Taiwan Associated Genetic and Nongenetic Small Vessel Disease

NCT ID: NCT05473637

Last Updated: 2024-12-24

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

RECRUITING

Total Enrollment

500 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-01-01

Study Completion Date

2028-12-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

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

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

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).

MRI

Intervention Type DIAGNOSTIC_TEST

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 .

MRI

Intervention Type DIAGNOSTIC_TEST

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

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

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).

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

National Taiwan University Hospital

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Responsibility Role SPONSOR

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

Department of Neurology, National Taiwan University Hospital

Taipei, , Taiwan

Site Status RECRUITING

Countries

Review the countries where the study has at least one active or historical site.

Taiwan

Central Contacts

Reach out to these primary contacts for questions about participation or study logistics.

Sung-Chun Tang, MD, PhD

Role: CONTACT

Phone: 886972651113

Email: [email protected]

Chih-Hao Chen, MD, PhD

Role: CONTACT

Phone: 886987392027

Email: [email protected]

Facility Contacts

Find local site contact details for specific facilities participating in the trial.

Sung-Chun Tang, MD, PhD

Role: primary

Chih-Hao Chen, MD, PhD

Role: backup

References

Explore related publications, articles, or registry entries linked to this study.

Chen CH, Chu YT, Chen YF, Ko TY, Cheng YW, Lee MJ, Chen PL, Tang SC, Jeng JS. Comparison of clinical and neuroimaging features between NOTCH3 mutations and nongenetic spontaneous intracerebral haemorrhage. Eur J Neurol. 2022 Nov;29(11):3243-3254. doi: 10.1111/ene.15485. Epub 2022 Jul 18.

Reference Type RESULT
PMID: 35781912 (View on PubMed)

Zhang R, Chen CH, Tezenas Du Montcel S, Lebenberg J, Cheng YW, Dichgans M, Tang SC, Chabriat H. The CADA-MRIT: An MRI Inventory Tool for Evaluating Cerebral Lesions in CADASIL Across Cohorts. Neurology. 2023 Oct 24;101(17):e1665-e1677. doi: 10.1212/WNL.0000000000207713. Epub 2023 Aug 31.

Reference Type RESULT
PMID: 37652700 (View on PubMed)

Shen YC, Chen YF, Cheng YW, Chen CH, Jeng JS, Tang SC. Characteristics and temporal evolution of asymptomatic diffusion-weighted imaging lesions in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Eur J Neurol. 2024 Dec;31(12):e16519. doi: 10.1111/ene.16519. Epub 2024 Oct 11.

Reference Type RESULT
PMID: 39392097 (View on PubMed)

Fislage M, Chen CH, Cheng YW, Chen YF, Tang SC. Subcortical volumes and cognition in CADASIL - A pilot study. Cereb Circ Cogn Behav. 2024 Oct 9;7:100371. doi: 10.1016/j.cccb.2024.100371. eCollection 2024.

Reference Type RESULT
PMID: 39493517 (View on PubMed)

Cheng YW, Liao YC, Chen CH, Chung CP, Fann CSJ, Chang CC, Lee YC, Tang SC. Contribution of the APOE Genotype to Cognitive Impairment in Individuals With NOTCH3 Cysteine-Altering Variants. J Am Heart Assoc. 2023 Nov 21;12(22):e032689. doi: 10.1161/JAHA.123.032689. Epub 2023 Nov 20.

Reference Type RESULT
PMID: 37982214 (View on PubMed)

Lin CW, Yang ZW, Chen CH, Cheng YW, Tang SC, Jeng JS. Reduced macular vessel density and inner retinal thickness correlate with the severity of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). PLoS One. 2022 May 26;17(5):e0268572. doi: 10.1371/journal.pone.0268572. eCollection 2022.

Reference Type RESULT
PMID: 35617208 (View on PubMed)

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

201911029RINB

Identifier Type: -

Identifier Source: org_study_id