Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS).
1-Deoxynojirimycin
/ adverse effects
Adult
Biomarkers
/ blood
Fabry Disease
/ diagnosis
Female
Genetic Predisposition to Disease
Germany
Glomerular Filtration Rate
/ drug effects
Glycolipids
/ blood
Humans
Male
Middle Aged
Mutation
Prospective Studies
Sphingolipids
/ blood
Time Factors
Treatment Outcome
Ventricular Function, Left
/ drug effects
Ventricular Remodeling
/ drug effects
alpha-Galactosidase
/ genetics
Journal
Clinical pharmacology and therapeutics
ISSN: 1532-6535
Titre abrégé: Clin Pharmacol Ther
Pays: United States
ID NLM: 0372741
Informations de publication
Date de publication:
08 2020
08 2020
Historique:
received:
09
12
2019
accepted:
11
03
2020
pubmed:
22
3
2020
medline:
25
5
2021
entrez:
22
3
2020
Statut:
ppublish
Résumé
Fabry's disease (FD) is an X-linked lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme α-galactosidase A (α-Gal A) leading to intracellular accumulation of globotriaosylceramide (Gb3). Patients with amenable mutations can be treated with migalastat, a recently approved oral pharmacologic chaperone to increase endogenous α-Gal A activity. We assessed safety along with cardiovascular, renal, and patient-reported outcomes and disease biomarkers in a prospective observational multicenter study after 12 months of migalastat treatment under "real-world" conditions. Fifty-nine (28 females) patients (34 (57.6%) pretreated with enzyme replacement therapy) with amenable mutations were recruited. Migalastat was generally safe and well tolerated. Females and males presented with a reduction of left ventricular mass index (primary end point) (-7.2 and -13.7 g/m
Substances chimiques
Biomarkers
0
Glycolipids
0
Sphingolipids
0
globotriaosyl lysosphingolipid
126550-86-5
1-Deoxynojirimycin
19130-96-2
migalastat
C4XNY919FW
GLA protein, human
EC 3.2.1.22
alpha-Galactosidase
EC 3.2.1.22
Types de publication
Journal Article
Multicenter Study
Observational Study
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
326-337Informations de copyright
© 2020 The Authors Clinical Pharmacology & Therapeutics © 2020 American Society for Clinical Pharmacology and Therapeutics.
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