Clinical trials: Fabry Disease, open to volunteers
Fabry Disease, Endothelial Dysfunction
Characterizing the Retinal Microvasculature in Patients with Fabry Disease: a Prospective Observational Study
This study aims to gain a deeper understanding of endothelial dysfunction in patients with Fabry disease through a prospective study of the retinal microvasculature and to identify an objective, non-invasive marker to assess…
- Conditions
- Fabry Disease, Endothelial Dysfunction, Microvasculature
- Trial name
- VASCinFABRY (NCT06758648)
- Testing
- Dynamic retinal vessel analysis (DVA), Biochemistry and immune phenotyping, Questionnaires (Patient reported outcomes)
- Where
- Germany
- Volunteers
- 63 people
- Sponsor
- Technical University of Munich
Non-ischemic Cardiomyopathy, Dilated Cardiomyopathy (DCM)
Multimodal and Multidisciplinary Approach to Optimize Diagnostic, Prognostic, and Therapeutic Management of Patients with Non-ischemic Cardiomyopathies and Arrhythmogenic-inflammatory Phenotypes: a Multicenter, Observational, Retrospective and Prospective Registry Study.
Non-ischemic cardiomyopathies (NICM) represent a heterogeneous group of pathologies characterized by absence of obstructive disease of the epicardial coronary vessels and distinct structural and functional changes of the…
- Conditions
- Non-ischemic Cardiomyopathy, Dilated Cardiomyopathy (DCM), Hypertrophic Cardiomyopathy (HCM), Restrictive Cardiomyopathy
- Trial name
- AINICM (NCT06607471)
- Testing
- Support treatment, cardiac medical treatment, aetiology-specific treatment, device implant, arrhythmia ablation, Support treatment, cardiac medical treatment, aetiology-specific treatment
- Where
- Italy
- Volunteers
- 15,000 people
- Sponsor
- Scientific Institute San Raffaele
Fabry Disease
Evaluation of the Safety, Tolerability and Efficacy of a Gene Therapy Drug for the Treatment of Pediatric Fabry Disease
This is a single-arm, open label, single-dose clinical study to evaluate the safety, tolerability and efficacy of BBM-F101 injection in the pediatric Fabry disease participants up to 52 weeks after infusion, and the long-term…
- Trial name
- NCT06207552
- Testing
- BBM-F101 injection
- Where
- China
- Volunteers
- 6 people
- Sponsor
- Children's Hospital of Fudan University
Fabry Disease
Canadian Fabry Disease Initiative (CFDI) National Registry
CFDI NATIONAL REGISTRY Fabry disease is a rare, inherited, genetic condition due to a deficiency of an enzyme called alpha-galactosidase A.
- Trial name
- CFDI-NR (NCT00455104)
- Testing
- No intervention
- Where
- 5 sites in Canada
- Volunteers
- 600 people
- Sponsor
- Canadian Fabry Research Consortium
Fabry Disease
Biomarkers and Cardiac Imaging Diagnostic Assay for Monitoring Patients With Fabry Disease
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by deficient activity of the enzyme α-Gal A resulting from mutations affecting the GLA gene.
- Trial name
- NCT05698901
- Testing
- Agalsidase beta
- Where
- Taiwan
- Volunteers
- 150 people
- Sponsor
- Mackay Memorial Hospital
Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis
National Registry of Rare Kidney Diseases
The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research.
- Conditions
- Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis, AHL Amyloidosis, AL Amyloidosis
- Trial name
- RaDaR (NCT06065852)
- Where
- United Kingdom
- Volunteers
- 35,000 people
- Sponsor
- UK Kidney Association
Rare Diseases, Fabry Disease
Evaluation of HEArt invoLvement in Patients With FABRY Disease
This study evaluates predictors for the incidence of arrhythmias and sudden cardiac death as well as terminal heart failure in patients with Fabry disease.
- Conditions
- Rare Diseases, Fabry Disease, Fabry Disease, Cardiac Variant, Hypertrophic Cardiomyopathy
- Trial name
- HEAL-FABRY (NCT03362164)
- Where
- Germany
- Volunteers
- 650 people
- Sponsor
- Wuerzburg University Hospital