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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
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| 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 |
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Inclusion Criteria:
Exclusion Criteria:
Note: This study holds no additional risk for pregnant women and they will not be excluded.
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Neurology clinic for participants with a diagnosis of a neurological disorder and fliers will be posted for healthy controls
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Wayne State University | Detroit | Michigan | 48201 | United States |
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| ID | Term |
|---|---|
| D009422 | Nervous System Diseases |
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All research participants, including healthy control volunteers, will be asked to give their blood samples once they are enrolled into the study. Their DNA will be extracted from the blood samples and stored in the freezers at the Integrative Biosciences Center in Detroit, MI. All samples stored in the Biobank at iBIO will be frozen and kept for an indefinite amount of time. The participant cannot obtain or access the stored samples in the future nor will participants have access to information or test results obtained from their personal samples because personal identifiers will be removed from the samples.