Fabry and Stroke Epidemiological Protocol (FASEP): Risk Factors In Ischemic Stroke Patients With Fabry Disease "FASEP"


Phase N/A Results N/A

Trial Description

More than one million people in Europe suffer from a stroke every day. Normally older people have a stroke, but also a significant number of younger people between 18 and 55 years. Usually, these can only be explained for a minority by the classical risk factors such as diabetes, overweight and high blood pressure. New studies indicate that in about 1 - 2 % of the younger stroke patients the etiology can be an undiagnosed genetic disease, e.g. Fabry disease. Fabry disease is a lysosomal storage disorder known to cause vasculopathy. The purpose of this study is to determine in a large number of young stroke patients, how many strokes were caused by Fabry disease and what risk factors might be able to predict this disease.


Trial Design

  • Observation: Cohort
  • Perspective: Prospective
  • Sampling: Probability Sample

Trial Population

Adult patients with acute ischemic cerebrovascular event of any ischemic etiology


Type Measure Time Frame Safety Issue
No outcomes associated with this trial.

Biospecimen Retention:Samples With DNA - Fabry diagnostic will be done centrally: blood samples will be stored for analysis of a-galactosidase in blood, Gb3 as well as lyso-Gb3. In all cases direct analysis of the gene will be done, especially in females where due to the Lyonisation effect a-galactosidase activity might be normal in blood although the patient might suffer from Fabry disease.