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Recruiting NCT05473637

Taiwan Associated Genetic and Nongenetic Small Vessel Disease

Observational Cerebral Small Vessel Diseases Cadasil HTRA1-Related Autosomal Dominant Cerebral Angiopathy COL4A1-Related Brain Small Vessel Disease With Haemorrhage

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: MRI.
Who it may be relevant to
Registry conditions: Cerebral Small Vessel Diseases, Cadasil, HTRA1-Related Autosomal Dominant Cerebral Angiopathy, COL4A1-Related Brain Small Vessel Disease With Haemorrhage. Basic parameters: from 18 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
Taiwan
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Official title

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

Overview

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.

Interventions

  • 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).

Primary outcome measures

  • Number of patients with incident stroke [Time frame: 2 years]
Secondary outcome measures (1)
  • Number of patients with incident dementia [Time frame: 2 years]

Eligibility criteria

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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: Yes

Study design

Observational model
Cohort

Study locations

Taiwan · 1 center
  • Department of Neurology, National Taiwan University Hospital — Taipei

Publications

  • 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. PMID 35781912
  • 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. PMID 37652700
  • 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. PMID 39392097
  • 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. PMID 39493517
  • 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. PMID 37982214
  • 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. PMID 35617208

Identifiers

NCT: NCT05473637 · 201911029RINB

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗