Actively Recruiting

Age: 19Years +
All Genders
ID07497867

Long-term Prognosis of Korean Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Patients: A Multicenter Prospective Study

Led by Jeju National University Hospital · Updated on 2026-05-14

500

Participants Needed

1

Research Sites

261 weeks

Total Duration

On this page

Sponsors

J

Jeju National University Hospital

Lead Sponsor

A

Asan Medical Center

Collaborating Sponsor

AI-Summary

What this Trial Is About

Researchers are conducting a 10-year prospective study involving 500 Korean patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a genetic brain disease that leads to stroke and dementia. This study aims to understand disease progression specifically in Koreans by tracking symptoms, brain scans, memory tests, and genetic information. It also seeks to identify factors that affect outcomes and to help improve care for CADASIL patients and their families worldwide. Participants confirmed to carry the NOTCH3 gene mutation will be followed regularly for 10 years. They will receive clinical evaluations, neuroimaging through MRI scans, neuropsychological assessments, and laboratory tests. No investigational treatments will be administered during this observational study. The study will also collect genomic and proteomic data to support future research on disease mechanisms. During the study, participants will visit clinics regularly for check-ups, blood tests, and brain imaging at baseline, 3, and 6 years. Researchers will monitor the occurrence of new strokes, mild cognitive impairment, or dementia over 10 years. They will assess changes in cerebral small vessel disease burden and cognitive function over time. This long-term follow-up aims to gather comprehensive data on the clinical and genetic features of Korean CADASIL patients and their disease outcomes.

CONDITIONS

Brief Title

Long-term Prospective Study of Korean CADASIL Patients

Who Can Participate

Age: 19Years +
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Age 19 years or older
  • Suspected or confirmed CADASIL by genetic testing (NOTCH3 mutation)
  • Able to provide written informed consent (participant or legally authorized representative)
Not Eligible

You will not qualify if you...

  • Contraindication to MRI such as claustrophobia, metal implants, or pacemaker
  • Acute ischemic or hemorrhagic stroke within 180 days prior to enrollment

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

Long-term Monitoring

Duration - 10 years

Participants with genetically confirmed CADASIL are followed for 10 years with regular clinical evaluations, neuroimaging, neuropsychological assessments, and laboratory testing to observe disease progression and outcomes.

Regular clinical evaluations and assessments at baseline, 3 years, and 6 years

Trial Site Locations

Total: 1 location

1

Jeju National University Hospital

Jeju City, Jeju-do, South Korea, 63241

Actively Recruiting

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Research Team

J

Jay Chol Professor Choi, MD, PhD, 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

1

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Published Research Related To This Trial

Neuroimaging standards for research into small vessel disease and its contribution to ageing and neurodegeneration.

Joanna M Wardlaw, Eric E Smith, Geert J Biessels...

https://pubmed.ncbi.nlm.nih.gov/23867200

Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL.

Christian Opherk, Mariya Gonik, Marco Duering...

https://pubmed.ncbi.nlm.nih.gov/24578207

NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants.

Bernard P H Cho, Stefania Nannoni, Eric L Harshfield...

https://pubmed.ncbi.nlm.nih.gov/33712516

Correction: The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant.

Julie W Rutten, Bastian J Van Eijsden, Marco Duering...

https://pubmed.ncbi.nlm.nih.gov/30237574