Stroke in Young Fabry Patients (sifap1): Frequency of Fabry Disease in Young Stroke Patients "sifap1"


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 cannot be explained 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 cause could have been an undiagnosed genetic disease, the so called Fabry disease. The purpose of this study is to determine in a large number of young stroke patients, how many strokes were caused by Fabry Disease.

Detailed Description

To determine the frequency of Fabry disease in an unselected group of young patients (18 - 55 years of age) with acute cerebrovascular event (CVE)
Fabry disease and stroke:
Rolfs and co-workers have shown a high frequency of Fabry disease in a cohort of patients with cryptogenic stroke (4 % [28/721]) aged between 18 and 55 years. This corresponds to about 1.2 % in the general population of young stroke patients. Therefore the authors stated that Fabry disease must be considered in all cases of unexplained stroke in young patients, especially in cases with the combination of infarction in the vertebrobasilar artery system and proteinuria.
Cryptogenic strokes are cerebrovascular lesions of unknown origin. Clinical and laboratory data show that Fabry disease is itself a risk factor for accelerated atherosclerosis and cardiac and renal disease, which can lead to emboli and hypertension. The pilot-phase started April 2007; the official study started January 2008.



  • No intervention Behavioral
    Intervention Desc: Observational study, only laboratory analysis and diagnostic interventions done; no drug tested
    ARM 1: Kind: Experimental
    Label: Observation
    Description: all adult patients (18 - 55 years of age) with an acute cerebrovascular event of any etiology

Trial Design

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

Trial Population

Adult patients (18 - 55 years of age) with an acute cerebrovascular event of any etiology defined as patients having an acute ischemic stroke or transient ischemic attack less than 3 months before enrollment into the study


Type Measure Time Frame Safety Issue
Primary Frequency of Fabry disease.
Primary Prevalence of Fabry disease in the unselected group of young stroke patients Assessment of prevalence is done at study entry No
Secondary Classification of stroke subtype in patients identified to have Fabry disease acc. to TOAST criteria, modified Rankin scale, Barthel index and MRI criteria. Assessment of stroke subtype is done at study entry No

Biospecimen Retention:Samples With DNA - Fabry diagnostic will be done centrally: blood samples will be retained for analysis of a-galactosidase in blood to diagnose an a-galactosidase deficit; in females direct analysis of the gene has to be done since due to the Lyonisation effect a-galactosidase activity might be normal in blood although the patient might suffer from Fabry disease.