NCT01509287已完成不适用
Metabolic Screening in Patients With Donnai-Barrow Syndrome
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 78
- 试验地点
- 1
- 主要终点
- measures of blood sugar, cholesterol, vitamins A and D, and other compounds
研究概览
简要总结
This study focuses on the genetics and metabolism of Donnai-Barrow Syndrome (DBS).
详细描述
The purpose of this study is to better understand the role of certain nutrients and vitamins in promoting the healthy development of individuals with Donnai-Barrow Syndrome. The investigators hope that the information gained by studying the metabolism of children with Donnai-Barrow Syndrome and their family members will lead to significant advances in the treatment of this disease.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 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
- •All individuals affected with Donnai-Barrow Syndrome
排除标准
- 未提供
结局指标
主要结局
measures of blood sugar, cholesterol, vitamins A and D, and other compounds
时间窗: 5 years
次要结局
未报告次要终点
研究者
Barbara R. Pober
Principal Investigator and Clinical Geneticist
Massachusetts General Hospital
研究点 (1)
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