A5072604415- Lysosomal Storage Disorders Research
- Trypanosoma species research and implications
- Glycogen Storage Diseases and Myoclonus
- Carbohydrate Chemistry and Synthesis
- Cellular transport and secretion
- Connective tissue disorders research
- Biomedical Research and Pathophysiology
- Dermatological and Skeletal Disorders
- Cerebrovascular and genetic disorders
- Glycosylation and Glycoproteins Research
- Studies on Chitinases and Chitosanases
- Skin and Cellular Biology Research
- Child Nutrition and Feeding Issues
- Cardiomyopathy and Myosin Studies
- Enzyme Production and Characterization
- Prenatal Screening and Diagnostics
- Moyamoya disease diagnosis and treatment
- Genomic variations and chromosomal abnormalities
- Protein Tyrosine Phosphatases
- Vascular Malformations and Hemangiomas
- Parkinson's Disease Mechanisms and Treatments
- Sphingolipid Metabolism and Signaling
- Cystic Fibrosis Research Advances
- Erythrocyte Function and Pathophysiology
- Mosquito-borne diseases and control
Université de Versailles Saint-Quentin-en-Yvelines
2014-2025
Université Paris-Saclay
2016-2025
University of Miami
2025
Charles University
2021-2025
Assistance Publique – Hôpitaux de Paris
2014-2024
Hôpital Raymond-Poincaré
2012-2023
Hospital Universitario de San Vicente Fundación
2023
Universidad de Antioquia
2023
Pontificia Universidad Javeriana
2023
Baxter (Colombia)
2023
Fabry's disease, lysosomal alpha-galactosidase A deficiency, results from the progressive accumulation of globotriaosylceramide and related glycosphingolipids. Affected patients have microvascular disease kidneys, heart, brain.We evaluated safety effectiveness recombinant in a multicenter, randomized, placebo-controlled, double-blind study 58 who were treated every 2 weeks for 20 weeks. Thereafter, all received an open-label extension study. The primary efficacy end point was percentage whom...
Fabry's disease, an X-linked disorder of lysosomal α-galactosidase deficiency, leads to substrate accumulation in multiple organs. Migalastat, oral pharmacologic chaperone, stabilizes specific mutant forms α-galactosidase, increasing enzyme trafficking lysosomes.The initial assay that we used categorize 67 patients with disease for randomization 6 months double-blind migalastat or placebo (stage 1), followed by open-label from 12 2) plus additional year, had certain limitations. Before...
Fabry disease, an inherited deficiency of the lysosomal enzyme α-galactosidase A, causes progressive intralysosomal accumulation globotriaosylceramide (GL-3) and premature death from renal, cardiac, cerebrovascular manifestations. To determine long-term safety efficacy recombinant human open-label, phase III extension study was conducted, involving 58 patients who had classic disease completed a 20-wk, double-blind, randomized, placebo-controlled, agalsidase β were transitioned to trial...
Fabry disease ( FD ) is an X‐linked genetic disorder caused by the deficient activity of lysosomal α‐galactosidase (α‐Gal). While males are usually severely affected, clinical presentation in female patients may be more variable ranging from asymptomatic to, occasionally, as affected male patients. The aim this study was to evaluate existence skewed X‐chromosome inactivation XCI females with , its concordance between tissues, and contribution phenotype. Fifty‐six were enrolled. Clinical...
<h3>Background</h3> Fabry disease is an X-linked lysosomal storage disorder caused by <i>GLA</i> mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of substrates. Migalastat, oral pharmacological chaperone being developed as alternative to intravenous enzyme replacement therapy (ERT), stabilises specific mutant (<i>amenable</i>) forms α-Gal facilitate normal trafficking. <h3>Methods</h3> The main objective the 18-month, randomised, active-controlled ATTRACT study was...
<h3>Background</h3> Fabry disease results from deficient α-galactosidase A activity and globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic cardiomyopathy early demise. We assessed the 10-year outcome of recombinant therapy. <h3>Methods</h3> The outcomes (severe clinical events, function, cardiac structure) 52/58 patients with classic phase 3 trial extension study, Registry were evaluated. Disease progression rates for low involvement (LRI, n=32) or high...
Fabry disease (FD) is a lysosomal storage disorder resulting in progressive nervous system, kidney and heart disease. Enzyme replacement therapy (ERT) may halt or attenuate progression. Since administration burdensome expensive, appropriate use mandatory. We aimed to define European consensus recommendations for the initiation cessation of ERT patients with FD.A Delphi procedure was conducted an online survey (n = 28) meeting 15). Patient organization representatives were present at give...
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 restore activity.A pharmacogenetic assay was used identify amenable migalastat. Six hundred disease-causing were expressed HEK-293 (HEK) cells; increases activity measured good laboratory practice (GLP)-validated (GLP HEK/Migalastat Amenability Assay). The predictive value assessed based on pharmacodynamic...
Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by pathogenic variants in the α‐galactosidase A ( GLA ) gene that leads to reduced or undetectable enzyme activity and progressive accumulation of globotriaosylceramide its deacylated form globotriaosylsphingosine cells throughout body. FD can be multisystemic with neurological, renal, cutaneous cardiac involvement limited heart. Cardiac characterized hypertrophy, fibrosis, arrhythmias, heart failure sudden death. The...
Patients with Fabry disease (FD) are at a high risk for developing chronic kidney and cardiovascular disease. The availability of specific but costly therapy has elevated the profile this rare condition. This KDIGO conference addressed controversial areas in diagnosis, screening, management FD, included enzyme replacement nonspecific standard-of-care various manifestations FD. Despite marked advances patient care improved overall outlook, there is need to better understand pathogenesis...
The purpose of this study was to identify determinants renal disease progression in adults with Fabry during treatment agalsidase beta.Renal function evaluated 151 men and 62 women from the Registry who received beta at an average dose 1 mg/kg/2 weeks for least 2 years. Patients were categorized into quartiles based on slopes estimated glomerular filtration rate (eGFR) treatment. Multivariate logistic regression analyses used factors associated progression.Men within first quartile had a...