Long-term Prognosis of Korean Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy(CADASIL) Patients: A Multicenter Prospective Study
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 500
- 试验地点
- 1
- 主要终点
- New-onset stroke events
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 19 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age ≥ 19 years
- •CADASIL suspected or confirmed by genetic testing (NOTCH3 mutation)
- •Able to provide written informed consent (participant or legally authorized representative)
排除标准
- •Contraindication to MRI (claustrophobia, metal implants, pacemaker)
- •Acute ischemic or hemorrhagic stroke within 180 days prior to enrollment
研究组 & 干预措施
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.
结局指标
主要结局
New-onset stroke events
时间窗: 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.
New-onset mild cognitive impairment (MCI) or dementia
时间窗: 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)
次要结局
- Cerebral small vessel disease burden on MRI(Baseline, 3 years, 6 years)
- Cognitive function composite score changes(Baseline, 3 years, 6 years)
研究者
Jay Chol Choi
Professor, MD, PhD, Department of Neurology
Jeju National University Hospital