Results 11 to 20 of about 1,106 (130)

Renal and multisystem effectiveness of 3.9 years of migalastat in a global real-world cohort: Results from the followME Fabry Pathfinders registry [PDF]

Journal of Inherited Metabolic Disease
Abstract Fabry disease is a progressive, X‐linked lysosomal disorder caused by reduced or absent α‐galactosidase A activity due to GLA variants. The effects of migalastat were examined in a cohort of 125 Fabry patients with migalastat‐amenable GLA variants in the followME Pathfinders registry (EUPAS20599), an ongoing, prospective, patient‐focused ...
Aneal Khan, Roser Torra, Albina Nowak
exaly   +5 more sources

Impact of enzyme replacement therapy and migalastat on disease progression in females with fabry disease [PDF]

Orphanet Journal of Rare Diseases
Aim The aim of our multicenter study was to investigate the safety and efficacy of enzyme replacement therapy (ERT) and chaperone therapy on the disease progression in female Fabry disease (FD) patients and to compare the individual treatment regimens ...
Malte Lenders, Albina Nowak, Markus Cybulla, Jessica Kaufeld, Anja Friederike Köhn, Nicole Maria Muschol, Christine Kurschat, Eva Brand   +7 more
doaj   +3 more sources

Migalastat como monoterapia oral para la enfermedad de Fabry

Revista Colombiana de Nefrología, 2023
Contexto: la enfermedad de Fabry es una patología de depósito lisosomal poco frecuente, ligada al cromosoma X y causada por la deficiencia o ausencia de la enzima ?-galactosidasa-A.
Fernando Javier Perretta, Sebastián Jaurretche   +1 more
doaj   +2 more sources

Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients. [PDF]

PLoS ONE, 2013
Fabry disease (FD) results from mutations in the gene (GLA) that encodes the lysosomal enzyme α-galactosidase A (α-Gal A), and involves pathological accumulation of globotriaosylceramide (GL-3) and globotriaosylsphingosine (lyso-Gb3).
Brandy Young-Gqamana, Nastry Brignol, Hui-Hwa Chang, Richie Khanna, Rebecca Soska, Maria Fuller, Sheela A Sitaraman, Dominique P Germain, Roberto Giugliani, Derralynn A Hughes, Atul Mehta, Kathy Nicholls, Pol Boudes, David J Lockhart, Kenneth J Valenzano, Elfrida R Benjamin   +15 more
doaj   +9 more sources

Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study [PDF]

Frontiers in Medicine, 2023
ObjectiveFabry disease is a progressive disorder caused by deficiency of the α-galactosidase A enzyme (α-Gal A), leading to multisystemic organ damage with heterogenous clinical presentation.
Daniel G. Bichet, Robert J. Hopkin, Patrício Aguiar, Patrício Aguiar, Sridhar R. Allam, Sridhar R. Allam, Yin-Hsiu Chien, Yin-Hsiu Chien, Roberto Giugliani, Roberto Giugliani, Staci Kallish, Sabina Kineen, Olivier Lidove, Olivier Lidove, Dau-Ming Niu, Dau-Ming Niu, Iacopo Olivotto, Juan Politei, Paul Rakoski, Roser Torra, Camilla Tøndel, Camilla Tøndel, Derralynn A. Hughes   +22 more
doaj   +8 more sources

Enfermedad de Fabry: un año en tratamiento con migalastat

Revista Colombiana de Nefrología, 2022
Introducción: la enfermedad de Fabry (o enfermedad de Anderson-Fabry) es una enfermedad de depósito lisosomal causada por la deficiencia o ausencia de la enzima ?-galactosidasa A, responsable del catabolismo del glicoesfingolípido globotriaosilceramida ...
Juan Camilo Vasquez Gomez, Juan Carlos Tobón Pereira   +1 more
doaj   +2 more sources

Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase. [PDF]

PLoS ONE, 2015
Migalastat HCl (AT1001, 1-Deoxygalactonojirimycin) is an investigational pharmacological chaperone for the treatment of α-galactosidase A (α-Gal A) deficiency, which leads to Fabry disease, an X-linked, lysosomal storage disorder. The currently approved,
David G Warnock, Daniel G Bichet, Myrl Holida, Ozlem Goker-Alpan, Kathy Nicholls, Mark Thomas, Francois Eyskens, Suma Shankar, Mathews Adera, Sheela Sitaraman, Richie Khanna, John J Flanagan, Brandon A Wustman, Jay Barth, Carrolee Barlow, Kenneth J Valenzano, David J Lockhart, Pol Boudes, Franklin K Johnson   +18 more
doaj   +3 more sources

Pregnancy Outcome after Exposure to Migalastat for Fabry Disease: A Clinical Report

Case Reports in Obstetrics and Gynecology, 2019
Our patient was a 37-year-old woman with Fabry disease (GLA p.R112H) with a medical history of recurrent headache, nausea, vomiting, vertigo, and tobacco use (20 cigarettes/day).
Natalja Haninger-Vacariu, Sarah El-Hadi, Udo Pauler, Marina Foretnik, Renate Kain, Zoltán Prohászka, Alice Schmidt, Nina Skuban, Jay A. Barth, Gere Sunder-Plassmann   +9 more
doaj   +2 more sources

Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial [PDF]

Orphanet Journal of Rare Diseases, 2018
Background Fabry disease is frequently characterized by gastrointestinal symptoms, including diarrhea. Migalastat is an orally-administered small molecule approved to treat the symptoms of Fabry disease in patients with amenable mutations.
Raphael Schiffmann, Daniel G. Bichet, Ana Jovanovic, Derralynn A. Hughes, Roberto Giugliani, Ulla Feldt-Rasmussen, Suma P. Shankar, Laura Barisoni, Robert B. Colvin, J. Charles Jennette, Fred Holdbrook, Andrew Mulberg, Jeffrey P. Castelli, Nina Skuban, Jay A. Barth, Kathleen Nicholls   +15 more
doaj   +5 more sources

The GALA project: practical recommendations for the use of migalastat in clinical practice on the basis of a structured survey among Italian experts [PDF]

Orphanet Journal of Rare Diseases, 2020
Background Oral migalastat has recently been approved for the treatment of Anderson-Fabry disease (FD) in patients aged ≥16 years with amenable mutations on the basis of two phase III trials, FACETS and ATTRACT.
Cristina Chimenti, Patrizia Nencini, Federico Pieruzzi, Sandro Feriozzi, Renzo Mignani, Maurizio Pieroni, Antonio Pisani, on behalf of the GALA Working Group   +7 more
doaj   +3 more sources