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Relating Genetic and Environmental Risk Scores to Multiple Sclerosis Susceptibility

This study is currently recruiting participants. (see Contacts and Locations)
Verified February 2014 by National Institutes of Health Clinical Center (CC)
Sponsor:
Collaborator:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT01617395
First received: June 8, 2012
Last updated: November 11, 2014
Last verified: February 2014
  Purpose

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.

Condition
Multiple Sclerosis

Study Type: Observational
Official Title: Integrating Genetic and Environmental Risk Scores Into an Algorithm to Predict Multiple Sclerosis Susceptibility

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Primary Outcome Measures:
  • The primary outcome is diagnosis of MS according to the 2010 revisions to the McDonald criteria.

Secondary Outcome Measures:
  • Secondary outcome measures include development of MS-like abnormalities on brain imaging studies, abnormalities on laboratory testing, and clinical symptoms and signs.

Estimated Enrollment: 6050
Study Start Date: April 2012
  Show Detailed Description

  Eligibility

Ages Eligible for Study:   18 Years to 50 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Criteria
  • INCLUSION CRITERIA:

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 100):

    • Referred by Harvard 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 Harvard as having a GERS in the top 20% of the overall GEMS study.
    • Willing to undergo additional study procedures at the NIH for 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 Branch 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=50)

    • Age 18-50, inclusive.
    • No known first-degree relative (parent, sibling, or child) with MS.
  • All cohorts

    • Able to give informed consent.

EXCLUSION CRITERIA:

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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01617395

Contacts
Contact: Rosalind Hayden, R.N. (301) 827-9002 ebingerre@mail.nih.gov
Contact: Daniel S Reich, M.D. (301) 496-1801 reichds@ninds.nih.gov

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010    prpl@mail.cc.nih.gov   
Sponsors and Collaborators
Investigators
Principal Investigator: Daniel S Reich, M.D. National Institutes of Health Clinical Center (CC)
  More Information

Additional Information:
Publications:
Responsible Party: National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier: NCT01617395     History of Changes
Other Study ID Numbers: 120122, 12-N-0122
Study First Received: June 8, 2012
Last Updated: November 11, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Multiple Sclerosis
Magnetic Resonance Imaging (MRI)

Additional relevant MeSH terms:
Disease Susceptibility
Multiple Sclerosis
Sclerosis
Autoimmune Diseases
Autoimmune Diseases of the Nervous System
Demyelinating Autoimmune Diseases, CNS
Demyelinating Diseases
Disease Attributes
Immune System Diseases
Nervous System Diseases
Pathologic Processes

ClinicalTrials.gov processed this record on November 20, 2014