Clinical Trial of Citric Acid Cycle Stimulation in Energy-deficiency States: Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D) (NMTUT 2010B)
试验速览
- 阶段
- 1 期
- 状态
- 已完成
- 发起方
- 入组人数
- 14
- 试验地点
- 1
- 主要终点
- Number of Participants With Reduction in Spike-wave Fraction of the EEG Recording Time
研究概览
简要总结
The purpose of this trial is to determine if an alternative energy source will impact brain metabolism in a disorder characterized by glucose metabolism failure in the brain.
The central hypothesis tested in this investigation is whether circumventing impaired glucose metabolism is feasible, safe and potentially promising by supplying anaplerotic precursors through metabolism of odd-carbon fatty acids that can enter the citric acid cycle (CAC) through alternative metabolic pathways.
详细描述
Triheptanoin, a nutritional supplement long used in other metabolic disorders and also added to foods and cosmetics, will be used to complement any diet that G1D patients may be receiving at enrollment with the exception of the ketogenic diet.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Basic Science
- 盲法
- None
入排标准
- 年龄范围
- 1 Month 至 20 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Male or Female
- •Ages 1 month to <21 years of age
- •Diagnosed with glucose transporter type I deficiency.
- •Age matched (within 1 year) controls not diagnosed with G1D.
排除标准
- •All subjects carrying body metal implants incompatible with the exposure to a magnetic field
- •Subjects unable to tolerate the MRI and MRS procedures due to anxiety
- •Subjects receiving oxygen supplementation or those confined to a bed or stretcher
- •Subjects currently receiving a ketogenic diet, due to a high risk of seizure recurrence while transitioning off ketosis.
- •Patients behaviorally unable to hold still for imaging procedures (rather than limited by seizure activity) will be excluded.
研究组 & 干预措施
Triheptanoin
Triheptanoin (C7 oil, liquid) dosed at 1 g/kg body weight divided and administered 4 times per day via mouth or g-tube for 3 months.
干预措施: Triheptanoin (Drug)
结局指标
主要结局
Number of Participants With Reduction in Spike-wave Fraction of the EEG Recording Time
时间窗: 1 day
Visual analysis of EEG recording to determine the fraction of spike-range within the area of recording.
次要结局
- Number of Participants With Change in Brain Metabolic Rate After 3 Months(3 months)
研究者
Juan Pascual
Associate Professor, Director of the Rare Brain Disorders Program
University of Texas Southwestern Medical Center