An observational study in CADASIL and Cerebral Autosomal Dominant Arteriopatie With Subcortical Infarcts and Leukoencephalopathy, sponsored by Jeju National University Hospital. Recruiting at 1 site in South Korea. Open to participants aged 19 Years and older. Per ClinicalTrials.gov, last updated 2026-05-14.
Sponsored by Jeju National University Hospital · Observational
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.
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.
33 studies on the registry are indexed under CADASIL; 18 are open to participants now.
This study's planned enrollment of 500 is above the median of 168 across 22 observational studies indexed under CADASIL.
Browse CADASIL studies →Jeju National University Hospital is the lead sponsor of 4 studies on the registry; 1 is open to participants now.
Counted across the registry records on this site, refreshed daily.
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.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Contraindication
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Genetically confirmed NOTCH3 mutation carriers followed prospectively for 10 years with regular clinical evaluations, neuroimaging, neuropsychological assessments, and laboratory testing. No investigational interventions administered.
New-onset stroke events
Number of Participants with New-onset Stroke Events, Date of Occurrence, Subtype, Location, and National Institutes of Health Stroke Scale \[NIHSS\] Score.
Time frame: 10 years from enrollment
New-onset mild cognitive impairment (MCI) or dementia
Number of Participants with New-onset MCI or Dementia, Date of Onset, and Dementia Subtype (Alzheimer Disease Dementia, Vascular Dementia, Mixed Dementia)
Time frame: 10 years from enrollment
Cerebral small vessel disease burden on MRI
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 (%)
Time frame: Baseline, 3 years, 6 years
Cognitive function composite score changes
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)
Time frame: Baseline, 3 years, 6 years
Plan to share: Yes — 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.
Supporting information: Study protocol, Statistical analysis plan
Time frame: Data will be available after publication of the primary study results and remain accessible for five years following publication.
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.
Started Jul 2023 (actual). Primary completion is estimated for Dec 2035, 149 months after the start.
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Jeju National University Hospital