Multiple Sclerosis
Conditions
Keywords
genomic analysis, online surveys, biological specimen collection
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.
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.
Interventions
None listed
Sponsors
Columbia University
University of Pittsburgh
Brigham and Women's Hospital
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Total number of subjects who are diagnosed with MS | 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. |
Countries
United States
Contacts
CONTACTJuliana Oyegunle
STUDY_DIRECTORZongqi Xia, MD, PhD
University of Pittsburgh
Outcome results
None listed