Fabry Disease in the Young Stroke
Conditions
Brief summary
The purpose of this study is to determine the incidence of Fabry Disease in young stroke patients in an Israeli stroke clinic.
Interventions
OTHERblood 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).
Sponsors
Wolfson Medical Center
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to 55 Years
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 \-
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| positive screening of fabry disease | past 5 years |
Countries
Israel
Outcome results
None listed