Fabry Disease Clinical Trial
Official title:
Study of the Spermatic Characteristics of Patients With Fabry Disease
The objective of this project is to estimate the prevalence of spermatic abnormalities in patients with Fabry disease.The main objective of this project is to estimate the prevalence of spermatic abnormalities in patients with Fabry disease.
Fabry disease is a lysosomal storage burden of X-linked genetic transmission due to
alpha-galactosidase deficiency. This enzyme deficiency causes deposits of
globotriaosylceramide in virtually all cell types of the body. The majority of hemizygous men
develop a severe multisystemic disease dominated by renal failure, neurological and cardiac
involvement. There is a specific treatment based on enzyme replacement therapy.
The incidence of Fabry disease is estimated between 1/60000 and 1/3500 in the general
population.
Infertility in Fabry disease is poorly documented. Only a few cases have been reported, from
alteration of spermogram to azoospermia. The identification of deposits suggestive of Gb3 in
light microscopy and electron microscopy at the level of the genital tract argues in favor of
the attack of this device. The low prevalence of Fabry disease requires a cross-sectional
multicenter study to determine the frequency of alterations in sperm characteristics, their
impact on fertility, and the possible effect of substitution therapy, in order to establish
appropriate measures. adequate preventive measures.
The objective of this project is to estimate the prevalence of spermatic abnormalities in
patients with Fabry disease.The main objective of this project is to estimate the prevalence
of spermatic abnormalities in patients with Fabry disease.
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| 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
|