Comparison of clinical and neuroimaging features between NOTCH3 mutations and nongenetic spontaneous intracerebral haemorrhage.
Chih-Hao Chen, Yung-Tsai Chu, Ya-Fang Chen...
https://pubmed.ncbi.nlm.nih.gov/35781912Actively Recruiting
Age: 18Years +
All Genders
Healthy Volunteers
ID05473637
Deciphering, Construction and Validation of MRI Maps, Clinical Features and Outcomes in Genetic and Nongenetic Cerebral Small Vessel Diseases
Led by National Taiwan University Hospital · Updated on 2026-01-20
500
Participants Needed
1
Research Sites
104 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying patients with cerebral small vessel disease (CSVD), a condition diagnosed through clinical signs and brain imaging. This study aims to understand the differences between genetic and non-genetic forms of CSVD by analyzing specific genes linked to the disease. Patients will be grouped based on their genetic test results and followed over time to observe their health outcomes. All participants will undergo next-generation sequencing (NGS) targeting five genes associated with CSVD: NOTCH3, HTRA1, GLA, TREX1, and COL4A1. Based on the results, patients will be classified into genetic or non-genetic groups. Brain MRI scans will be performed at the start of the study and repeated at least once during the one- or two-year follow-up period, depending on availability. Participants will be monitored for at least two years to track clinical features and outcomes such as stroke and dementia. The main measure is the number of patients who experience a new stroke within two years. Secondary measures include the number of patients who develop dementia. The study involves regular evaluations including brain imaging and clinical assessments to better understand CSVD's progression and impact.
CONDITIONS
Brief Title
Taiwan Associated Genetic and Nongenetic Small Vessel Disease
Who Can Participate
Age: 18Years +
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Adults aged 18 years or older
- Have at least one symptom or history of stroke, cognitive impairment or dementia, gait disturbance, parkinsonism, headache especially migraine, or positive family history of hereditary cerebral small vessel disease
- MRI evidence of cerebral small vessel disease including mild to moderate white matter changes, any lacune, or cerebral microbleeds
You will not qualify if you...
- MRI evidence of cerebral small vessel disease caused by other inflammatory, malignancy, or structural lesions
- Patients or family members not willing to sign informed consent
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Diagnostic Evaluation
Duration - At baseline and at least once during 1 to 2 years of follow-up
Participants undergo MRI scans to assess cerebral small vessel disease.
1 baseline visit and at least 1 follow-up visit within 1 to 2 years
Long-term Monitoring
Duration - 2 years
Participants are monitored for clinical outcomes including stroke and dementia over 2 years.
Periodic assessments during 2 years
Trial Site Locations
Total: 1 location
1
Department of Neurology, National Taiwan University Hospital
Taipei, Taiwan, 100
Actively Recruiting
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Research Team
S
Sung-Chun Tang, MD, PhD
C
Chih-Hao Chen, MD, PhD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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Published Research Related To This Trial
The CADA-MRIT: An MRI Inventory Tool for Evaluating Cerebral Lesions in CADASIL Across Cohorts.
Ruiting Zhang, Chih-Hao Chen, Sophie Tezenas Du Montcel...
https://pubmed.ncbi.nlm.nih.gov/37652700Characteristics and temporal evolution of asymptomatic diffusion-weighted imaging lesions in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Ying-Chi Shen, Ya-Fang Chen, Yu-Wen Cheng...
https://pubmed.ncbi.nlm.nih.gov/39392097Subcortical volumes and cognition in CADASIL - A pilot study.
Marinus Fislage, Chih-Hao Chen, Yu-Wen Cheng...
https://pubmed.ncbi.nlm.nih.gov/39493517Contribution of the APOE Genotype to Cognitive Impairment in Individuals With NOTCH3 Cysteine-Altering Variants.
Yu-Wen Cheng, Yi-Chu Liao, Chih-Hao Chen...
https://pubmed.ncbi.nlm.nih.gov/37982214Reduced macular vessel density and inner retinal thickness correlate with the severity of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Chao-Wen Lin, Zih-Wei Yang, Chih-Hao Chen...
https://pubmed.ncbi.nlm.nih.gov/35617208