NCT02812511终止不适用
Pathophysiology Analysis of "Costello Syndrome" on Cellular Models
University Hospital, Bordeaux2 个研究点 分布在 1 个国家目标入组 9 人开始时间: 2015年6月1日最近更新:
适应症
干预措施
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 发起方
- 入组人数
- 9
- 试验地点
- 2
- 主要终点
- Measurement of HRASG12V mutation on mitochondrial energy metabolism
研究概览
简要总结
The objective is to collect skin biopsies rom patients with Costello syndrome to analyze the molecular mechanisms responsible for this syndrome caused by a mutation in the HRAS gene and the effects of this mutation on energy metabolism and mitochondrial physiology.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Basic Science
- 盲法
- None
入排标准
- 年龄范围
- 2 Years 至 17 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Children aged over 2 years and under 18
- •Children with a Costello Syndrome or Syndrome Cardio-Facio-Cutaneous
排除标准
- •Previous history allergic to anesthetics
研究组 & 干预措施
Skin biopsy
Experimental
干预措施: Biopsy (Procedure)
结局指标
主要结局
Measurement of HRASG12V mutation on mitochondrial energy metabolism
时间窗: 1 day
次要结局
未报告次要终点
研究者
研究点 (2)
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