Clinical Trials Logo

Clinical Trial Summary

Anderson-Fabry disease is a genetic lysosomal storage disease, linked to chromosome X (gene GLA), responsible of enzyme synthesis deficit in α-galactosidase A with intracellular sphingolipids accumulation and multiorganic achievement.

If renal complication is principally responsible of the pejorative evolution of the disease, it may also exist a cardiac achievement, symptomatic or not (heart failure symptoms including dyspnea, conduction abnormalities, supra-ventricular and ventricular arrhythmias), with or without left ventricular hypertrophy (LVH).

Administration of agalsidase-α or ß, a genetic engineering synthetic equivalent of the deficient enzyme, should significantly slow disease evolution indeed reduce LVH.

Some patients with Fabry disease without LVH should present, compared to healthy subjects, indirect early markers of intramyocyte lipid overload:

- in echocardiography, longitudinal myocardial deformation (strain) should be altered while ejection fraction is preserved, and

- in cardiac MRI, T1 mapping should be reduced1. This was also previously demonstrated in Fabry patients with LVH2. However, are these abnormalities of longitudinal deformation in echocardiography and of T1 mapping in MRI correlated to the presence of pejorative cardiac markers (such as clinical and functional tolerances, Brain Natriuretic Peptide (BNP) level and electrical complications)?


Clinical Trial Description

n/a


Study Design


Related Conditions & MeSH terms


NCT number NCT03123523
Study type Observational
Source University Hospital, Bordeaux
Contact Réant patricia, MD
Phone (0)5 57 65 64 85
Email patricia.reant@chu-bordeaux.fr
Status Recruiting
Phase N/A
Start date October 18, 2016
Completion date April 18, 2020

See also
  Status Clinical Trial Phase
Recruiting NCT04893889 - Substudy (NCT04456582): Noninvasive Assessment of Myocardial Stiffness by 2D-SWE Ultrasound Technique (Two-dimensional Shear Wave Elastography) in Patients With Amyloidosis and Fabry Disease. N/A
Completed NCT04455230 - A Long Term Follow-Up Study of Fabry Disease Subjects Treated With FLT190 Phase 1/Phase 2
Completed NCT01218659 - Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease Phase 3
Completed NCT00304512 - A 12-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Female Participants With Fabry Disease Phase 2
Withdrawn NCT04189601 - Complement Activation in the Lysosomal Storage Disorders
Completed NCT03500094 - Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to <18 Years) Phase 3
Withdrawn NCT04143958 - To Assess the Glycosphingolipid Clearance and Clinical Effects of Switching to Agalsidase Beta (Fabrazyme) Versus Continuing on Agalsidase Alfa (Replagal) in Male Patients With Classic Fabry Disease Phase 4
Recruiting NCT02994303 - Podocyturia - Predictor of Renal Dysfunction in Fabry Nephropathy N/A
Completed NCT01947634 - Sleepiness and Sleep-disordered Breathing in Fabry Disease. A Prospective Cohort Study. N/A
Recruiting NCT01695161 - Non-invasive Assessment of Intraocular Pressure in MPS by Use of the Ocular Response Analyzer. N/A
Completed NCT01853852 - A Phase I, Randomized, Single-Blind, Four-Period Cross-Over, Placebo-Controlled, Dose-Escalation Study to Evaluate the Safety and Pharmacokinetics of Single Oral Doses of GR181413A/AT1001 in Healthy Japanese Subjects Phase 1
Completed NCT00701415 - A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms Phase 3
Completed NCT00068107 - Dosing Study of Replagal in Patients With Fabry Disease Phase 2
Completed NCT01997489 - Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. Phase 4
Recruiting NCT06007768 - Autoimmune and Inflammatory Response Biomarkers in Fabry Disease
Recruiting NCT05698901 - Biomarkers and Cardiac Imaging Diagnostic Assay for Monitoring Patients With Fabry Disease
Active, not recruiting NCT03305250 - Arrhythmia Burden, Risk of Sudden Cardiac Death and Stroke in Patients With Fabry Disease N/A
Terminated NCT00526071 - Open-label Long-term Safety Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease Who Have Completed a Previous AT1001 Study Phase 2
Active, not recruiting NCT03566017 - Open Label Extension Study of 1 mg/kg Pegunigalsidase Alfa Every 2 Weeks in Patients With Fabry Disease Phase 3
Recruiting NCT06065605 - Assess Urine Biomarkers to Predict Nephropathy in Fabry Disease