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Fabry Disease Clinical Trials

A listing of Fabry Disease medical research trials actively recruiting patient volunteers. Search for closest city to find more detailed information on a research study in your area.

RESULTS

Found (22) clinical trials

Natural History and Structural Functional Relationships in Fabry Renal Disease Treatment Outcomes(Changes)in Fabry Renal Disease Study

Fabry disease is a rare genetic disease with deficient activity of enzyme alpha-galactosidase Deficient activity of this enzyme leads to the accumulation of lipid-derived inclusions in different organs including kidney, heart and vessels. These inclusions can be found in the kidney even before birth. The earliest known clinical manifestation of ...

Phase N/A

Kidney Information Network for Disease Research and Education

KINDRED is a prospective observational cohort study that will enroll up to 10,100 dialysis patients throughout the United States with and without known diagnosis of Fabry disease but at risk for Fabry disease (e.g., unknown cause of renal disease, young male, initiating dialysis without a kidney biopsy, etc).This tissue repository ...

Phase N/A

Fabry Disease Screening in ESRD Patients in West of France

Detection of Fabry disease is done by dried blood spot test, in dialyzed and transplanted men, who reached ESRD for vascular or unknown disease and were not previously screened.

Phase N/A

Screening of Fabry Disease in Patients With Left Ventricular Hypertrophy Detected in Echocardiography

The purpose of this study is to determine the prevalence in Belgium of Fabry disease in patients with unexplained hypertrophic cardiomyopathy measured by echocardiography and to determine in Fabry patients which was the most frequently initial symptom. Actually the early diagnosis is important because a treatment exists that can prevent ...

Phase N/A

Impact of Agalsidase Alfa Therapy on Cardiac funcTION in Patients With Fabry's Cardiomyopathy

Objectives - The purpose of this study is to evaluate the impact of ERT with Agalsidase Alfa on LV diastolic function and flow in patients with Fabry's cardiomyopathy using LV 2D strain, diastolic stress echocardiography, LV vortex flow and CMR. Primary / Secondary Endpoint 1) Primary endpoint: Change from baseline ...

Phase N/A

Lipidomics and Functional Analyses of Platelets in Fabry Disease

Fabry disease (FD) is a severe X-linked inborn error of the lysosomal glycosphingolipid metabolism. FD patients have significantly increased risks for cardiac and cerebrovascular events, which can also occur early and in absence of the typical FD symptoms. However, the pathophysiological mechanisms leading to vascular occlusion and ischemia in FD ...

Phase N/A

Podocyturia - Predictor of Renal Dysfunction in Fabry Nephropathy

Despite long-term recombinant enzyme replacement therapy, kidney failure remains a common and important complication of Fabry disease. Recent studies suggest that early administration of enzyme replacement therapy in sufficient dosage may prevent progression of kidney failure in patients with Fabry disease. Currently, there is no reliable non-invasive biomarker to detect ...

Phase N/A

Diagnosis of Fabry Disease: Impact of an Educational Brochure Intended for Cardiologist

The cardiac Fabry disease are early, frequent and severe, dominated by the frequency of left ventricular hypertrophy. They are responsible for a high morbidity and mortality, reducing life expectancy of 15 to 20 years for men. Fabry disease and heart attacks are still diagnosed late. This delay in diagnosis is ...

Phase N/A

Evaluation of HEArt invoLvement in Patients With FABRY Disease

Fabry disease is a rare disease and part of the group of lysosomal storage disorders. Natural history of Fabry disease has proven poor survival to ages >50 years outlining the importance to evaluate cardiac symptoms and outcomes of patients with Fabry disease. This study is a prospective cohort study and ...

Phase N/A

Impact of Enzyme Replacement Therapy on Cardiac Function in Patients With Fabry's Cardiomyopathy (RECAFTURE Trial)

Objectives -The purpose of this study is to evaluate the impact of ERT on LV diastolic function and flow in patients with Fabry's cardiomyopathy using diastolic stress echocardiography, LV vortex flow and CMR. Primary / Secondary Endpoint 1) Primary endpoint Changes of peak exercise E/E' by diastolic stress echocardiography (RECAP-F ...

Phase N/A