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Long-term follow-up of renal function in patients treated with migalastat for Fabry disease.
Mol Genet Metab Rep
September 2021
Department of Nephrology, Royal Melbourne Hospital, University of Melbourne, Parkville, Victoria, Australia.
Article Synopsis
- The study assessed the long-term impact of migalastat on kidney function in patients with Fabry disease who were either new to enzyme replacement therapy (ERT-naive) or had prior ERT experience, analyzing data from phase 3 clinical trials.
- ERT-naive patients (36 participants) had a mean baseline estimated glomerular filtration rate (eGFR) of 91.4 mL/min, while ERT-experienced patients (42 participants) had a mean eGFR of 89.2 mL/min; both groups showed similar average decline trends in kidney function over two years.
- The average annual eGFR decline was
and Amenability to Migalastat in Fabry Disease.
Mol Ther Methods Clin Dev
December 2020
Internal Medicine D, Department of Nephrology, Hypertension and Rheumatology, and Interdisciplinary Fabry Center Münster (IFAZ), University Hospital Münster, 48149 Münster, Germany.
Migalastat (1-deoxygalactonojirimycin) is approved for the treatment of Fabry disease (FD) in patients with an amenable mutation. Currently, there are at least 367 amenable and 711 non-amenable mutations known, based on an good laboratory practice (GLP) assay. Recent studies demonstrated that amenability of mutations did not necessarily correspond to amenability of migalastat-treated patients.
View Article and Find Full Text PDFThe migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease.
Mol Genet Metab Rep
September 2019
Medical Genetics Service, HCPA and Department of Genetics, UFRGS, Porto Alegre, Brazil.
Inter-assay variability influences migalastat amenability assessments among Fabry disease variants.
Mol Genet Metab
May 2019
Bioanalytical & Biomarker Development, Shire, 300 Shire Way, Lexington, MA, USA. Electronic address:
Fabry disease is a lysosomal storage disorder caused by mutations in the GLA gene that encodes for the lysosomal enzyme α-galactosidase A (α-Gal A). Reduced or absent α-Gal A activity leads to substrate accumulation and deleterious effects in multiple organs. Migalastat is a pharmacological chaperone that may stabilize the enzyme in specific GLA variants, considered amenable, assisting enzyme trafficking to lysosomes and thus increasing enzyme activity.
View Article and Find Full Text PDFThe validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
Genet Med
April 2017
Amicus Therapeutics, Cranbury, New Jersey, USA.
Purpose: Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene. Migalastat, a pharmacological chaperone, binds to specific mutant forms of α-galactosidase A to restore lysosomal activity.
Methods: A pharmacogenetic assay was used to identify the α-galactosidase A mutant forms amenable to migalastat.
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