Taiwan Associated Genetic and Nongenetic Small Vessel Disease (TAG-SVD)

National Taiwan University

Status: Enrolling

Conditions: Fabry Disease; Stroke; Cerebral Small Vessel Diseases; Next-generation Sequencing; Cadasil; HTRA1-Related Autosomal Dominant Cerebral Angiopathy; Magnetic Resonance Imaging; COL4A1-Related Brain Small Vessel Disease With Haemorrhage

Treatments: Diagnostic Test: MRI

Study type: Observational

Funder types: Other

Identifiers

NCT05473637

201911029RINB

Details and patient eligibility

About

The TAG-SVD enrolled patients with clinical and neuroimaging features of cerebral small vessel disease (CSVD). All enrolled patients will receive next-generation sequence (NGS) with probes designed to target five candidate CSVD genes, and patients will be divided into genetic or non-genetic groups accordingly. Their clinical features and outcome will be followed for at least 2 years.

Enrollment: 500 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

Participants must have at least one of the following symptoms/signs or history

• stroke (especially small vessel occlusion type of ischaemic stroke, spontaneous ICH or young stroke)
• cognitive impairment or dementia
• gait disturbance
• parkinsonism (especially vascular parkinsonism features)
• headache (especially migraine)
• positive family history of hereditary CSVD
• MRI evidence of CSVD (MRI may be done for other reasons), including mild to moderate white matter hyper intensity, any lacune, or any cerebral microbleed

Exclusion criteria

• MRI evidence of CSVD due to other inflammatory, malignancy, or structural lesions
• patients or family members not willing to sign informed consent

Trial design

500 participants in 2 patient groups

Genetic group

Description:

Patients who have positive DNA results by NGS screening of the following 5 genes: NOTCH3 (19q13.12), HTRA1 (10q26.13), GLA (Xq22.1), TREX1 (3p1.31) and COL4A1 (13q34).

Treatment:

Diagnostic Test: MRI

Nongenetic group

Description:

Patients who have negative DNA results by NGS screening .

Treatment:

Diagnostic Test: MRI