Fabry Disease Clinical Trial
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)?
n/a
| 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| Withdrawn |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| Withdrawn |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
|