Energy Requirements in Metabolic and Mitochondrial Disease
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 23
- 试验地点
- 1
- 主要终点
- Resting Energy Expenditure
研究概览
简要总结
Metabolic diseases and mitochondrial disorders are caused by genetic mutation which lead to disruptions in energy producing pathways in our body. Enough energy or calories must be given in the diet to ensure normal growth and development. Currently, energy needs for patients with metabolic and mitochondrial diseases are not measured, but is estimated using a mathematical equation based on healthy children. This may lead to under feeding or overfeeding of calories, and has negative nutritional implications.
The clinical standard for measuring energy needs is the use of indirect calorimeter.The indirect calorimeter takes individualized measurements for each patient and therefore will enable dietitians and clinicians to provide sufficient calories in the diet to better manage the disease and promote normal growth and development.
We believe daily energy requirements will vary within metabolic diseases (Phenylketonuria) and mitochondrial disorders (mitochondrial fatty acid oxidation defect, POLG1 mutation etc.).
The objective of this preliminary study is to measure resting energy expenditure in children living with metabolic and mitochondrial conditions and data obtained will be used to generate future hypothesis and will form a basis for future studies.
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
- 年龄范围
- 1 Year 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Children(1-18y) who are diagnosed with either Phenylketonuria (PKU) or a mitochondrial disorder
排除标准
- •Children, less than 1y old, who are diagnosed with PKU or a mitochondrial disorder, as it is difficult to perform indirect calorimeter on them.
- •Children(1-18y) who are not diagnosed with PKU or a mitochondrial disorder
- •Children(1-18y) who are diagnosed with either PKU or a mitochondrial disorder, but are currently experiencing illness such as fever, cold, vomiting or diarrhea
结局指标
主要结局
Resting Energy Expenditure
时间窗: 1 hour
Resting Energy Expenditure will be measured by carbon dioxide production and oxygen consumption.
次要结局
未报告次要终点
研究者
Rajavel Elango, PhD
Principle Investigator
University of British Columbia