TAG-SVD: Taiwan Associated Genetic and Nongenetic Small Vessel Disease

Sponsor

National Taiwan University Hospital (Other)

Overall Status

Recruiting

CT.gov ID

NCT05473637

Collaborator

(none)

500

Enrollment

Location

Anticipated Duration (Months)

5.2

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
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	Diagnostic Test: MRI

Study Design

Study Type:

Observational [Patient Registry]

Anticipated Enrollment :

500 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

Deciphering, Construction and Validation of Magnetic Resonance Imaging Maps, Clinical Features and Outcomes in Genetic and Nongenetic Cerebral Small Vessel Diseases

Actual Study Start Date :

Jan 1, 2019

Anticipated Primary Completion Date :

Dec 31, 2024

Anticipated Study Completion Date :

Dec 31, 2026

Arms and Interventions

Arm	Intervention/Treatment
Genetic group 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).	Diagnostic Test: MRI Patients will repeat study-protocol MRI at baseline (enrollment) and at least once in 1 year or 2 years follow-up (depends on availability).
Nongenetic group Patients who have negative DNA results by NGS screening .	Diagnostic Test: MRI Patients will repeat study-protocol MRI at baseline (enrollment) and at least once in 1 year or 2 years follow-up (depends on availability).

Arm

Intervention/Treatment

Genetic group

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).

Diagnostic Test: MRI

Patients will repeat study-protocol MRI at baseline (enrollment) and at least once in 1 year or 2 years follow-up (depends on availability).

Nongenetic group

Patients who have negative DNA results by NGS screening .

Diagnostic Test: MRI

Patients will repeat study-protocol MRI at baseline (enrollment) and at least once in 1 year or 2 years follow-up (depends on availability).

Outcome Measures

Primary Outcome Measures

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

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

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Department of Neurology, National Taiwan University Hospital	Taipei		Taiwan	100

Sponsors and Collaborators

National Taiwan University Hospital

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

National Taiwan University Hospital

ClinicalTrials.gov Identifier:

NCT05473637

Other Study ID Numbers:

201911029RINB

First Posted:

Jul 26, 2022

Last Update Posted:

Jul 26, 2022

Last Verified:

Jul 1, 2022

Individual Participant Data (IPD) Sharing Statement:

Plan to Share IPD:

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Additional relevant MeSH terms:

Porencephaly

Fabry Disease

Cerebral Small Vessel Diseases

CADASIL

Hemorrhage

Study Results

No Results Posted as of Jul 26, 2022