Epidemiological Study of Fabry Disease in Taiwan Young Stroke Patients

Chiayi Christian Hospital1,000 enrolled

Overview

This is a cross-sectional, population-based study. No randomization procedure will be executed in this study. Approximately 1000 subjects over a 36-month period. The aim of this screening study is to identify the Fabry disease as the cause in patients with young stroke. To measure the level of α-Gal A activity, male subjects will initially provide a DBS sample and female subjects will start with a test by whole blood sample. The prevalence of Fabry disease among patients with young stroke will be estimated by a confirmative diagnosis in gene testing.

Study Type

OBSERVATIONAL

Enrollment

1,000

Conditions

Fabry Disease

Interventions

GLA geneGENETIC

Genetic test will be performed when enzyme activity is found abnormal in the whole blood test or confirmation is required. 5 ml of blood sample will be obtained and polymerase chain reaction (PCR) sequencing will be executed to determine mutations in the GLA gene.

Eligibility

Sex: ALLMin age: 20 YearsMax age: 55 Years

Medical Language ↔ Plain English

Inclusion Criteria: * Patients aged 20 or over * Patients aged under 56 years old, not included 56 * Patients with acute stroke * Patients and/or their legal representatives are willing to provide written informed consent Exclusion Criteria: * Patients with a confirmed diagnosis of Fabry disease

Outcomes

Primary Outcomes

Fabry disease

The prevalence of Fabry disease in patients with young stroke

Time frame: 3 years later

Data from ClinicalTrials.gov

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