GDF-15 as a Biomarker for Mitochondrial Disease
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 97
- 试验地点
- 1
- 主要终点
- GDF-15 concentration in plasma sample at rest.
研究概览
简要总结
Mitochondrial disorders are a group of inherited disorders causing malfunctional mitochondria. Mitochondria are found in every cell of the body, and the disorders therefore give symptoms from every tissue, especially those with high energy needs as the brain, heart and muscles. The symptoms are often unspecific in terms of muscle weakness and fatigue, which delays the first contact to the doctor and further delays the diagnosis.
The aim of this study is to investigate if it is possible to use GDF-15 (Growth and Differentiation Factor 15) as a biomarker for mitochondrial disease and compare the results with that of healthy controls, metabolic myopathies and muscular dystrophies. The concentration relative to exercise will further be investigated.
详细描述
BACKGROUND
Energy insufficiency:
Mitochondrial and metabolic myopathies are inherited diseases compromising cellular energy metabolism, which especially affects skeletal muscle because of its high energy needs. Chemical energy is stored in the body as adenosine triphosphate (ATP), which is derived from different sources including breakdown of carbohydrates, lipids and purine nucleotides. In the respiratory chain in the inner mitochondrial membrane, ATP is released through oxidative phosphorylation.
Any genetic disorder affecting any step in the production of energy, from storage and breakdown of glycogen and lipids to transport and conversion of substrates, can manifest as energy insufficiency in the affected tissues.
Mutations in genes encoding enzymes of the lipid or carbohydrate metabolism result in metabolic myopathies and mutations in the enzyme complexes of the respiratory chain result in mitochondrial disorders.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 15 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Verified mitochondrial disease, metabolic myopathy or muscular dystrophy.
排除标准
- •Other muscle disorders.
- •Heart failure or significantly reduced kidney or lung function.
- •Contraindications for exercise test, e.g. serious heart and lung disease. The investigator will decide whether or not it is possible for the subject to participate (Only for the subjects doing an exercise test.).
- •Criteria for healthy individuals:
- •Inclusion Criteria:
- •None (except age > 15 years).
- •Exclusion Criteria:
- •Any muscle disorder
- •Heart failure
- •Contraindications for exercise test, e.g. serious heart and lung disease. The investigator will decide whether or not it is possible for the subject to participate (Only when participating in the exercise test).
结局指标
主要结局
GDF-15 concentration in plasma sample at rest.
时间窗: One blood sample per subject will be analysed. It takes 5 minutes.
The blood sample will be analysed with a Luminex analyser to determine the concentration of GDF-15.
次要结局
- GDF-15 concentration in plasma after exercise(The exercise test takes half an hour. Blood samples will be taken 1, 2, 3, 24 and 48 hours after the exercise test.)
- Maximal oxidative capacity (VO2max)(The test takes half an hour per subject.)
- Other biomarkers of energy metabolism disorders at rest and after exercise test.(If the blood samples are only taken at rest, the test takes 5 minutes. If an exercise test is done, it takes 48 hours.)
- Maximal workload capacity (Wmax)(The test takes half an hour per subject.)
研究者
Nanna Scharff Nielsen
Student researcher
Rigshospitalet, Denmark