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Protocol Details

Integrating Genetic and Environmental Risk Scores into an Algorithm to Predict Multiple Sclerosis Susceptibility

This study is NOT currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Institute of Neurological Disorders and Stroke (NINDS)

Recruitment Detail

Type: Completed Study; data analyses ongoing
Gender: Male & Female
Min Age: 18 Years
Max Age: N/A

Referral Letter Required


Population Exclusion(s)



Multiple Sclerosis;
Magnetic Resonance Imaging (MRI);
Natural History

Recruitment Keyword(s)



Multiple Sclerosis

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Institute of Neurological Disorders and Stroke


- Research shows that both genes and the environment influence a person s risk for getting multiple sclerosis (MS). However, it is not possible to accurately predict who will develop MS. Researchers want to study people with MS and their family members. They have developed a Genetic and Environmental Risk Score for MS. This score combines information from a person's medical history and genes. It also includes environmental factors that may be related to developing MS. This study will test this risk score to see if it can help predict who will develop MS.


- To evaluate a score for genetic and environmental risk factors that may help predict whether a person will develop MS.


- Individuals at least 18 years of age who have MS.

- Individuals between 18 to 50 years of age who are the parent, brother, sister, or child of a person with MS.


- People with MS will allow researchers to look at their personal and medical data. These data will have been collected in other MS-related studies.

- Relatives of people with MS will fill out a questionnaire and give blood and saliva samples. They will fill out the questionnaire again one year later.

-Some relatives will have additional optional testing. These tests will include a physical exam and imaging studies. There may also be other tests. These tests may be repeated every 1 to 5 years for 20 years.

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GEMS cohort (target n equals 1000)

-First-degree relative (parent, sibling, or child) of a self-reported MS patient.

-Age 18-50, inclusive, at the time of enrollment into the overall GEMS study.

-Willingness to be contacted regarding additional follow-up procedures.

-Cross-sectional subcohort (target n equal 150):

--Referred by Columbia University Medical Center as having a genetic and environmental risk score (GERS), defined in Section 4.1.1, in the top or bottom 20% of the overall GEMS study.

-NINDS Longitudinal subcohort (target n equal 100):

--Ages 18-40, inclusive.

--Referred by Columbia University Medical Center as having a GERS in the top 20% of the overall GEMS study.

--Willing to undergo additional study procedures at the NIH for up to 20 years, with planned follow-up every year for participants between ages 18 and 25, every 2 years for participants between ages 26 and 30, and every 5 years for participants between ages 31 and 40.

--Relative enrolled in NIH study with confirmation of MS diagnosis.

MS patient cohort (target n=1000):

-MS patients (NIH)

--Co-enrolled in another Neuroimmunology Clinic natural history protocol.

--Diagnosis confirmed at NIH.

--Age 18 or older.

-MS patient (non-NIH)

--First-degree relative (parent, sibling, or child) of an existing GEMS participant.

--Able and willing to send medical records associated with their MS diagnosis to NIH.

-Healthy volunteer cohort (target n=80)

--Age 18-50, inclusive.

--No known first-degree relative (parent, sibling, or child) with MS.

-All cohorts

--Able to give informed consent.


GEMS cohort

-Diagnosis of MS.

Cross-sectional and NINDS longitudinal subcohorts

-Contraindications to MRI scanning.

-Diagnosis of another central nervous system disease disease (CNS neoplasm, known cerebrovascular disease, known CNS degenerative diseases, or known CNS inflammatory diseases) at the time enrollment into the study.

-MS cohort (both)


-Healthy volunteer cohort

--Diagnosis of MS or another central nervous system (CNS neoplasm, cerebrovascular disease CNS degenerative diseases, or CNS inflammatory diseases) or a systemic disease that would interfere with the aims of this study.

--Contraindications to MRI scanning.

Eligible NIH employees and staff may participate.

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Ascherio A, Munger KL, Lennette ET, Spiegelman D, Hern(SqrRoot)(Degree)n MA, Olek MJ, Hankinson SE, Hunter DJ. Epstein-Barr virus antibodies and risk of multiple sclerosis: a prospective study. JAMA. 2001 Dec 26;286(24):3083-8.

Balcer LJ. Clinical practice. Optic neuritis. N Engl J Med. 2006 Mar 23;354(12):1273-80.

Chiappa KH. Use of evoked potentials for diagnosis of multiple sclerosis. Neurol Clin. 1988 Nov;6(4):861-80.

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Principal Investigator

Referral Contact

For more information:

Daniel S. Reich, M.D.
National Institute of Neurological Disorders and Stroke (NINDS)
(301) 496-1801

Jenifer E. Dwyer
National Institute of Neurological Disorders and Stroke (NINDS)
National Institutes of Health
Building 10
Room 5C429
10 Center Drive
Bethesda, Maryland 20892
(301) 496-3825

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1

Clinical Trials Number:


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