RNF213 Variants and Collateral Vessels in Moyamoya Disease
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 300
- 试验地点
- 1
- 主要终点
- Identification of RNF213 variants and different types of collateral vessels
研究概览
简要总结
The purpose of this study is to detect the association between RNF213 variants and collateral vessels in patients with moyamoya disease.
详细描述
Moyamoya disease (MMD) is a chronic cerebrovascular disorder characterized by the presence of occlusion which occurs at the internal carotid arteries and their main branches during the development of a basal collateral network. The ring finger 213 (RNF213) was identified as a strong susceptibility gene in patients with MMD in East Asia. The role of RNF213 variants in pathogenesis of MMD is still unclear. Specific "moyamoya vessels" correlate with the onset of stroke. The purpose of this study is to investigate the relationship between RNF213 variants and collateral vessels in patients with moyamoya disease, and provide potential pathogenesis of moyamoya disease.
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
- 4 Years 至 60 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Written informed consent is obtained
- •Patients with age between 4-60 years
- •Cerebral digital subtraction contrast angiography (DSA) reveal severe stenosis or occlusion of the distal internal carotid or proximal middle and anterior cerebral arteries with prominent lenticulostriate 'moyamoya collaterals'
排除标准
- •There are other vascular diseases, including systemic vasculitis, neurofibroma, meningitis, sickle cell disease, down's syndrome, and previous basilar radiotherapy
- •Patients with cardiogenic embolism, including a history of atrial fibrillation, valvular disease or cardiac valve replacement
- •Physical or subjective failure to cooperate with the examination or serious comorbid diseases
结局指标
主要结局
Identification of RNF213 variants and different types of collateral vessels
时间窗: Baseline
次要结局
- Identification of serum biomarkers and different types of collateral vessels(Baseline)
- Identification of clinical characteristics and different types of collateral vessels(Baseline)
- Identification of RNF213 variants, serum biomarkers, clinical characteristics and different types of postoperative collateral vessels(6-12 months)