Treatment Development of Triheptanoin for Glucose Transporter Type I Deficiency
试验速览
- 阶段
- 1 期
- 状态
- 撤回
- 发起方
- 试验地点
- 1
- 主要终点
- Change in risk for Metabolic Syndrome
研究概览
简要总结
This is a single-site, open-label, phase II trial of C7, a food supplement or medical food, for the development of treatment outcome measures for glucose transporter type I deficiency (G1D). The primary outcome measures are: 1. Safety and tolerability of C7 as measured by changes in comprehensive blood work, including lipid and free fatty acid panels, self-reported side effects and clinical exam; 2. Changes in brain metabolic rate by MRI and EEG measurements during C7 treatment; and 3. Maintenance of ketosis in G1D patients on ketogenic diet, as measured by serial ketone levels during treatment initiation.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Single Group
- 主要目的
- Basic Science
- 盲法
- None
入排标准
- 年龄范围
- 30 Months 至 55 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Diagnosis or suspected diagnosis of glucose transporter type I deficiency (G1D).
- •On stable ketogenic diet at a ratio between 1:2.5 and 1:4 OR Stable on no dietary therapy
- •Males and females 30 months to 55 years old, inclusive.
排除标准
- •Subjects with a history of life-threatening seizure episodes, including but not limited to status epilepticus and cardiac arrest.
- •Subjects with a BMI (body mass index) greater than or equal to 30 will be excluded.
- •Subjects currently on dietary therapy other than ketogenic diet (i.e., medium chain triglyceride-supplemented diets, Atkins diet, low glycemic index diet, etc.).
- •Women who are pregnant or breast-feeding may not participate. Women who plan to become pregnant during the course of the study, or who are unwilling to use birth control to prevent pregnancy (including abstinence) may not participate.
- •Allergy/sensitivity to triheptanoin.
- •Previous treatment with triheptanoin.
- •Treatment with medium chain triglycerides in the last 30 days.
- •Subjects exhibiting signs of dementia, or diagnosed with any degenerative brain disorder (such as Alzheimer's disease) that would confound assessment of cognitive changes, in the opinion of the investigator.
- •Active drug or alcohol use or dependence that, in the opinion of the investigator, would interfere with adherence to study requirements.
- •Patients with metal implants, experience claustrophobia, or who are behaviorally unable to be still for MRS (magnetic resonance spectroscopy) imaging (not due to seizures) will be excluded from the imaging portion of the research.
- •Inability or unwillingness of subject or legal guardian/representative to give written informed consent, or assent for children age 10-17.
研究组 & 干预措施
No Dietary Therapy
Patients currently on no dietary therapy will receive triheptanoin (C7 oil), dosed at 1 g/kg body weight and divided into 4 doses daily, administered for 6 months
干预措施: Triheptanoin (Drug)
Ketogenic Diet
Patients on ketogenic diet will receive triheptanoin (C7 oil) in place of their usual fat intake, at a dose sufficient to maintain their ketogenic diet ratio (based on patient weight and current ratio). Patients will receive triheptanoin for 6 months.
干预措施: Triheptanoin (Drug)
结局指标
主要结局
Change in risk for Metabolic Syndrome
时间窗: Baseline, 6 months, 9 months
Triglycerides, lipid levels, and cholesterol are measured to evaluate change in risk of metabolic syndrome
Change on Biomarkers
时间窗: Baseline, 6 months, 9 months
EEG and brain metabolic rate will be measured at three time points. Changes in these biomarkers indicate the utilization of triheptanoin in brain metabolism
Change in Ketosis
时间窗: baseline, 6 months, 9 months
Safety blood work (described in the first outcome measure) is measured along with ketone levels and EEG to confirm that triheptanoin is safe and does not break ketosis in patients on the ketogenic diet
次要结局
未报告次要终点
研究者
Juan Pascual
Associate Professor, Director of the Rare Brain Disorders Program
University of Texas Southwestern Medical Center