Protective Genetic Factors Against Neurological Diseases

Wayne State University124 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

124

Conditions

Neurological Disorder Healthy Control

Eligibility

Sex: ALLMin age: 18 YearsMax age: 100 YearsHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: 1. Diagnosis of a neurological disorder - Inherited Peripheral Neuropathy, Charcot Marie Tooth, Multiple Sclerosis, or Parkinson's Disease 2. Healthy volunteers with no history of medical conditions known to afflict the nervous system will be recruited as normal controls. 3. Age 18-100 (Inclusive) 4. Able to undergo MRI 5. Medically Stable Exclusion Criteria: 1. Any subject unwilling to undergo genetic testing (DNA sampling) 2. 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.

Outcomes

Primary Outcomes

Association of human genetic variants with the fastest conduction speed in normal controls

nerve conduction velocity as measured by electromyogram machine

Time frame: 5 years

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

nerve conduction velocity and neurological disability scores as assessed by Visser Neuropathy Score ranging from 0-68 with higher score indicating more severe disabilities.

Time frame: 5 years

To test if the genetic variants associated with the fastest CV in the PNS protect some patients with CMT1A from developing severe disabilities

neurological disability scores as assessed by Visser Neuropathy Score ranging from 0-68 with higher score indicating more severe disabilities.

Time frame: 5 years

Protective Genetic Factors Against Neurological Diseases

Overview

Conditions

Eligibility

Locations (1)

Outcomes

Primary Outcomes