Lipidomics and Functional Analyses of Platelets in Fabry Disease

Launched by SPITAL LINTH · Jan 5, 2016

Keywords

ClinConnect Summary

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 are largely unclear. Prevention of recurrent cerebrovascular events is usually based on empirical anti-platelet therapy.

Prothrombotic states and partially activated platelets have been reported for FD patients. Platelets contain glycosphingolipid...

Gender

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Eligibility criteria

• Inclusion Criteria:
• • Healthy Volunteers: without any known cardiovascular, cerebrovascular and renal diseases and without any known conditions affecting platelet function, blood coagulation and lipid metabolism.
• • Patients: Genetically confirmed Fabry Disease
• • Adult persons (18-65 years old), both female and male
• • Informed written consent
• Exclusion Criteria:
• • Failure to meet inclusion criteria
• • Pregnancy (as declared by the study participant, no pregnancy test will be performed)