NCT01097564已完成不适用
COL4A1 Gene Related Cerebra-retinal Angiopathy : Clinical Spectrum From Children to Adult, Mutational Spectrum and Application to Routine Management of Affected Patients : a Prospective Cohort Study
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 132
- 试验地点
- 1
- 主要终点
- Implication of COL4A1 gene (and other related genes) in intracranial haemorrhages of unknown etiology in children and young adults and in brain diffuse small vessel diseases of unknown etiology in young adults.
研究概览
简要总结
This prospective multicenter cohort study aims to define the clinical, radiological and mutational spectrum of the disease related to COL4A1 gene.
详细描述
150 index patients (children or young adult) will be prospectively recruited over three years according to eligibility criteria. Relatives will be also recruited.
Clinical, brain MRI-MRA and genetic testing (COL4A1 mutation screening) will be conducted for each included patient or asymptomatic relatives. 13 French investigating centres will be participating to the study.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Cross Sectional
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Inclusion criteria for the index patient :
- •Children and young adult (< 65 years)
- •Intracranial hemorrhage of unknown etiology
- •leukoencephalopathy
- •Any associated signs (including retinal arteriolar tortuosity, intracranial aneurysm, porencephaly, Infantile Cerebral Palsy, juvenile cataract)
- •Exclusion criteria:
- •(for the index patient)
- •Hypertension
- •Other (than COL4A1) genetic small vessel diseases of the brain
排除标准
- 未提供
结局指标
主要结局
Implication of COL4A1 gene (and other related genes) in intracranial haemorrhages of unknown etiology in children and young adults and in brain diffuse small vessel diseases of unknown etiology in young adults.
时间窗: at 36 months
次要结局
- To define any genotype-phenotype correlation in COL4A1 gene disease.(at 36 months)
- Application of the results in daily clinical practice(at 36 months)
- To define the whole clinical, radiological and mutational spectrum of COL4A1 gene.(at 36 months)
研究者
研究点 (1)
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