NCT01907555已完成不适用
Clinical, Molecular and Physiopathological Study of Cohen Syndrome and Cohen-like Syndromes
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 100
- 试验地点
- 1
- 主要终点
- spectrum of mutations VPS13B
研究概览
简要总结
This project will make it possible to better understand the natural history of Cohen Syndrom and the phenotypes associated with mutations in the VPS13B gene, to improve the therapeutic management of patients. It will also provide a better description of Cohen-like syndrome for genetic counselling for the families concerned.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients presenting Cohen syndrome and two VPS13B mutations
- •who accept a clinical evaluation, and to provide at least one blood sample
- •Patients presenting the diagnostic criteria of Cohen syndrome, but without a VPS13B mutation
- •Patients presenting neutropenia or pigmentary retinopathy and at least one of the following signs, after exclusion of any other syndrome: mental retardation, microcephaly, truncal obesity
排除标准
- •- Patients who do not meet the clinical and/or molecular criteria
- •Patients who do not wish to provide a blood sample for question 1,
- •Patients who have not provided written informed consent,
- •Pregnant or breast-feeding women,
- •Persons not covered by National Health Insurance and persons under guardianship or in prison.
结局指标
主要结局
spectrum of mutations VPS13B
时间窗: baseline
次要结局
未报告次要终点
研究者
研究点 (1)
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