NCT02854150已完成不适用
Improving Genetic Counseling for Patients With Spina Bifida Using Next Generation Sequencing
Rennes University Hospital1 个研究点 分布在 1 个国家目标入组 106 人开始时间: 2015年9月最近更新:
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 106
- 试验地点
- 1
- 主要终点
- absence or low frequency (<1%) in public databases (dbSNP, Hapmap, 1000Genome)
研究概览
简要总结
The main objective is to improve genetic counseling in patients with Spina Bifida, by the characterization of variants in new genes using high throughput sequencing either on a panel of targeted genes or on exome in families.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Spina Bifida patients (without age restriction), attending the genetic consultation at the National Reference Centre for Spina Bifida. These patients gave their written agreement for studying genes which could be involved in Spina Bifida.
排除标准
- •Patients who refused to give their authorization to perform the sequencing of genes involved in Spina Bifida on their DNA
结局指标
主要结局
absence or low frequency (<1%) in public databases (dbSNP, Hapmap, 1000Genome)
时间窗: through study completion, an average of 1 year
次要结局
未报告次要终点
研究者
研究点 (1)
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