Taiwan Associated Genetic and Nongenetic Small Vessel Disease

Recruiting

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

• Registration Number: NCT05473637
• Lead Sponsor: National Taiwan University Hospital

Brief Summary

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.

Detailed Description

Not available

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study Start: 2019-01-01
• Study First Submitted: 2022-07-18
• Study First Submitted QC: 2022-07-24
• Study First Posted: 2022-07-26
• Status Verified: 2024-12
• Last Update Submitted: 2024-12-19
• Last Update Posted: 2024-12-24
• Primary Completion: 2026-12-31
• Study Completion: 2028-12-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 500

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

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Exclusion Criteria

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

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Nongenetic group	MRI	Patients who have negative DNA results by NGS screening .
Genetic group	MRI	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).

Primary Outcome Measures

Name	Time	Method
Number of patients with incident stroke	2 years	Clinical stroke, including transient ischemic attack, ischemic stroke, or intracerebral hemorrhage.; The stroke is defined by a focal neurological deficits lasting more than 24 hours, with accompanied neuroimaging evidence of infarct or hemorrhage in corresponding brain area.

Secondary Outcome Measures

Name	Time	Method
Number of patients with incident dementia	2 years	Vascular cognitive impairment (VCI), vascular dementia (VaD), or Alzheimer's dementia or Vascular dementia according to latest diagnostic criteria.; Alzheimer's disease diagnostic criteria: National Institute of Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease (PMID: 21514247); Vascular dementia diagnostic criteria: Diagnosis and Statistical Manual of Mental Disorders, Fifth Edition

Trial Locations

Locations (1)

Department of Neurology, National Taiwan University Hospital; 🇨🇳 Taipei, Taiwan