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.
Study Type
OBSERVATIONAL
Enrollment
500
Jeju National University Hospital
Jeju City, Jeju-do, South Korea
RECRUITINGNew-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
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