Measurement of the TCA Cycle Rate in the Dentate Nucleus in Friedreich's Ataxia
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 20
- 试验地点
- 1
- 主要终点
- TCA cycle rate in the dentate nucleus
研究概览
简要总结
OBJECTIVE: To measure the tricarboxylic acid (TCA) cycle rate in the dentate nucleus in a group of control subjects and subjects with Friedreich's Ataxia (FRDA).
HYPOTHESIS: The TCA cycle rate will be lower in FRDA subjects than in controls APPROACH: The investigators will infuse carbon-13 (13C) labeled glucose and measure the rate of 13C label incorporation from glucose to glutamate in the brain using in vivo magnetic resonance spectroscopy.
详细描述
The investigators will measure the TCA cycle rate in the dentate nucleus in a group of FRDA patients and in a group of age-matched healthy controls using 13C MRS in vivo together with systemic i.v. infusion of 13C-labeled glucose.
The investigators aim to obtain adequate data in 16 subjects grouped as follows:
- n=4 pilot subjects (healthy subjects) for testing and optimization of the experimental setup.
- n=6 healthy controls
- n=6 FRDA patients
In other to reach this goal, the investigators plan to recruit up to 20 subjects, in case some subjects withdraw before completion of the MR scan, or in case the measured data are not adequate (e.g. technical problem with the scanner).
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •18 years of age or older
- •able to consent for themselves
- •considered healthy (controls) OR be diagnosed with FRDA.
排除标准
- •All subjects:
- •Participants who cannot have an MRI, as determined by the CMRR safety screening form (e.g. metal implant)
- •Pregnancy
- •Clautrophobia
- •Clinically significant cardiac disease
- •Control subjects:
- •Neurological disease
结局指标
主要结局
TCA cycle rate in the dentate nucleus
时间窗: Baseline
value between 0 to 2 micromol/g/min
次要结局
未报告次要终点