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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 (38) clinical trials

Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease

The primary objective is to evaluate cardiac left ventricular mass (measured with echocardiography by unique investigator) in females over 15 years of age affected with Fabry disease receiving 70 mg of agalsidase beta every other week, as compared with an untreated controlled group matched for gender and age. The secondary ...

Phase

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

Study of the Safety Efficacy & PK of Pegunigalsidase Alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients

This is an open-label switchover study to assess the safety, efficacy, and pharmacokinetics of pegunigalsidase alfa treatment of 2 mg/kg every 4 weeks in patients previously treated with enzyme-replacement therapy (ERT): agalsidase alfa or agalsidase beta, for at least 3 years and on a stable dose (>80% labelled dose/kg) for ...

Phase

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

Study of the Effects of Fabrazyme Treatment on Lactation and Infants

NOTE: Estimated Enrollment: 10 mothers and up to 10 infants

Phase

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

Fabry and Cardiomyopathy (FaCard) Epidemiological Study for the Analysis of Biomarkers and the Clinical Course of Patients With Fabry Disease and the N215S-mutation

Fabry disease is an X-linked lysosomal disorder that leads to excessive deposition of neutral glycosphingolipids in the vascular endothelium of several organs in the body. Progressive endothelial accumulation of glycosphingolipids accounts for the associated clinical abnormalities of skin, eye, kidney, heart, brain, and peripheral nervous system. Fabry disease manifesting predominantly ...

Phase N/A