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Genes and Environment in Multiple Sclerosis (GEMS)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01353547
Recruitment Status : Recruiting
First Posted : May 13, 2011
Last Update Posted : January 28, 2016
Massachusetts General Hospital
Harvard Medical School
National Institutes of Health (NIH)
Information provided by (Responsible Party):
Philip De Jager, Brigham and Women's Hospital

Brief Summary:
The purpose of the research study is to identify the genetic, environmental and immune profiles that may increase a person's risk of developing multiple sclerosis (MS). While MS is not a disease caused by a single variation in genetic material (DNA), a single environmental factor, or a single malfunction in immune cells, there are genetic alterations, environmental exposures and immunologic factors that make the development of MS more likely. Obtaining information about who is at risk for MS will be beneficial in the future if the investigators can identify effective ways to prevent or slow down the progression of this disease.

Condition or disease
Multiple Sclerosis

Detailed Description:

MS is an autoimmune disease in which the immune system (white bloods cells that normally fight infection) becomes misdirected and attacks healthy tissue. In patients with MS, the misdirected white blood cells attack myelin, a lining that insulates the nerves found in your brain and spinal cord. This results in inflammation and damage in the myelin. Loss of this protective lining disrupts nerve impulses and causes abnormal function in the nervous system.

This large research study will ultimately enroll over 5000 subjects who are at risk of developing MS.

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Study Type : Observational
Estimated Enrollment : 5000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Integrating Genetic and Environmental Risk Scores Into an Algorithm to Predict Multiple Sclerosis Susceptibility
Study Start Date : March 2010
Estimated Primary Completion Date : March 2018
Estimated Study Completion Date : March 2020

Resource links provided by the National Library of Medicine

Received anti-TNFa therapy
Received anti-TNFa therapy
First-degree relative of MS patients
First-degree relative (child, parent or sibling) of a diagnosed MS patient
Referred by the Partners MS Center
Referred by the Partners MS Center

Primary Outcome Measures :
  1. Brain MRI after recruiting 2200 subjects and calculating their genetic and environmental risk score of Multiple Sclerosis. [ Time Frame: 5 years ]
    Genetic and Environmental Risk Score (GERS) will be calculated based on answers given in subject questionnaire and DNA collected from saliva sample. The questionnaire is about their neurologic and family history and potential environmental exposures. Subjects with the top and bottom 10% of GERS will undergo a single draw of up to 120 cc blood for analysis of immunologic markers. Subjects with the top and bottom 2.5% of GERS will undergo brain MRI to assess for asymptomatic MS-like lesions.

Biospecimen Retention:   Samples With DNA
Saliva Sample (required), Blood Sample (optional)

Information from the National Library of Medicine

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, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years to 50 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
This large research study will ultimately enroll over 5000 subjects who are at risk of developing MS. The study will last 20 years. We will recruit subjects from all over the United States, as everything is done via mail, email, or/and phone.

Inclusion Criteria:

  • First Degree Relatives of Patients with MS, or
  • Patients who have received anti-TNFa therapy as treatment for inflammatory diseases other than MS such as Crohn's disease, psoriasis and rheumatoid arthritis, or
  • Patients that have been referred for an evaluation of first presentation of neurologic symptoms but do not have a diagnosis of MS
  • Live in the United States

Exclusion Criteria:

  • Does not match any of the inclusion criteria

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 identifier (NCT number): NCT01353547

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Contact: GEMS Coordinator, BS 617-264-5980

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United States, Massachusetts
Emily Owen Recruiting
Boston, Massachusetts, United States, 02115
Contact: Emily K Owen, BS    617-264-5980   
Principal Investigator: Philip L De Jager, MD, PhD         
Sponsors and Collaborators
Brigham and Women's Hospital
Massachusetts General Hospital
Harvard Medical School
National Institutes of Health (NIH)
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Study Director: Xongqi Xia, MD, PhD Brigham and Womens Hospital

Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: Philip De Jager, Philip De Jager, M.D., Ph.D, Brigham and Women's Hospital Identifier: NCT01353547     History of Changes
Other Study ID Numbers: 2009p002561
First Posted: May 13, 2011    Key Record Dates
Last Update Posted: January 28, 2016
Last Verified: January 2016

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