Clinical trials: Anderson Fabry Disease
Fabry's Disease
Analysis of the Nervous System in Patients With Fabry's Disease
Fabry's disease a genetic disorder (X-linked recessive) due to the absence of the enzyme ceramidetrihexosidase. The disease is characterized by abnormal collections of glycolipids in cells (histiocytes) within blood vessel walls…
- Trial name
- NCT00001491
- Where
- United States
- Volunteers
- 325 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Fabry Disease
Lipidomics and Functional Analyses of Platelets in Fabry Disease
This study aims to evaluate whether platelets are biochemically and functionally altered in Fabry disease (FD) and therefore possibly implicated in FD manifestations such as cerebrovascular events.
- Trial name
- NCT02649660
- Where
- 2 sites in Switzerland
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Spital Linth
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
Lysosomal Storage Disorders
Molecular and Cellular Mechanisms of Lysosomal Storage Diseases
The lysosome is a specialized part of the cell that functions to degrade metabolic wastes in the cell. Defects in the functioning of the lysosome result in accumulation and subsequent storage of such metabolic wastes.
- Trial name
- NCT02000310
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- O & O Alpan LLC
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
Fabry Disease
Migalastat Food Effect Study
A 5-period crossover study to evaluate the effect of meal type and timing on migalastat HCl pharmacokinetics in healthy male and female subjects.
- Trial name
- NCT01489995
- Testing
- A (migalastat), B (migalastat), C (migalastat)
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Amicus Therapeutics
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
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
Fabry Disease
A Study to Assess the Absorption, Metabolism and Excretion of Migalastat Hydrochloride (AT1001-014)
This study is designed to describe the metabolism of AT1001 (migalastat HCl) and the contribution of metabolism and urinary excretion to its overall elimination as part of the continuing assessment of the safety and effectiveness…
- Trial name
- NCT01730482
- Testing
- [14C] AT1001
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Amicus Therapeutics
Fabry, Renal Disease
Relation Between Polymorphism in Genes Related to Kidney Disease and Renal Manifistations in Fabry Disease
The rational of the study is to try to predict which of the patients who suffer from Fabry disease will have End Stage Renal Disease.
- Trial name
- NCT00437944
- Volunteers
- healthy volunteers welcome
- Sponsor
- Shaare Zedek Medical Center
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)
Cerebrovascular Accident, Fabry Disease
Vasodilation in Patients With Fabry's Disease
Fabry's disease a genetic disorder (X-linked recessive) due to the absence of the enzyme alpha-galactosidase A. The disease is characterized by abnormal collections of glycolipids in cells (histiocytes) within blood vessel walls…
- Conditions
- Cerebrovascular Accident, Fabry Disease, Healthy
- Trial name
- NCT00001774
- Where
- United States
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
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
Neuropathic Pain and Fabry Disease
Fabry disease is a rare X-linked lysosomal storage disorder. The mutations result in a deficiency of the lysosomal enzyme α-galactosidase causing accumulation of glycosphingolipids in the vascular endothelial cells and many other…
- Trial name
- NCT00168974
- Where
- Denmark
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Danish Pain Research Center
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 Disease
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
GR181413A/AT1001 (migalastat hydrochloride) is a low molecular weight iminosugar, an analog of the terminal galactose group that is cleaved from the substrate GL-3.
- Trial name
- NCT01853852
- Testing
- GR181413A/AT1001 solution, GR181413A/AT1001 capsule, Potable water
- Where
- Australia
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Amicus Therapeutics
Mucopolysaccharidosis, Fabry Disease
Non-invasive Assessment of Intraocular Pressure in MPS by Use of the Ocular Response Analyzer.
The aim of the present study is to compare intraocular pressure (IOP) values assessed with Ocular Response Analyzer to the classical gold standard of IOP measurement, to Goldmann applanation tonometry by mucopolysacchyridosis…
- Trial name
- MPSORA (NCT01695161)
- Where
- Germany
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Johannes Gutenberg University Mainz
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
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
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