Mitochondrial Encephalomyopathies and Mental Retardation: Investigations of Clinical Syndromes Associated With MtDNA Point Mutations
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 300
- 试验地点
- 1
- 主要终点
- MRI/MRS
研究概览
简要总结
Carriers of the m.3242A>G mutation often have clinical symptoms which can include migraines, seizures, strokes, hearing loss, balance issues, gastrointestinal issues, and many other symptoms. The investigators would like to learn more about these disorders and have designed a "Natural History Study" to monitor these conditions over time so that physicians and scientists can not only understand the problems that patients have, but work on developing treatments. The focus of the current work is to evaluate known mutation carriers of the m.3243A>G (mitochondrial DNA) and their maternal relatives (carrier status not a requirement for participation). Paternal relatives will serve as controls. This study involves no treatment.
详细描述
The purpose of this study is to investigate the neurological and biochemical consequences of the m.3243 A>G mutation. Mitochondria are the powerhouses of the cell and are controlled by nuclear genetic material (DNA) and mitochondrial (mt) DNA. Mitochondrial DNA mutations impair mitochondrial function, and cause cellular energy failure. These mutations, when present in high abundance, cause neurological signs and symptoms that are clinically obvious. The investigators hypothesize that these mutations, when present in lesser abundance, will cause measurable alterations in the patient's neuropsychological profile and cerebral energy profile. This study does not involve any experimental or approved therapy. The investigators will evaluate the patient's condition with blood/urine tests, neurological exam, MRI/MRS, questionnaires, motor skills functioning, serum and urine biomarkers, and genetic testing.
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
- 4 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Known carrier of a the m.3243 A>G mitochondrial mutation, ,or Maternally related to someone who carries the m.3243A>G mitochondrial mutation.
- •A family member who is not maternally related to someone who carries the m.3243A>G mitochondrial mutation
排除标准
- •Younger than 4 years of age
- •No confirmed m.3243 A>G mitochondrial DNA mutation in the family.
研究组 & 干预措施
mtDNA mutation
m.3243 A>G carriers and their maternal relatives Other mutations in the mitochondrial genome may be included
Control
controls (people not maternally related to mutation carriers) Preference is for married in relatives
结局指标
主要结局
MRI/MRS
时间窗: 2-3 years
Evaluate structure and function in brain and muscle
次要结局
- Biomarkers(2-3 years)
- Mutation load(2-3 years)
- Motor skills(2-3 years)
- Cognitive function(2-3 years)
- Clinical symptoms(2-3 years)
研究者
Michio Hirano, MD
Professor of Neurology
Columbia University