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Screening for Fabry Disease Among Young Stroke Patients in an Israeli Stroke Clinic

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified June 2014 by Dr. Yair Lampl, Wolfson Medical Center.
Recruitment status was:  Active, not recruiting
Information provided by (Responsible Party):
Dr. Yair Lampl, Wolfson Medical Center Identifier:
First received: April 22, 2010
Last updated: June 11, 2014
Last verified: June 2014
The purpose of this study is to determine the incidence of Fabry Disease in young stroke patients in an Israeli stroke clinic.

Condition Intervention
Fabry Disease in the Young Stroke Other: blood test

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic

Resource links provided by NLM:

Further study details as provided by Dr. Yair Lampl, Wolfson Medical Center:

Primary Outcome Measures:
  • positive screening of fabry disease [ Time Frame: past 5 years ]

Estimated Enrollment: 1000
Study Start Date: May 2010
Estimated Primary Completion Date: December 2014 (Final data collection date for primary outcome measure)
Intervention Details:
    Other: blood test
    Dry blood spots (DBS) analysis of a- galactosidase-A activity will be used for male patients' diagnosis. Males and females with enzymatic activity bellow the test's cut-off will be further diagnosed by gene sequencing. Since females are heterozygote and may have high residual levels of active enzyme, female patients with a- galactosidase-A activity of 30% bellow averaged normal range will also be further diagnosed by gene sequencing as described before (8).

Ages Eligible for Study:   18 Years to 55 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

diagnosis of stoke or TIA Time period within last 5 years -

Exclusion Criteria:

Known diagnosis of stroke or index event due to trauma

  Contacts and Locations
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Please refer to this study by its identifier: NCT01109875

Neurology Dept. Edith Wolfson Medical Center
Holon, Israel, 58100
Sponsors and Collaborators
Wolfson Medical Center
  More Information

Responsible Party: Dr. Yair Lampl, Professor Yair Lampl, Wolfson Medical Center Identifier: NCT01109875     History of Changes
Other Study ID Numbers: 1
Study First Received: April 22, 2010
Last Updated: June 11, 2014

Additional relevant MeSH terms:
Fabry Disease
Cerebrovascular Disorders
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Vascular Diseases
Cardiovascular Diseases
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Cerebral Small Vessel Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders processed this record on August 22, 2017