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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 (4) clinical trials

Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain

Fabry disease (FD) is a rare X-linked multisytemic lysosomal disorder caused by alpha-galactosidase deficiency. Globotriaosylcramide (Gb3) deposits are observed in almost all tissues examined. Signs of the disease appear earlier and are more severe in affected males than in females. Myocardiopathy, renal failure and neurological signs including chronic pain and ...

Phase N/A

Follow-up of Myocardial T1 Relaxation Time in Patients With Anderson Fabry Disease

Anderson Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase. AFD can involve various organs and lead to a series of clinical abnormalities. Left ventricular hypertrophy in middle-aged men is one of its life threatening complications. It was shown that pending the ...

Phase N/A

Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan

Small fiber polyneuropathy (SFPN) is diagnosed through a combination of symptoms, signs and confirmatory diagnostic testing. Nerve conduction studies are not sensitive enough in most of the cases leaving the ankle skin biopsy with measurement of intraepidermal nerve fiber density (IENFD) as the main diagnostic tool. Despite its utility and ...

Phase N/A

Evaluation of the Gastrointestinal Manifestation of Fabry's Disease

Background: Gastrointestinal manifestations such as abdominal pain, diarrhea and nausea are prominent and, although typically non life-threatening, can frequently cause significant morbidity and burden in a patient with Fabry disease. Additional in depth understanding of gastrointestinal symptoms pathophysiology in Fabry disease is acutely needed in order to develop more specific ...

Phase N/A