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| Name | Class |
|---|---|
| University of Pittsburgh | OTHER |
| Brigham and Women's Hospital | OTHER |
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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.
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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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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 |
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| Measure | Description | Time Frame |
|---|---|---|
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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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.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Juliana Oyegunle | Contact | 212-305-2434 | jbo2120@cumc.columbia.edu |
| Name | Affiliation | Role |
|---|---|---|
| Zongqi Xia, MD, PhD | University of Pittsburgh | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| National Institute of Neurological Disorders and Stroke | Recruiting | Bethesda | Maryland | 15213 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 41700751 | Derived | 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. | |
| 28114441 | Derived | Xia 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. |
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| ID | Term |
|---|---|
| D009103 | Multiple Sclerosis |
| ID | Term |
|---|---|
| D020278 | Demyelinating Autoimmune Diseases, CNS |
| D020274 | Autoimmune Diseases of the Nervous System |
| D009422 | Nervous System Diseases |
| D003711 | Demyelinating Diseases |
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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).
| Massachusetts General Hospital | Terminated | Boston | Massachusetts | 02114 | United States |
| Brigham and Women's Hospital | Terminated | Boston | Massachusetts | 02115 | United States |
| Columbia University Irving Center | Recruiting | New York | New York | 10032 | United States |
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| University of Pittsburgh | Recruiting | Pittsburgh | Pennsylvania | 15213 | United States |
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| D001327 | Autoimmune Diseases |
| D007154 | Immune System Diseases |