Fabry Disease
Conditions
Keywords
Fabry disease, Young stroke
Brief summary
Epidemiological Study of Fabry Disease in Taiwan Young Stroke Patients
Detailed description
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.
Interventions
GENETICGLA gene
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.
Sponsors
Sanofi
Chiayi Christian Hospital
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
20 Years to 55 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Fabry disease | 3 years later | The prevalence of Fabry disease in patients with young stroke |
Outcome results
None listed