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
The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2019.100494
Abstract: The pharmacological chaperone migalastat is indicated for the treatment of Fabry disease in patients with an amenable GLA variant. Amenability is determined by an in vitro, good laboratory practice (GLP)-validated assay using HEK293 cells (GLP-HEK… read more here.
Keywords: migalastat; hek assay; fabry disease; amenability ... 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
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes
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DOI: 10.1136/jmg-2022-108669
Abstract: Background Fabry disease is a rare, multisystemic disorder caused by GLA gene variants that lead to alpha galactosidase A deficiency, resulting in accumulation of glycosphingolipids and cellular dysfunction. Fabry-associated clinical events (FACEs) cause significant morbidity… read more here.
Keywords: fabry associated; long term; incidence; fabry ... See more keywords
5th Update on Fabry Nephropathy: Biomarkers, Progression and Treatment Opportunities. April 25-27, 2017, Mexico City, Mexico: Abstracts
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DOI: 10.1159/000475511
Abstract: s Nephron 2017;136:163–182 DOI: 10.1159/000475511 168 frame insertions/deletions, and multiple-site missense mutations may result in mutant forms amenable to the mechanism of action of migalastat. However, mutations that impair the synthesis of α-Gal A, severely… read more here.
Keywords: migalastat; hek assay; site; mutant forms ... See more keywords
Long-Term Monitoring of Cardiac Involvement under Migalastat Treatment Using Magnetic Resonance Tomography in Fabry Disease
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DOI: 10.3390/life13051213
Abstract: Abstract Background: Fabry cardiomyopathy is characterized by left ventricular hypertrophy, myocardial fibrosis, arrhythmia, and premature death. Treatment with migalastat, an oral pharmacological chaperone, was associated with a stabilization of cardiac biomarkers and a reduction in… read more here.
Keywords: magnetic resonance; long term; treatment; migalastat ... See more keywords