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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 (24) clinical trials

Biomarker for Patients With Fabry Disease

Fabry disease is a progressive, inherited, multisystemic lysosomal storage disease character-ized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cere-brovascular manifestations. Annual incidence is reported to be 1 in 80,000 live births but this figure may underestimate disease prevalence. When late-onset variants of the disease are considered, a prevalence of ...

Phase N/A

Fabry Disease in Cerebrovascular Disease

This is a cross-sectional, population-based study to identify Fabry disease in patients with early cerebrovascular involvement. Eligible patients are age above 18 years old (<=55 years old) with early cerebrovascular involvement and have provided inform consent. Patients who have been diagnosed Fabry disease are not eligible. The present study will ...

Phase N/A

Screening for Fabry Disease in a Pediatric Population at Risk

The purpose of this study is to assess the frequency of Fabry disease in children with chronic abdominal pain or chronic pain in the extremities

Phase N/A

Stroke in Young Fabry Patients (sifap2): Characterization of the Stroke Rehabilitation

In a group of young stroke patients with diagnosed Fabry disease the stroke rehabilitation will be investigated during different prophylactic therapeutic approaches. In this study the investigator will not be given any instructions on stroke and Fabry therapy. All patients with any etiology of stroke and a diagnosed Fabry disease ...

Phase N/A

Canadian Fabry Disease Initiative (CFDI) National Registry

CFDI NATIONAL REGISTRY: Canada-Wide Patient Recruitment There are over 600 people in Canada known to have Fabry Disease. For more details about Fabry Disease, please refer to the "Brief Summary." The goals of this nation-wide study are as follows: To maintain an established national registry which will collect information related ...

Phase N/A

Investigating Lysosomal Storage Diseases in Minority Groups

Although lysosomal storage disorders, such as Fabry disease, Gaucher disease, and Pompe disease, represent serious challenges in the healthcare system, no study has yet investigated the prevalence of these diseases in the US. Frequently, patients show progressive worsening of symptoms for several years before they get diagnosed. Since many of ...

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

Fabry's Disease and Pregnancy (PREFAB)

Fabry's disease is a progressive systemic disease X-linked which combines neurological (Fabry's pain crises), dermatologic (angiokeratomas), renal (renal failure), cardiovascular (hypertrophic cardiomyopathy, valvular disease, conduction disorder, coronary heart disease) and cerebral vascular (stroke) symptoms . It is a glycosphingolipid metabolism disorder due to deficient or absent activity of the alpha-galactosidase ...

Phase N/A

Native T1 Mapping by Cardiovascular Magnetic Resonance Imaging in Rare Diseases

Our understanding of cardiac involvement in FD is limited because the myocyte storage cannot be assessed non-invasively. However with the development of CMR T1 mapping this maybe possible. T1 mapping demonstrated excellent discrimination between FD and other causes of LVH, and this property is highly suggestive of a direct but ...

Phase N/A

Fabry Disease Registry

The Fabry Registry is an international program; in addition to the central contact information provided under the "Location" heading, patients may contact: In Asia-Pacific - Vivian Liu, +65-6431-2548, Vivian.liu@genzyme.com In Europe - +31-35-699-1232, europe@FabryRegistry.com In Latin America - +617-591-5500, help@FabryRegistry.com In North America - +617-591-5500, help@FabryRegistry.com

Phase N/A