DOI: 10.1007/s40265-019-01090-4
Abstract: Fabry disease is a rare lysosomal disorder characterized by deficient or absent α-galactosidase A activity resulting from mutations in the GLA gene. Migalastat (Galafold™), a pharmacological chaperone, stabilizes and facilitates trafficking of amenable mutant forms… read more here.
Keywords: migalastat; amenable gla; fabry disease; disease migalastat ... See more keywords
Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study
Sign Up to like & getrecommendations! Published in 2019 at "Genetics in Medicine"
DOI: 10.1038/s41436-019-0451-z
Abstract: PurposeOutcomes in patients with Fabry disease receiving migalastat during the phase 3 FACETS trial (NCT00925301) were evaluated by phenotype.MethodsData were evaluated in two subgroups of patients with migalastat-amenable GLA variants: “classic phenotype” (n = 14; males with… read more here.
Keywords: migalastat; fabry disease; classic phenotype; amenable variants ... See more keywords