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The goal of this study is to enroll 1000 participants with a history of Multiple Sclerosis into the MURDOCK Study (Duke IRB Pro00011196) as well as into the Multiple Sclerosis Cohort study (Duke IRB Pro00023791). All 1000 participants will answer a 4-page questionnaire administered by a trained study coordinator which is designed to collect information on the participant's diagnosis of Multiple Sclerosis. The goal of the study is to seek genetic explanations for response to treatment, progression of the disease, and biomarker validation.
Despite tremendous research efforts, the targets of immune response and the mechanisms for neuronal loss associated with MS have not been fully characterized. Although substantial advances have been made in the development of therapeutic treatments, the drugs currently available to MS patients do not significantly alter the long-term prognosis of the disease. Better markers that represent the biological activity of the disease process and response to therapy are desperately needed. MS is thought to be mediated by autoimmunity which causes demyelination and transection of axons throughout the brain and spinal cord resulting in the formation of multiple scars (or scleroses) on axon myelin sheaths and reducing electrical conductivity and decreased CNS signaling. It is most common in young adults; more than 90% of patients are diagnosed before the age of 55 and less than 5% before the age of 14. Females are 2-3 times more frequently affected than males and children of affected females are at a significantly higher risk of developing MS than children of affected males. A strong genetic component is suggested by the co-occurrence of cases within families and the high disease prevalence in some ethnic populations (particularly those of northern European origin) compared with others (African and Asian groups) irrespective of geographic location.7 The incidence of MS in northern Europe, where the genetically associated haplotype HLA DR2 is most common, is as high as 1 per 750 individuals. MS affects more than 400,000 people in the U.S. and 2.5 million worldwide.
Although numerous putative MS-specific biomarkers, representing different mechanisms of pathogenesis and steps along the inflammatory cascade have been proposed, none have been fully validated. To date, the majority of studies identifying biomarkers associated with MS initiation or progression have been limited to investigation of one to several markers at a time; only one study has attempted open platform proteomic profiling in MS; however, the study size was relatively small and the clinical homogeneity of the dataset of the study is not clear. To understand a complex disease like MS, high throughput technologies capable of profiling multiple etiological changes is needed as well as a well-define population of those with the disease.
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| Measure | Description | Time Frame |
|---|---|---|
| Serum-based proteomic biomarkers associated with disease initiation and progression in MS | Biological material (serum, urine, whole blood and Paxgene RNA) collected in the MURDOCK Study(Pro00011196) will permit the initiation of a biomarker discovery project for all patients consented under the MS cohort protocol. Participants in this study will be followed for 5 years after consent with additional blood draws and questionnaires occurring biannually during this period. | 5 years |
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Inclusion Criteria:
Exclusion Criteria:
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Participants must enroll or have enrolled in the MURDOCK Study Community Registry and Biorepository prior to joining the Multiple Sclerosis Cohort. At the MURDOCK Study visit, or after the participant has enrolled in the MURDOCK Study, they will be asked (either in person or via the phone) if they would be willing to join the Multiple Sclerosis cohort study.
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| Name | Affiliation | Role |
|---|---|---|
| Simon Gregory, PhD | Duke Medicine Site Based Research Group | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Carolinas Medical Center Northeast Medical Arts Building | Concord | North Carolina | 28025 | United States | ||
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| ID | Term |
|---|---|
| D009103 | Multiple Sclerosis |
| D018450 | Disease Progression |
| D012008 | Recurrence |
| D004194 | Disease |
| 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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7.5 mL PaxGene RNA collection 6 mL DNA whole blood collection 40 mL urine collection 20 mL serum SST tube collection 16 mL plasma EDTA tube collection
| Ada Jenkins Center |
| Davidson |
| North Carolina |
| 28036 |
| United States |
| The Stedman Center on the Duke Center for Living Campus | Durham | North Carolina | 27705 | United States |
| Kannapolis Internal Medicine | Kannapolis | North Carolina | 28081 | United States |
| Raleigh Neurology Associates | Raleigh | North Carolina | 27607 | United States |
| D001327 | Autoimmune Diseases |
| D007154 | Immune System Diseases |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |