Long-term Prospective Study of Korean CADASIL Patients (K-CADASIL)

May 11, 2026 updated by: Jay Chol Choi, Jeju National University Hospital

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

K-CADASIL is a 10-year prospective study of 500 Korean patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a genetic brain disease that causes stroke and dementia. The investigators will track symptoms, brain scans, memory tests, and gene information to understand disease progression in Koreans and identify better treatments. Participants will visit clinics regularly for check-ups and blood tests. This study aims to help improve care for CADASIL patients and families worldwide.

Study Overview

Status

Recruiting

Conditions

Detailed Description

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small vessel disease caused by mutations in the NOTCH3 gene located on chromosome 19, leading to progressive involvement of small cerebral arteries. Clinical manifestations of CADASIL vary across populations. Unlike European patients, those from East Asia, including Korea, often show distinct genotypes, neuroimaging features, and clinical phenotypes.

To date, no large multicenter study has comprehensively described the clinical, genetic, and imaging characteristics of Korean patients with CADASIL. Furthermore, long-term prognostic data are lacking. It remains unclear how vascular comorbidities and their management influence disease progression and outcomes in this population.

The K-CADASIL study is designed as a nationwide, multicenter, prospective observational cohort enrolling approximately 500 Korean patients with CADASIL. Participants will be followed for 10 years, undergoing regular clinical evaluations, laboratory testing, neuropsychological assessments, and magnetic resonance imaging (MRI).

The primary goals of this study are to: (1) characterize the clinical, genetic, and neuroimaging features of Korean CADASIL patients, (2) investigate long-term prognosis and identify factors influencing disease outcomes, and (3) establish a genomic and proteomic biorepository to enable future multi-omics analyses exploring the molecular determinants of disease development and prognosis.

Study Type

Observational

Enrollment (Estimated)

500

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

  • Name: Jay Chol Professor Choi, MD, PhD, MD, PhD
  • Phone Number: +82-64-754-8160
  • Email: jaychoi@jejunu.ac.kr

Study Locations

  • South Korea
    • Jeju-do
      • Jeju City, Jeju-do, South Korea, 63241
        • Recruiting
        • Jeju National University Hospital
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Korean adults (≥19 years) with genetically confirmed or clinically suspected CADASIL (NOTCH3 mutation). Multicenter prospective cohort recruited from 28 hospitals across Korea. Approximately 500 participants will be followed for 10 years.

Description

Inclusion Criteria:

  • Age ≥ 19 years
  • CADASIL suspected or confirmed by genetic testing (NOTCH3 mutation)
  • Able to provide written informed consent (participant or legally authorized representative)

Exclusion Criteria:

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Korean CADASIL Cohort
Genetically confirmed NOTCH3 mutation carriers followed prospectively for 10 years with regular clinical evaluations, neuroimaging, neuropsychological assessments, and laboratory testing. No investigational interventions administered.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
New-onset stroke events
Time Frame: 10 years from enrollment
Number of Participants with New-onset Stroke Events, Date of Occurrence, Subtype, Location, and National Institutes of Health Stroke Scale [NIHSS] Score.
10 years from enrollment
New-onset mild cognitive impairment (MCI) or dementia
Time Frame: 10 years from enrollment
Number of Participants with New-onset MCI or Dementia, Date of Onset, and Dementia Subtype (Alzheimer Disease Dementia, Vascular Dementia, Mixed Dementia)
10 years from enrollment

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Cerebral small vessel disease burden on MRI
Time Frame: Baseline, 3 years, 6 years
Periventricular White Matter Hyperintensity (WMH) Fazekas Scale (0-3; higher scores indicate greater severity), Deep WMH Fazekas Scale (0-3; higher scores indicate greater severity), Number of Lacunes, Number of Cerebral Microbleeds, Normalized White Matter Hyperintensity (nWMH) Volume (%)
Baseline, 3 years, 6 years
Cognitive function composite score changes
Time Frame: Baseline, 3 years, 6 years
Korean-Trail Making Test-Elderly's Version (K-TMT-E) Standard Score (higher scores indicate better performance), Korean-Mini Mental State Examination (K-MMSE) Standard Score (0-30; higher scores indicate better cognitive function), Clinical Dementia Rating (CDR) Global Score (0-3; higher scores indicate worse dementia severity), Korean version Montreal Cognitive Assessment (K-MoCA) Score (0-30; higher scores indicate better cognitive function)
Baseline, 3 years, 6 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Jeju National University Hospital

Collaborators

Pusan National University Hospital
Asan Medical Center
Chonnam National University Hospital
Seoul National University Hospital
Ulsan University Hospital
Seoul National University Bundang Hospital
Korea University Guro Hospital
Kyungpook National University Hospital
Yeungnam University Hospital
Severance Hospital
Keimyung University Dongsan Medical Center
Soonchunhyang University Hospital
Dong-A University Hospital
Hanyang University Seoul Hospital
Hallym University Medical Center
Chungbuk National University Hospital
DongGuk University
Seoul Medical Center
Kangdong Sacred Heart Hospital
Kyung Hee University Hospital
Korea University Ansan Hospital
Nowon Eulji Medical Center
Inje University Ilsan Paik Hospital
Ewha Woman University Medical Center
Jeonbuk National University Hospital
Daejeon Eulji University Medical Center

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 10, 2023

Primary Completion (Estimated)

December 31, 2035

Study Completion (Estimated)

December 31, 2040

Study Registration Dates

First Submitted

March 23, 2026

First Submitted That Met QC Criteria

March 23, 2026

First Posted (Actual)

March 27, 2026

Study Record Updates

Last Update Posted (Actual)

May 14, 2026

Last Update Submitted That Met QC Criteria

May 11, 2026

Last Verified

May 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • JEJUNUH IRB 2023-05-034

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

De-identified individual participant data (IPD) from the K-CADASIL prospective cohort, including demographic, clinical, imaging, and genetic variables, will be made available to qualified investigators upon reasonable request.

IPD Sharing Time Frame

Data will be available after publication of the primary study results and remain accessible for five years following publication.

IPD Sharing Access Criteria

Researchers must submit a proposal describing the scientific rationale and analysis plan. Requests will be reviewed and approved by the K-CADASIL Steering Committee and the Data Access Committee of Jeju National University Hospital. Data will be shared under a secure Data Transfer Agreement (DTA) and in compliance with Korean privacy laws and institutional IRB requirements.

IPD Sharing Supporting Information Type

  • STUDY_PROTOCOL
  • SAP

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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