Magnetic Resonance Imaging Study of Patients With Chronic Progressive External Ophthalmoplegia
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 133
- 试验地点
- 1
- 主要终点
- Fat fraction in the muscles of the lower bag, thighs and calves
研究概览
简要总结
The purpose of this study is to investigate the fraction of fat on a MRI scan of lower bag muscles, thighs and calves in patients with the mitochondrial disease chronic progressive external ophthalmoplegia (CPEO).
Additionally an investigation of the volume of the eye muscles will be done and compared to the patient's clinical presentation of ptosis and ophthalmoplegia.
详细描述
The lack of energy and fatigue seen in patients with mitochondrial diseases have been assumed to be caused by an energy defect because of a genetic defect in the mitochondrial DNA.
The investigators have analyzed a few MRI scans of muscles from patients with CPEO and have seen an extended amount of fat in their muscles, which seems to progress with age. The patient's symptoms might be caused by the extended amount of fat and thereby a less amount of active muscle instead of the "energy defect".
This will be investigated in a group of patients with CPEO and the results will be compared with results from a group of healthy controls.
研究设计
- 研究类型
- Observational
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 18 Years 至 80 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Danish patients with verified single large-scale mtDNA deletions and chronic progressive external ophthalmoplegia.
排除标准
- •Patients who have metal implants in the body, for instance surgical clips, cochlear implant, pacemaker etc.
- •Patients who are pregnant or breast-feeding.
- •Patients who are claustrophobic
结局指标
主要结局
Fat fraction in the muscles of the lower bag, thighs and calves
时间窗: 1 day
The investigators will make a 3-point Dixon scan of the muscles of the lower bag, thighs and calves and measure the fraction of fat in these muscles once per patient or control.
次要结局
- Isokinetic muscle dynamometry of ankle flexion(1 day)
- Isokinetic muscle dynamometry of knee flexion.(1 day)
- Isokinetic muscle dynamometry of ankle extension(1 day)
- Isokinetic muscle dynamometry of knee extension(1 day)
研究者
Gitte Hedermann Pedersen
Bsc.
Rigshospitalet, Denmark