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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.
 
ClinicalTrials.gov Identifier: NCT01353547
Recruitment Status : Recruiting
First Posted : May 13, 2011
Last Update Posted : March 25, 2020
Sponsor:
Collaborators:
University of Pittsburgh
Brigham and Women's Hospital
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Philip De Jager, Columbia University

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 the 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 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
Actual Study Start Date : October 1, 2017
Estimated Primary Completion Date : October 2040
Estimated Study Completion Date : October 2040

Resource links provided by the National Library of Medicine


Group/Cohort
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

A subgroup will be asked to undergo magnetic resonance imaging (MRI). Participants may be asked to donate a stool sample for gut flora analysis and a blood sample for ribonucleic acid (RNA) sequencing.

Referred by the Partners MS Center
Referred by the Partners MS Center



Primary Outcome Measures :
  1. Total number of subjects who are diagnosed with MS [ Time Frame: 20 years ]
    For each subject, weighted integrated risk score will be calculated, combining genetic burden and environmental exposure. A distribution of the risk score will be generated for the cohort. At this stage, the study will assess whether there is an increase in subjects with a diagnosis of MS (validated by a letter or copy of clinical records from the subject's neurologist) within the higher end vs. the lower end of the risk score distribution.


Biospecimen Retention:   Samples With DNA
Saliva Sample (required), Blood Sample (optional), Stool Sample (optional) Biospecimen collection is done remotely by mailing kits to subjects. Coded samples are stored at Columbia University Medical Center (CUMC).


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 and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
This large research study will ultimately enroll over 10000 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.
Criteria

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 ClinicalTrials.gov identifier (NCT number): NCT01353547


Contacts
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Contact: Ines Aguerre, BS 212-304-1548 ima2122@cumc.columbia.edu
Contact: Kaho Onomichi 212-305-9155 ko2418@cumc.columbia.edu

Locations
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United States, Maryland
National Institute of Neurological Disorders and Stroke Recruiting
Bethesda, Maryland, United States, 15213
Principal Investigator: Daniel S Reich, MD, PhD         
United States, Massachusetts
Massachusetts General Hospital Terminated
Boston, Massachusetts, United States, 02114
Brigham and Women's Hospital Terminated
Boston, Massachusetts, United States, 02115
United States, New York
Columbia University Medical Center Recruiting
New York, New York, United States, 10032
Contact: Ines Aguerre, BS    212-304-1548    ima2122@cumc.columbia.edu   
Principal Investigator: Philip L De Jager, MD, PhD         
United States, Pennsylvania
University of Pittsburgh Recruiting
Pittsburgh, Pennsylvania, United States, 15213
Principal Investigator: Zongqi Xia, MD, PhD         
Sponsors and Collaborators
Columbia University
University of Pittsburgh
Brigham and Women's Hospital
National Institute of Neurological Disorders and Stroke (NINDS)
Investigators
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Study Director: Zongqi Xia, MD, PhD University of Pittsburgh
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: Philip De Jager, Professor of Neurology, Columbia University
ClinicalTrials.gov Identifier: NCT01353547    
Other Study ID Numbers: AAAR4456
First Posted: May 13, 2011    Key Record Dates
Last Update Posted: March 25, 2020
Last Verified: March 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Product Manufactured in and Exported from the U.S.: Yes
Keywords provided by Philip De Jager, Columbia University:
genomic analysis
online surveys
biological specimen collection
Additional relevant MeSH terms:
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Multiple Sclerosis
Sclerosis
Pathologic Processes
Demyelinating Autoimmune Diseases, CNS
Autoimmune Diseases of the Nervous System
Nervous System Diseases
Demyelinating Diseases
Autoimmune Diseases
Immune System Diseases