Multiple SclerosisGEMSNCT01353547
Genes and Environment in Multiple Sclerosis
An observational study of Multiple Sclerosis, run by Columbia University at 5 sites in United States.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Multiple Sclerosis
- How many people
- 5,000 participants
- Where
- 5 sitesUnited States
- Study dates
- 1 Oct 2017to Oct 2040
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- Does not match any of the inclusion criteria
Trial locations and contacts
5 sites in 1 country. Contact the study team or a site near you to ask about taking part.
5 sites in 1 country
United States5 sites, 3 recruiting
- Recruiting
National Institute of Neurological Disorders and Stroke
Bethesda, Maryland, 15213
Daniel S Reich, MD, PhD
- Terminated
Massachusetts General Hospital
Boston, Massachusetts, 02114
- Terminated
Brigham and Women's Hospital
Boston, Massachusetts, 02115
- Recruiting
Columbia University Irving Center
New York, New York, 10032
Juliana Oyegunle, 212-305-2434, jbo2120@cumc.columbia.edu
Philip L De Jager, MD, PhD
- Recruiting
University of Pittsburgh
Pittsburgh, Pennsylvania, 15213
Zongqi Xia, MD, PhD
About this study
Official title: Integrating Genetic and Environmental Risk Scores Into an Algorithm to Predict Multiple Sclerosis Susceptibility
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.
Read the 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.
- Conditions
- Multiple Sclerosis
- Keywords
- genomic analysis, online surveys, biological specimen collection
- Medical subject headings
- Multiple Sclerosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 20 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 May 2011 (estimated)
- Study start1 Oct 2017
- Primary completionOct 2040 (estimated)
- Study completionOct 2040 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Multiple SclerosisStudies of the same condition, open and under way.
- More trials run by Columbia UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 5,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Columbia University
- Sponsor type
- University, hospital or other
- Collaborators
- University of Pittsburgh, Brigham and Women's Hospital
- Responsible party
- Principal investigator, Philip De Jager, Columbia University
- Investigators
- Zongqi Xia, MD, PhD, Study director, University of Pittsburgh
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01353547
- Sponsor's protocol ID
- AAAR4456
- Acronym
- GEMS
- Status last verified
- May 2026
- First submitted
- 11 May 2011
- Last updated
- 14 May 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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 17:10.1002/acn3.70340. doi: 10.1002/acn3.70340. Online ahead of print.
PubMed 41700751Xia 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.
PubMed 28114441
Study at a glance
From the registry record, last updated by the sponsor on 14 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Integrating Genetic and Environmental Risk Scores Into an Algorithm to Predict Multiple Sclerosis Susceptibility
- ClinicalTrials.gov ID
- NCT01353547
- Acronym / sponsor ID
- GEMS / AAAR4456
- Conditions
- Multiple Sclerosis
- Keywords
- genomic analysis, online surveys, biological specimen collection
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 5,000 participants (estimated)
- Lead sponsor
- Columbia UniversityUniversity, hospital or other
- Collaborators
- University of Pittsburgh, Brigham and Women's Hospital
- Study start
- 1 Oct 2017 (actual)
- Primary completion
- Oct 2040 (estimated)
- Study completion
- Oct 2040 (estimated)
- First posted
- 13 May 2011 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (1 listed)
- Does not match any of the inclusion criteria
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 May 2026.
- Derived from this study: PubMed 41700751Laitinen 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 17:10.1002/acn3.70340. doi: 10.1002/acn3.70340. Online ahead of print.
- Derived from this study: PubMed 28114441Xia 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Zongqi Xia, MD, PhD study director
University of Pittsburgh
5 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Multiple Sclerosis, run by Columbia University at 5 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 14 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Juliana Oyegunle (212-305-2434, jbo2120@cumc.columbia.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Total number of subjects who are diagnosed with MS (time frame: 20 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01353547, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 May 2026.