Relating Genetic and Environmental Risk Scores to Multiple Sclerosis Susceptibility
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT01617395|
Recruitment Status : Recruiting
First Posted : June 12, 2012
Last Update Posted : April 25, 2018
|First Submitted Date||June 8, 2012|
|First Posted Date||June 12, 2012|
|Last Update Posted Date||April 25, 2018|
|Study Start Date||May 30, 2012|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures
||The primary outcome is diagnosis of MS according to the 2010 revisions to the McDonald criteria.|
|Original Primary Outcome Measures||Not Provided|
|Change History||Complete list of historical versions of study NCT01617395 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures
||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||Not Provided|
|Current Other Outcome Measures||Not Provided|
|Original Other Outcome Measures||Not Provided|
|Brief Title||Relating Genetic and Environmental Risk Scores to Multiple Sclerosis Susceptibility|
|Official Title||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 three 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 may 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 Clinic clinical protocols.
NIH is a unique site within the overall GEMS study, for the following reasons: (1) It is the only site at which imaging is being 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) 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, may well 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; (3) The time lag between the appearance of asymptomatic radiological and laboratory abnormalities and the onset of clinical symptoms; and (4) Additional exploratory clinical, imaging, and biological data in the crosssectional that may suggest subclinical MS disease activity.
|Study Design||Time Perspective: Other|
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Study Groups/Cohorts||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Original Estimated Enrollment
|Study Completion Date||Not Provided|
|Primary Completion Date||Not Provided|
GEMS cohort (target n equals 1000)
MS patient cohort (target n=1000):
-Diagnosis of MS.
Cross-sectional and NINDS longitudinal subcohorts
|Ages||18 Years to 50 Years (Adult)|
|Accepts Healthy Volunteers||Yes|
|Listed Location Countries||United States|
|Removed Location Countries|
|Other Study ID Numbers||120122
|Has Data Monitoring Committee||Not Provided|
|U.S. FDA-regulated Product||Not Provided|
|IPD Sharing Statement||Not Provided|
|Responsible Party||National Institutes of Health Clinical Center (CC)|
|Study Sponsor||National Institutes of Health Clinical Center (CC)|
|Collaborators||National Institute of Neurological Disorders and Stroke (NINDS)|
|PRS Account||National Institutes of Health Clinical Center (CC)|
|Verification Date||April 18, 2018|