Protective Genetic Factors Against Neurological Diseases

Wayne State University

Status: Completed

Conditions: Healthy Control; Neurological Disorder

Study type: Observational

Funder types: Other

Identifiers

NCT03914599

08675309

Details and patient eligibility

About

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.

Enrollment: 124 patients

Sex: All

Ages: 18 to 100 years old

Volunteers: Accepts Healthy Volunteers

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.

Trial design

124 participants in 2 patient groups

Neurological Disorder

Description:

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

Description:

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.