Relating Genetic and Environmental Risk Scores to Multiple Sclerosis Susceptibility
|First Received Date ICMJE||June 8, 2012|
|Last Updated Date||March 14, 2014|
|Start Date ICMJE||April 2012|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures ICMJE
||The primary outcome is diagnosis of MS according to the 2010 revisions to the McDonald criteria.|
|Original Primary Outcome Measures ICMJE||Not Provided|
|Change History||Complete list of historical versions of study NCT01617395 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures ICMJE
||Secondary outcome measures include development of MS-like abnormalities on brain imaging studies, abnormalities on laboratory testing, and clinical symptoms and signs.|
|Original Secondary Outcome Measures ICMJE||Not Provided|
|Current Other Outcome Measures ICMJE||Not Provided|
|Original Other Outcome Measures ICMJE||Not Provided|
|Brief Title ICMJE||Relating Genetic and Environmental Risk Scores to Multiple Sclerosis Susceptibility|
|Official Title ICMJE||Integrating Genetic and Environmental Risk Scores Into an Algorithm to Predict Multiple Sclerosis Susceptibility|
- Research shows that both genes and the environment influence a person s risk for getting multiple sclerosis (MS). However, it is not possible to accurately predict who will develop MS. Researchers want to study people with MS and their family members. They have developed a Genetic and Environmental Risk Score for MS. This score combines information from a person's medical history and genes. It also includes environmental factors that may be related to developing MS. This study will test this risk score to see if it can help predict who will develop MS.
- To evaluate a score for genetic and environmental risk factors that may help predict whether a person will develop MS.
Objective. The overall objective of this study is to investigate the genetic, immune, and neuroimaging profiles that may increase a person s risk of developing multiple sclerosis (MS) in order to identify and validate predictive biomarkers in populations at risk for this disorder.
Study population. There will be two study populations:
Design. This is a prospective cohort natural-history study. All GEMS participants will complete the following study procedures, which can be performed offsite: informed consent; study questionnaire; saliva sample; and blood draw. The questionnaire will be repeated 1 year after enrollment.
There will two additional substudies conducted at NIH: a cross-sectional substudy and a longitudinal substudy. Participants in these substudies will be evaluated with clinical, radiological, and laboratory procedures. Participants in the cross-sectional cohort will undergo evaluation at the NIH at a single time point (with optional longitudinal follow up), whereas participants in the longitudinal cohort will undergo evaluation at the NIH for 20 years. There will be an interim analysis 5 years after the 50th participant is recruited to the longitudinal cohort, and the study of this cohort will be terminated if we have not observed the development of MS-related radiological or laboratory abnormalities in any of the participants. Participants with MS will provide informed consent to allow access to their own research data, but the data themselves will be (or will have already been) collected under other Neuroimmunology Branch clinical protocols.
NIH will be a unique site within the overall GEMS study, for the following reasons: (1) It will be the only site at which imaging will be performed, as part of the cross-sectional and longitudinal substudies; (2) GEMS participants seen at NIH may undergo additional procedures that are not part of the overall GEMS study; (3) The NIH substudy has a prospective design with built-in long-term follow-up on the longitudinal cohort, whereas the overall GEMS study has only one year of planned follow-up; (4) Data from participants in the NIH substudy will be directly linked to data from their own relatives with MS.
Outcome measures. For participants in the overall GEMS study, the primary outcome measure is the GERS itself, as most participants in this cohort will not undergo further testing. For participants in the cross-sectional cohort, which consists of individuals at highest and lowest risk for MS, the primary outcome measure is the presence or absence of lesions on T2-weighted brain MRI that meet the 2010 MRI criteria for dissemination in space a finding that, in this population, is likely to be related to MS. For participants in the longitudinal cohort, the study endpoint is a clinical diagnosis of MS according to the same 2010 criteria. Secondary outcome measures include: (1) The age at which participants develop MS-related abnormalities on brain imaging studies, abnormalities on laboratory testing, and clinical symptoms and signs; (2) The time lag between defined exposures (for example, infectious mononucleosis) and the appearance of MS-related radiological, laboratory, and clinical abnormalities; and (3) The time lag between the appearance of asymptomatic radiological and laboratory abnormalities and the onset of clinical symptoms.
|Study Type ICMJE||Observational|
|Study Design ICMJE||Not Provided|
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Condition ICMJE||Multiple Sclerosis|
|Intervention ICMJE||Not Provided|
|Study Group/Cohort (s)||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Recruitment Status ICMJE||Recruiting|
|Estimated Enrollment ICMJE||6000|
|Completion Date||Not Provided|
|Primary Completion Date||Not Provided|
|Eligibility Criteria ICMJE||
GEMS cohort (target n equals 1000)
-Able to give informed consent.
-Diagnosis of MS.
Cross-sectional and longitudinal subcohorts
|Ages||18 Years to 50 Years|
|Accepts Healthy Volunteers||Yes|
|Location Countries ICMJE||United States|
|NCT Number ICMJE||NCT01617395|
|Other Study ID Numbers ICMJE||120122, 12-N-0122|
|Has Data Monitoring Committee||Not Provided|
|Responsible Party||Not Provided|
|Study Sponsor ICMJE||National Institutes of Health Clinical Center (CC)|
|Collaborators ICMJE||National Institute of Neurological Disorders and Stroke (NINDS)|
|Information Provided By||National Institutes of Health Clinical Center (CC)|
|Verification Date||February 2014|
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP