Results 31 to 40 of about 1,106 (130)

Impact of enzyme replacement therapy and migalastat on left atrial strain and cardiomyopathy in patients with Fabry disease

Frontiers in Cardiovascular Medicine, 2023
AimsCardiomyopathy in Fabry disease (FD) is a major determinant of morbidity and mortality. This study investigates the effects of FD-specific treatment using enzyme replacement therapy (ERT) and chaperone therapy on left atrial (LA) function using two ...
Christian Pogoda, Stefan-Martin Brand, Thomas Duning, Thomas Duning, Antje Schmidt-Pogoda, Jürgen Sindermann, Malte Lenders, Eva Brand   +7 more
doaj   +1 more source

Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data [PDF]

, 2020
The treatment options for Fabry disease (FD) are enzyme replacement therapy (ERT) with agalsidase alfa or beta, and the oral pharmacological chaperone migalastat.
Zanfardino, Mario, Cocozza, Sirio, Capuano, Ivana, Riccio, Eleonora, Imbriaco, Massimo, Feriozzi, Sandro, Ferreri, Lucia, Santoro, Ciro   +7 more
core   +1 more source

Long-term efficacy of migalastat in females with Fabry disease. [PDF]

J Med Genet
Background Fabry disease is a progressive, X-linked lysosomal disorder caused by reduced or absent α-galactosidase A activity due to GLA variants. Females with Fabry disease often experience diagnostic delays and an underappreciated disease burden ...
Kallish S, Camporeale A, Hopkin RJ, Jovanovic A, Nordbeck P, Veleva-Rotse BO, Krusinska E, Torra R.   +7 more
europepmc   +2 more sources

Unraveling A4GALT Mechanism and Its Modulation With Adamantyl‐Galactosylceramide Analogues: Advancing Fabry Disease Therapeutic Strategies

Angewandte Chemie, Volume 138, Issue 41, 5 October 2026.
A 310‐helix‐mediated conformational switch promotes a front‐face SNi‐like catalysis by human A4GALT. Mechanism‐guided design identifies AdaGalCer as a selective modulator of globotriaosylceramide (Gb3) biosynthesis, opening a clear route toward new Fabry disease therapeutics.
Nicky de Koster, Òscar Vidal‐Gironès, Rowan de Graaf, Ken Kok, Lindsey T. Lelieveld, Jackelien Hoogervorst, Maria J. Ferraz, José Pablo Rivas‐Fernández, Rob F. Lammers, Herman S. Overkleeft, Johannes M. F. G. Aerts, Rolf G. Boot, Carme Rovira, Marta Artola   +13 more
wiley   +2 more sources

Migalastat Treatment in a Kidney-Transplanted Patient with Fabry Disease and N215S Mutation: The First Case Report

Pharmaceuticals, 2021
Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α-galactosidase A activity and, consequently, to glycosphingolipid accumulation in a wide variety of cells.
Valeria Di Stefano, Marta Mancarella, Antonia Camporeale, Anna Regalia, Marta Ferraresi, Marco Pisaniello, Elena Cassinerio, Federico Pieruzzi, Irene Motta   +8 more
doaj   +1 more source

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat [PDF]

, 2017
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.
Katz, E, John Kirk, Castelli, J, Kenneth J. Valenzano, Benjamin, ER, Yu, J, Valenzano, KJ, Jeff Castelli, Wilcox, WR, Evan Katz, Giugliani, R, Desnick, RJ, Maria Cecilia Della Valle, Hughes, D, Derralynn Hughes, Roberto Giugliani, Wu, X, David J. Lockhart, Robert J. Desnick, Carrolee Barlow, Bond, S, Lockhart, DJ, Jay Barth, Bichet, DG, Germain, DP, Sarah Bond, Benjamin Bronfin, Kirk, J, Daniel G. Bichet, Barth, J, Pruthi, F, Julie Yu, Della Valle, MC, Bronfin, B, Elfrida R. Benjamin, Barlow, C, Dominique P. Germain, Raphael Schiffmann, Schiffmann, R, Williams, H, Farhana Pruthi, Xiaoyang Wu, Hadis Williams, William R. Wilcox   +43 more
core   +1 more source

Mean (SD) plasma migalastat concentration-time profiles following co-administration of agalsidase with 450 mg or 150 mg migalastat HCl, and 150 mg migalastat HCl alone.

, 2015
Whether co-administered with agalsidase (Stage 1/Period 2) or administered alone (Stage 1/Period 3), plasma migalastat concentrations were similar at all post-dose time points.
Mark Thomas (83380), Carrolee Barlow (55079), Myrl Holida (781292), David J. Lockhart (150528), Franklin K. Johnson (781296), Kenneth J. Valenzano (150531), Brandon A. Wustman (600825), Pol Boudes (398543), Richie Khanna (150496), John J. Flanagan (150499), David G. Warnock (166505), Daniel G. Bichet (781291), Francois Eyskens (5664652), Sheela Sitaraman (781295), Ozlem Goker-Alpan (18201), Mathews Adera (781294), Kathy Nicholls (398542), Jay Barth (495717), Suma Shankar (781293)   +18 more
core   +1 more source

Strong increase of leukocyte apha‐galactosidase A activity in two male patients with Fabry disease following oral chaperone therapy

Molecular Genetics & Genomic Medicine, 2019
Background Fabry disease (OMIM 301500) is an X‐linked disorder caused by alpha‐galactosidase A (α‐Gal A) deficiency. The administration of a pharmacologic chaperone (migalastat) in Fabry patients with amenable mutations has been reported to improve or ...
Foudil Lamari, Wladimir Mauhin, Fairouz Koraichi, Walid Khrouf, Celine Bordet, Jonathan London, Olivier Lidove, Philippe Charron   +7 more
doaj   +1 more source

Treatment of Fabry Nephropathy: A Literature Review

Medicina, 2023
Fabry disease is an X-linked inherited lysosomal storage disorder with a deficiency of α-galactosidase A activity, which results in the intracellular accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in various organs.
Homare Shimohata, Marina Yamashita, Kota Yamada, Kouichi Hirayama, Masaki Kobayashi   +4 more
doaj   +1 more source

Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies. [PDF]

J Inherit Metab Dis
ABSTRACT This paper reviews biomarkers in lysosomal disease according to their categories and definitions. There are numerous biomarkers in lysosomal diseases. Some are disease or organ‐specific, but most are not. Organ‐specific biomarkers are especially useful, but most biomarkers help with diagnosis, assessing disease severity, prognosis, and ...
Schiffmann R.
europepmc   +2 more sources