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Protective Genetic Factors Against Neurological Diseases

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ClinicalTrials.gov Identifier: NCT03914599
Recruitment Status : Recruiting
First Posted : April 16, 2019
Last Update Posted : October 22, 2020
Sponsor:
Information provided by (Responsible Party):
Jun Li, Wayne State University

Study Description
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Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
Brief Summary:

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.


Condition or disease
Neurological Disorder Healthy Control

Study Design
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Study Type : Observational [Patient Registry]
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 5 Years
Official Title: Protective Genetic Factors Against Neurological Diseases
Actual Study Start Date : April 15, 2019
Estimated Primary Completion Date : April 15, 2029
Estimated Study Completion Date : April 15, 2034

Resource links provided by the National Library of Medicine


Groups and Cohorts
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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.


Outcome Measures
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Primary Outcome Measures :
  1. Association of human genetic variants with the fastest conduction speed in normal controls [ Time Frame: 5 years ]
    nerve conduction velocity as measured by electromyogram machine

  2. 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 [ Time Frame: 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.

  3. To test if the genetic variants associated with the fastest CV in the PNS protect some patients with CMT1A from developing severe disabilities [ Time Frame: 5 years ]
    neurological disability scores as assessed by Visser Neuropathy Score ranging from 0-68 with higher score indicating more severe disabilities.


Biospecimen Retention:   Samples With DNA
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.

Eligibility Criteria
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Ages Eligible for Study:   18 Years to 100 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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
Criteria

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.

Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03914599


Contacts
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Contact: Madeline Bross, BS 313-966-0473 mbross@med.wayne.edu

Locations
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United States, Michigan
Wayne State University Recruiting
Detroit, Michigan, United States, 48201
Contact: Madeline Bross, BS    313-966-0473    mbross@med.wayne.edu   
Sponsors and Collaborators
Wayne State University
More Information
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Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
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Responsible Party: Jun Li, Chair and Professor of Department of Neurology, Wayne State University
ClinicalTrials.gov Identifier: NCT03914599    
Other Study ID Numbers: 08675309
First Posted: April 16, 2019    Key Record Dates
Last Update Posted: October 22, 2020
Last Verified: October 2020

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Nervous System Diseases