NCT03293134已完成不适用
Clinical and Molecular Characterization of Cerebral Proliferative Vasculopathy
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 25
- 试验地点
- 1
- 主要终点
- Morphological analysis
研究概览
简要总结
As principal objective, the study aims to:
- Describe the spectrum and evaluate the frequency of angiodysplasia of the nevrax;
- Establish the physiopathological basis of Fowler's syndrome;
- Identify FLVCR2 partners and the signaling pathways involved;
- Test new candidate genes: GPR124 and possible partners of FLVCR2.
As second objective, the study aims to:
- perform phenotype / genotype correlation if necessary;
- and propose a prenatal diagnosis in families with identified mutations.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Angiodysplasia restricted to central nervous system with or without glomerular vasculopathy.
- •Informed consent signed.
排除标准
- •Vascular malformations not confined to the nevrax.
- •No signature of consent.
结局指标
主要结局
Morphological analysis
时间窗: throughout the study: 36 months
Morphological analysis : characterisation of cellular lesions by immunolabelling with endothelial markers such as CD34 and CD31, pericytic markers (smooth muscle actin and proteoglycan NG2) and astrocytic markers (GFAP)
次要结局
- Identification of novel disease(throughout the study: 36 months)
研究者
研究点 (1)
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