Protective Genetic Factors Against Neurological Diseases

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 Overview

• Status: Completed
• Conditions: Neurological Disorder; Healthy Control

• Study Type: Observational
• Enrollment (Actual): 124

Contacts and Locations

Study Locations

• United States
  • Michigan
    • Detroit, Michigan, United States, 48201
      • Wayne State University

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 100 years (ADULT, OLDER_ADULT)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Neurology clinic for participants with a diagnosis of a neurological disorder and fliers will be posted for healthy controls

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Neurological Disorder; For all neurological disorder participants an electromyography (EMG) study will be done to determine nerve conduction speed, and a blood draw will be completed for genetic (DNA) testing. Motor measures, cognitive measures and surveys will be completed to assess walking and brain processing speed. Four optional assessments will be offered and only completed if the participant consents to them and include: optical coherence tomography (pictures of the back of the eye), visual evoked potential (to evaluate the nerve pathways of the eye), brain MRI, and skin biopsy. For participants with a diagnosis of Charcot Marie Tooth (CMT) disease, they will have an additional Neuropathy Score to assess disease severity.
Healthy Control; An electromyography (EMG) study will be done to determine nerve conduction speed, and a blood draw will be completed for genetic (DNA) testing. Motor measures, cognitive measures and surveys will be completed to assess walking and brain processing speed. Four optional assessments will be offered and only completed if the participant consents to them and include: optical coherence tomography (pictures of the back of the eye), visual evoked potential (to evaluate the nerve pathways of the eye), brain MRI, and skin biopsy.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Association of human genetic variants with the fastest conduction speed in normal controls	nerve conduction velocity as measured by electromyogram machine	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.	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.	5 years

Collaborators and Investigators

• Sponsor: Wayne State University

Study record dates

Study Major Dates

• Study Start (ACTUAL): April 15, 2019
• Primary Completion (ACTUAL): July 11, 2022
• Study Completion (ACTUAL): July 11, 2022

Study Registration Dates

• First Submitted: April 1, 2019
• First Submitted That Met QC Criteria: April 10, 2019
• First Posted (ACTUAL): April 16, 2019

Study Record Updates

• Last Update Posted (ACTUAL): July 18, 2022
• Last Update Submitted That Met QC Criteria: July 15, 2022
• Last Verified: July 1, 2022

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases
• Other Study ID Numbers: 08675309

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No