Clinical trials: Fabry Disease, open to volunteers
Fabry Disease
A Study of Patients With Fabry Disease (US Specific)
This is an observational study to evaluate the effects of treatment on long-term effectiveness, safety, and health-related quality of life (HRQOL) in patients with Fabry disease, with a main focus on migalastat.
- Trial name
- NCT06906367
- Testing
- migalastat HCl, ERT
- Where
- 8 sites in United States
- Volunteers
- 450 people
- Sponsor
- Amicus Therapeutics
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
Fabry Disease
Safety, PK/PD, and Exploratory Efficacy Study of AMT-191 in Classic Fabry Disease
The main goals of this clinical study are to characterize safety and PK/PD of AMT-191 i.e. if drug doses used in the study are safe and tolerable and to understand how it acts in the body of people with Fabry disease.
- Trial name
- NCT06270316
- Testing
- AMT-191
- Where
- 10 sites in United States
- Volunteers
- 20 people
- Sponsor
- UniQure Biopharma B.V.
Fabry Disease
Fabry Cardiomyopathy: Identification of Early Myocardial Structural and Tissue Abnormalities Using Multiparametric MRI
This study will evaluate whether cardiac MRI T1 and T2 mapping improves our ability to detect early abnormalities in the heart in patients with Fabry disease and identify patients at increase risk of adverse events.
- Trial name
- FIESTA-MRI (NCT04856059)
- Testing
- Cardiac MRI, ECG/Holter and Blood Biomarkers
- Where
- Canada
- Volunteers
- 300 people
- Sponsor
- University Health Network, Toronto
Fabry Disesase
A proof-of Concept Study to Assess Safety and Tolerability of HM15421/GC1134A in Patients With Fabry Disease
This Phase 1/2 first-in-human (FIH) study is designed to evaluate the safety, tolerability, pharmacokinetics (PK), and efficacy of HM15421 in patients with FD.
- Trial name
- NCT06858397
- Testing
- HM15421/GC1134A
- Where
- 10 sites in United States, Argentina and 1 more
- Volunteers
- 18 people
- Sponsor
- GC Biopharma Corp
Periodontal Disease, Periodontitis
Periodontal Disease in Rare Renal Disorders (PERIO-RA-RE)
This study aims to evaluate the burden and phenotypic spectrum of periodontal disease in patients with rare kidney disorders (such as Alport syndrome, Fabry disease, and tuberous sclerosis complex) and systemic lupus…
- Conditions
- Periodontal Disease, Periodontitis, CKD, Chronic Kidney Disease
- Trial name
- PERIO-RA-RE (NCT07575347)
- Testing
- Observational assessment
- Where
- Romania
- Volunteers
- 100 people
- Sponsor
- Stefan Lujinschi
Fabry Disease
A Multi-Country Observational Study of Safety and Effectiveness of Elfabrio® in Fabry Patients
A multi-centre, multi-country, observational, non-interventional, retrospective and prospective (hybrid) study among Fabry disease participants treated with pegunigalsidase alfa (Elfabrio®) in routine clinical care.
- Trial name
- MODERN (NCT06663358)
- Testing
- Pegunigalsidase-alfa
- Where
- 10 sites in United States, Slovenia and 1 more
- Volunteers
- 100 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Fabry Disease
Fabry Disease Registry & Pregnancy Sub-registry
The Fabry Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Fabry disease, irrespective of treatment status.
- Trial name
- NCT00196742
- Where
- 284 sites in United States, Argentina and 42 more
- Volunteers
- 9,000 people
- Sponsor
- Genzyme, a Sanofi Company
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
Fabry Disease
Long Duration Holter ECG in Fabry Disease
The main objective is to assess the occurrence of cardiac arrhythmias and conduction disorders during a three-year follow-up using implantable Holter ECG monitoring in 40 patients with Fabry disease.
- Trial name
- NCT04440254
- Testing
- Implantation (subcutaneous) of a marketed miniaturized Holter ECG recording device
- Where
- France
- Volunteers
- 40 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Fabry Disease
Aortic Dimensions in Patients With Fabry Disease
We will conduct a retrospective study aiming to define the characteristics, determinants, and progression of ascending aortic dilatation in adults with Fabry disease, using echocardiography and/or cardiac MRI
- Trial name
- DATA-Fab (NCT06956573)
- Testing
- aorta imaging
- Volunteers
- 200 people
- Sponsor
- University Hospital, Caen
Fabry Disease
Evaluate the Safety and Preliminary Efficacy of EXG110 in Subjects With Fabry Disease
Objective: To explore the safety and tolerability of different doses of EXG110 with Fabre disease
- Trial name
- NCT06539624
- Testing
- EXG110 injection
- Where
- 2 sites in China
- Volunteers
- 12 people
- Sponsor
- The Children's Hospital of Zhejiang University School of Medicine
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, Cardiovascular Diseases
the Role of cArdiac Inflammation, endoThelial Dysfunction, and FIbrosis in fabrY Disease
The overall objective of this study is to investigate Fabry-related cardiomyopathy and the use of native T1-mapping, coronary microvascular function, cardiac inflammation, and cardiac injury in an effort to improve the ability to…
- Trial name
- RATIFY (NCT06776419)
- Testing
- Cardiac Magnetic Ressonance Imaging, 82Rubidium-positron emission tomography and computer-tomography
- Where
- Denmark
- Volunteers
- 54 people, healthy volunteers welcome
- Sponsor
- Caroline Michaela Kistorp
Fabry Disease
The Safety and Efficacy of Intravenous EXG110 in Patients With Fabry Disease
A phase 1/2, multicenter, open-label, Dose-escalation study to evaluate the safety and efficacy of intravenous EXG110 in patients with Fabry disease
- Trial name
- NCT06819514
- Testing
- EXG110 Injection
- Where
- 3 sites in China
- Volunteers
- 16 people
- Sponsor
- Guangzhou Jiayin Biotech Ltd
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
Fabry Disease
A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents With Fabry Disease
A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents with Fabry Disease.
- Trial name
- FLY (NCT06328608)
- Testing
- PRX-102 1 mg/kg every two weeks
- Where
- 12 sites in United States, Austria and 4 more
- Volunteers
- 22 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Fabry Disease
Quality of Life in Adults With Untreated Fabry Disease in Sweden (QoLUF)
Fabry disease is a rare, inherited condition that can affect multiple organs, including the heart, kidneys, and nervous system. Many people with Fabry disease live for a period of time without receiving disease-specific…
- Trial name
- QoLUF (NCT07560956)
- Testing
- Qualitative Interview
- Where
- Sweden
- Volunteers
- 35 people
- Sponsor
- Vastra Gotaland Region
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