Protective Genetic Factors Against Neurological Diseases
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 124
- 试验地点
- 1
- 主要终点
- The cluster of genetic variants associated with the fastest conduction velocity in normal controls versus those altered in patients with neurological diseases will be characterized
研究概览
简要总结
NIH Precision Medicine Initiative, started in May 2018, will enroll one million people through an online portal. It hopes to identify genetic variants affecting a variety of human phenotypic outcomes. A giant set of data like this may enable an association of genetic variants with a certain phenotype. However, the association is often compromised due to the collection of phenotypic data that is not well controlled or standardized creating "noisy" data. These phenotypic "noises" can be largely eliminated in clinical studies with stringent criteria and standardization of outcome measurements.
In this study, by looking mainly at genetic information and nerve conduction speed, we hope to eliminate the extra "noises" in the data set. Eliminating the extra "noises" should allow us to be able to determine if there are genetic differences between neurological disorders and healthy controls, and if these genetic differences can be attributed to the speed of the nerve conduction.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 100 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Diagnosis of a neurological disorder - Inherited Peripheral Neuropathy, Charcot Marie Tooth, Multiple Sclerosis, or Parkinson's Disease
- •Healthy volunteers with no history of medical conditions known to afflict the nervous system will be recruited as normal controls.
- •Age 18-100 (Inclusive)
- •Able to undergo MRI
- •Medically Stable
排除标准
- •Any subject unwilling to undergo genetic testing (DNA sampling)
- •Any subjects with history of peripheral nerve diseases or conditions known to affect the CNS, such as diabetes, stroke, thyroid disease, chemotherapy, renal failure, etc.
- •Note: This study holds no additional risk for pregnant women and they will not be excluded.
结局指标
主要结局
The cluster of genetic variants associated with the fastest conduction velocity in normal controls versus those altered in patients with neurological diseases will be characterized
时间窗: 5 years
nerve conduction velocity and neurological disability scores as assessed by Visser Neuropathy Score ranging from 0-68 with higher score indicating more severe disabilities.
Association of human genetic variants with the fastest conduction speed in normal controls
时间窗: 5 years
nerve conduction velocity as measured by electromyogram machine
To test if the genetic variants associated with the fastest CV in the PNS protect some patients with CMT1A from developing severe disabilities
时间窗: 5 years
neurological disability scores as assessed by Visser Neuropathy Score ranging from 0-68 with higher score indicating more severe disabilities.
次要结局
未报告次要终点
研究者
Jun Li
Chair and Professor of Department of Neurology
Wayne State University