Ketones & Mitochondrial Heteroplasmy
试验速览
- 阶段
- 早期 1 期
- 状态
- 已完成
- 入组人数
- 13
- 试验地点
- 2
- 主要终点
- Heteroplasmy
研究概览
简要总结
The current study is a prospective evaluation of the ability of ketosis to shift mitochondrial DNA (mtDNA) heteroplasmy in subjects harboring a known mutation in their mtDNA at position 3243 (A>G). Subjects will be given supplemental medium chain triglycerides (MCTs) for a period of 6 months. mtDNA heteroplasmy will be measured 3 months prior to treatment, at treatment initiation, and 6 months after initiation.
The primary objective of the current study is to determine if there is a shift in heteroplasmy in patients harboring the 3243 A>G mtDNA mutation to a more favorable (higher wild-type) profile while in a state of ketosis.
详细描述
The current study is a prospective evaluation of the ability of ketosis to shift mitochondrial DNA (mtDNA) heteroplasmy in subjects harboring a known pathogenic mutation in their mtDNA at position 3243 (A>G). Subjects will be induced in to ketosis by administration of supplemental medium chain triglycerides (MCTs) for a period of 6 months. mtDNA heteroplasmy will be assessed 3 months prior to treatment, at treatment initiation, and 6 months after initiation.
The primary objective of the current study is to determine if there is a shift in heteroplasmy in patients harboring the 3243 A>G mtDNA mutation to a more favorable (higher wild-type) genotypic profile while in a state of ketosis.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Subject is informed and given ample opportunity to consider his/her participation and has given his/her written consent.
- •Subject is willing and able to comply with all trial requirements.
- •Subject harbors the 3243 A>G mtDNA mutation at a level detectable in blood.
- •Female subjects of child-bearing potential must not be pregnant. Female subjects of child-bearing potential (not surgically sterile or 2 years post-menopausal) must also agree to use appropriate contraceptive methods (abstinence, oral, injectable, implantable, or barrier) for the duration of the trial.
- •Subject must not have diabetes mellitus.
排除标准
- •Subject is currently participating or has participated within the last 2 months in any clinical trial involving treatment of mitochondrial disorders with MCT supplementation or induction of ketosis.
- •Subject has a medical condition that could reasonably be exacerbated by ketone supplementation (including diabetes mellitus).
- •Subject is unable to give reasonable informed consent/assent.
- •Subject is a pregnant or nursing female.
结局指标
主要结局
Heteroplasmy
时间窗: 9 months
Blood samples will be used to measure the degree of mitochondrial DNA heteroplasmy
次要结局
未报告次要终点
研究者
Mary Kay Koenig
Principle Investigator
The University of Texas Health Science Center, Houston