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NCT Number: NCT07497867

Long-term Prospective Study of Korean CADASIL Patients

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.

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Key information

Conditions

CADASIL Brain Diseases Brain Infarction Brain Ischemia Cardiovascular Diseases Central Nervous System Diseases Cerebral Arterial Diseases Cerebral Autosomal Dominant Arteriopatie With Subcortical Infarcts and Leukoencephalopathy Cerebral Infarction Cerebral Small Vessel Diseases Cerebrovascular Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dementia Dementia, Vascular Genetic Diseases, Inborn Infarction Intracranial Arterial Diseases Ischemia Leukoencephalopathies Necrosis Nervous System Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Stroke Vascular Diseases

Age range

19 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Jeju National University Hospital

Jeju City, Jeju-do, 63241, South Korea

Location status: Recruiting

Location contact

JI HYE Oh, RN, PhD, RN, PhD

CONTACT

[email protected]

+82-64-717-2153

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. 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.

  2. 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)

Secondary outcomes

  1. 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 (%)

  2. 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)

Study contacts

Contact information is provided by the study sponsor or research team.

Jay Chol Professor Choi, MD, PhD, MD, PhD

CONTACT

[email protected]

+82-64-754-8160

Sponsors and collaborators

Lead sponsor

Jeju National University Hospital

Other

Collaborators

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

Registry information

Official study title

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

Acronym: K-CADASIL

Important dates

Study start
2023
Primary completion
2035
Study completion
2040
First posted
Mar 27, 2026
Registry last updated
May 14, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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