Clinical trials: Fabry Disease
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a…
- Conditions
- Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease
- Trial name
- ScreenPlus (NCT05368038)
- Testing
- Confirmatory Testing
- Where
- 9 sites in United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Albert Einstein College of Medicine
Danon Disease, Fabry Disease
Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques
What is this study about? This research is focused on improving the care for people with rare heart muscle diseases, known as rare cardiomyopathies.
- Conditions
- Danon Disease, Fabry Disease, Cardiac Amyloidosis, Noonan Syndrome
- Trial name
- NCT07336394
- Where
- China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Chinese Academy of Medical Sciences, Fuwai Hospital
Cerebral Small Vessel Diseases, Cadasil
Taiwan Associated Genetic and Nongenetic Small Vessel Disease
The TAG-SVD enrolled patients with clinical and neuroimaging features of cerebral small vessel disease (CSVD). All enrolled patients will receive next-generation sequence (NGS) with probes designed to target five candidate CSVD…
- Conditions
- Cerebral Small Vessel Diseases, Cadasil, HTRA1-Related Autosomal Dominant Cerebral Angiopathy, COL4A1-Related Brain Small Vessel Disease With Haemorrhage
- Trial name
- TAG-SVD (NCT05473637)
- Testing
- MRI
- Where
- Taiwan
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Fabry Disease
PK/PD Study of 2 Agalsidase Formulations in Single Dose of 1 mg/kg Administered to Healthy Volunteers as IV Infusion
Pharmacokinetic/Pharmacodynamic Study of 2 agalsidase beta Formulations in Single Dose Administered to Healthy Volunteers as intravenous infusion, at a concentration of 1 mg/kg
- Trial name
- NCT05343715
- Testing
- Agalsidase beta from Biosidus 1 mg/kg, Fabrazyme (agalsidase beta) 1 mg/kg
- Where
- Argentina
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Bio Sidus SA
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, Chronic Kidney Diseases
Fibrosis, Inflammation, Oxygenation of Renal Tissue In FabrY Disease
The overall objective of this study is to investigate Fabry-associated renal organ involvement by using a novel magnetic resonance imaging (MRI) approach, focusing on changes in renal oxygen levels by blood oxygenation-level…
- Trial name
- FORTIFY (NCT06325488)
- Where
- Denmark
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Caroline Michaela Kistorp
Fabry Disease
Autoimmune and Inflammatory Response Biomarkers in Fabry Disease
The goal of this observational study is to understand the immune response in Fabry disease (FD). We want to find out how the immune response is related to the severity of FD and how it affects patients' quality of life and pain.
- Trial name
- Bio-FAIR (NCT06007768)
- Where
- Spain
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Fundacion para la Investigacion Biomedica del Hospital Universitario Ramon y Cajal
Fabry Disease
A Co-designed Physical Activity Intervention in Fabry Disease
Currently, treatments for Fabry disease are pharmacological and predominantly focus on the physical symptoms of the disease. In the general population and individuals with disabilities, increasing physical activity levels and…
- Trial name
- NCT06257901
- Testing
- Interviews/Focus groups/Participatory workshops
- Where
- United Kingdom
- Volunteers
- 41 people, healthy volunteers welcome
- Sponsor
- Brunel University
Fabry Disease
Studying Lipids as Potential Biomarkers in Patients With Fabry Disease
Compare levels of lipids between well characterised enzymatically-genetically-phenotypically patients with Fabry disease and healthy controls (with no Fabry disease).
- Trial name
- NCT05046379
- Testing
- Lipidomics
- Where
- 3 sites in Sweden
- Volunteers
- 108 people, healthy volunteers welcome
- Sponsor
- Vastra Gotaland Region
Fabry Disease
Clinical Investigation on the Blood Oxygenation at the Optic Nerve Head in Fabry Patients
This study aimed to evaluate blood oxygenation at the optic nerve head in relation with visual field losses observed in many Fabry patients. Data collected allowed to evaluate if there is a link between these two entities.
- Trial name
- NCT02023086
- Testing
- Contrast sensitivity measurement, Slit Lamp assessment and intra-ocular pressure measurement, Visual field testing
- Where
- Canada
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Université de Montréal
Hypertrophic Cardiomyopathy, Left Ventricular Hypertrophy
Screening Patients With Fabry Disease in Patients With Hypertrophic Cardiomyopathy or Left Ventricular Hypertrophy
The purpose of this study was to understand the epidemiological status of Fabry in patients with hypertrophic cardiomyopathy or left ventricular hypertrophy through multi-center early identification of high-risk patients in…
- Conditions
- Hypertrophic Cardiomyopathy, Left Ventricular Hypertrophy, Fabry Disease
- Trial name
- SEARCH (NCT06169358)
- Where
- China
- Volunteers
- 627 people, healthy volunteers welcome
- Sponsor
- Qilu Hospital of Shandong University
Fabry Disease
Pulsatility Index, Vasomotor Reactivity and Leukoencephalopathy in Fabry Patients
We hypothesize that Fabry disease - FD is associated with elevated vascular resistance induced by cerebral small-vessel disease, indicating increased distal resistance to blood flow.
- Trial name
- NCT04577170
- Testing
- Transcranial Doppler (TCD) and Transcranial Color-Coded Duplex (TCCD) ultrasonography
- Where
- Greece
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- National and Kapodistrian University of Athens
Fabry Disease
Assess Urine Biomarkers to Predict Nephropathy in Fabry Disease
The purpose of this research is to collect biological samples (urine) to develop assays for immune biomarkers to possibly in the future be able to screen subjects with Fabry disease and be able to understand better progression of…
- Trial name
- NCT06065605
- Where
- 2 sites in United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Fabry Disease, Fabry Disease, Cardiac Variant
Fabry Exercise Intolerance Study
Patients and healthy controls will undergo cardiopulmonary exercises and testing of the muscles strength to gain additional understanding of exercise intolerance as Fabry disease (FD) manifestation.
- Trial name
- FEISTY (NCT05413876)
- Testing
- Intermittent cardiopulmonary exercise test, Incremental cardiopulmonary exercise test
- Where
- Netherlands
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
Fabry Disease
FASHION Fabry Disease Hypertrophic Cardiomyopathy and Infammation
In Fabry disease (FD) and hypertrophic cardiomyopathy (HCM) systemic inflammation recently gained attention as a possible key pathophysiologic process involved in the development of cardiac hypertrophy and progression of the…
- Trial name
- FASHION (NCT05761834)
- Testing
- Sample blood and 2D-echocardiography with Doppler
- Where
- Italy
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Fabry Disease
Pre-Clinical White Matter Changes and Associated Connectivity Effects in Fabry Disease
The purpose of this research project is: to use an advanced quantitative MRI technique (FBFI) to detect and quantify brain lesion in patients with FD to use fMRI to identify altered brain function to use FBFI and fMRI together to…
- Trial name
- NCT03678324
- Testing
- Functional MRI and fast bound-pool fraction imaging
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Utah
Small Fiber Neuropathy, Fabry Disease
Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan
Sudoscan™ (Impeto Medical, Paris France) uses electrochemical skin conductance as a novel noninvasive method to detect sudomotor dysfunction.
- Conditions
- Small Fiber Neuropathy, Fabry Disease, Ehlers Danlos Syndrome, Mitochondrial Disease
- Trial name
- NCT02985710
- Testing
- Sudoscan, Skin biopsy, QSART
- Where
- United States
- Volunteers
- 102 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Fabry Disease, Gaucher Disease
Complement Activation in the Lysosomal Storage Disorders
The lysosomal storage disorders (LSDs) are monogenic disorders associated with inflammation affecting multiple organs, and early death.
- Conditions
- Fabry Disease, Gaucher Disease, Niemann-Pick Disease, Type C, Lysosomal Storage Diseases
- Trial name
- CATALYST (NCT04189601)
- Testing
- Complement measurements
- Where
- Australia
- Volunteers
- healthy volunteers welcome
- Sponsor
- Melbourne Health
Fabry Disease, Amyloidosis
Substudy (NCT04456582): Noninvasive Assessment of Myocardial Stiffness by 2D-SWE Ultrasound Technique (Two-dimensional Shear Wave Elastography) in Patients With Amyloidosis and Fabry Disease.
Introduction: Heart failure with preserved systolic function encompasses several different diseases, but which have diastolic dysfunction and its components in common: myocardial stiffness and altered relaxation.
- Trial name
- FABRY (NCT04893889)
- Testing
- Shear-wave elastography
- Where
- Brazil
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Sao Paulo General Hospital
Fabry's Disease
Early Detection and Follow-Up of Patients With Fabry's Disease
This research project will serve on the enhancement of early detection, diagnosis and follow-up of patients with Fabry Disease, through new biomarkers identification. This could have straight clinical impact on: 1.
- Trial name
- NCT04847713
- Testing
- extraction of blood samples
- Where
- Spain
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Hospital Clinico Universitario de Santiago