Relating Genetic and Environmental Risk Scores to Multiple Sclerosis Susceptibility

NCT01617395 | Completed

• 2 other identifiers: 12012212-N-0122
• Study Type: observational
• Target: 181
• Locations: 1 country
• Sites: 1

Brief Summary

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

• 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. Design:
• 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.

Conditions

Multiple Sclerosis

Keywords

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

Outcome Measures

Primary Outcomes (2)

• presence or absence of lesions on T2-weighted brain MRI

  For participants in the cross-sectional cohort, which consists of individuals at highest and lowest risk for MS, the primary outcome measure is the presence or absence of lesions on T2-weighted brain MRI that meet the 2010 MRI criteria for dissemination in space.

  ongoing

• GERS

  For participants in the overall GEMS study, the primary outcome measure is the GERS itself, as most participants in this cohort will not undergo further testing.

  ongoing

Secondary Outcomes (4)

• The time lag between the appearance of asymptomatic radiological and laboratory abnormalities and the onset of clinical symptoms;

  ongoing

• The time lag between defined exposures

  ongoing

• exploratory clinical, imaging, biological data in the cross sectional

  ongoing

• development of MS-like abnormalities on brain imaging studies, abnormalities on laboratory testing, and clinical symptoms and signs.

  ongoing

Study Arms (3)

GEMS cohort

Individuals at risk for developing MS

Healthy volunteer cohort

healthy volunteers, ages 18-50, who do not have a known first-degree relative with MS

MS patient cohort

MS patients whose first-degree relatives are enrolled in this study

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Primary clinical

You may qualify if:

• 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.

You may not qualify if:

• 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)
• None
• 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.

Sponsors & Collaborators

• National Institute of Neurological Disorders and Stroke (NINDS): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Ascherio A, Munger KL, Lennette ET, Spiegelman D, Hernan 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. doi: 10.1001/jama.286.24.3083.

  PMID: 11754673 BACKGROUND

• Balcer LJ. Clinical practice. Optic neuritis. N Engl J Med. 2006 Mar 23;354(12):1273-80. doi: 10.1056/NEJMcp053247. No abstract available.

  PMID: 16554529 BACKGROUND

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

  PMID: 3070342 BACKGROUND

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Multiple Sclerosis

Condition Hierarchy (Ancestors)

Demyelinating Autoimmune Diseases, CNS; Autoimmune Diseases of the Nervous System; Nervous System Diseases; Demyelinating Diseases; Autoimmune Diseases; Immune System Diseases

Study Officials

• Daniel S Reich, M.D.

  National Institute of Neurological Disorders and Stroke (NINDS)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 8, 2012
• First Posted: June 12, 2012
• Study Start: August 15, 2012
• Last Updated: April 9, 2026

Record last verified: 2026-04-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)