Genes and Environment in Multiple Sclerosis
GEMS
Integrating Genetic and Environmental Risk Scores Into an Algorithm to Predict Multiple Sclerosis Susceptibility
1 other identifier
observational
5,000
1 country
5
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Oct 2017
Longer than P75 for all trials
5 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
May 11, 2011
CompletedFirst Posted
Study publicly available on registry
May 13, 2011
CompletedStudy Start
First participant enrolled
October 1, 2017
CompletedPrimary Completion
Last participant's last visit for primary outcome
October 1, 2040
ExpectedStudy Completion
Last participant's last visit for all outcomes
October 1, 2040
May 14, 2026
May 1, 2026
23 years
May 11, 2011
May 12, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Total number of subjects who are diagnosed with MS
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.
20 years
Study Arms (3)
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
Eligibility Criteria
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.
You may qualify if:
- 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
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Columbia Universitylead
- University of Pittsburghcollaborator
- Brigham and Women's Hospitalcollaborator
Study Sites (5)
National Institute of Neurological Disorders and Stroke
Bethesda, Maryland, 15213, United States
Massachusetts General Hospital
Boston, Massachusetts, 02114, United States
Brigham and Women's Hospital
Boston, Massachusetts, 02115, United States
Columbia University Irving Center
New York, New York, 10032, United States
University of Pittsburgh
Pittsburgh, Pennsylvania, 15213, United States
Related Publications (2)
Laitinen AW, Tozlu C, Roostaei T, Diallo F, Onomichi K, Son J, Xia Z, De Jager PL. A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies. Ann Clin Transl Neurol. 2026 Feb 17. doi: 10.1002/acn3.70340. Online ahead of print.
PMID: 41700751DERIVEDXia Z, Steele SU, Bakshi A, Clarkson SR, White CC, Schindler MK, Nair G, Dewey BE, Price LR, Ohayon J, Chibnik LB, Cortese IC, De Jager PL, Reich DS. Assessment of Early Evidence of Multiple Sclerosis in a Prospective Study of Asymptomatic High-Risk Family Members. JAMA Neurol. 2017 Mar 1;74(3):293-300. doi: 10.1001/jamaneurol.2016.5056.
PMID: 28114441DERIVED
Biospecimen
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).
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- STUDY DIRECTOR
Zongqi Xia, MD, PhD
University of Pittsburgh
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Professor of Neurology
Study Record Dates
First Submitted
May 11, 2011
First Posted
May 13, 2011
Study Start
October 1, 2017
Primary Completion (Estimated)
October 1, 2040
Study Completion (Estimated)
October 1, 2040
Last Updated
May 14, 2026
Record last verified: 2026-05
Data Sharing
- IPD Sharing
- Will not share