Opsoclonus-myoclonus Syndrome
Conditions
Keywords
paraneoplastic, neuroblastoma, Kinsbourne syndrome, autoimmune disease, immunotherapy, ataxia
Brief summary
The purpose of this study is to determine if cytokines, inflammatory mediators, are increased in spinal fluid and blood, correlate with disease activity, and could serve as biomarkers or therapeutic targets in children with opsoclonus-myoclonus syndrome (OMS), an autoimmune complication of the tumor neuroblastoma.
Detailed description
In this translational research, immunological mechanisms that underlie the assault of the immune system on the brain in paraneoplastic opsoclonus-myoclonus syndrome (OMS) are under evaluation. To test our principal hypothesis that there is an imbalance of pro-inflammatory (Th1) and anti-inflammatory (Th2) cytokines in OMS, a comprehensive cytokine panel will be measured by enzyme-linked immunosorbent assay (ELISA) and multiplexed fluorescent bead-based immunoassay detection (LUMINEX 100 Lab MAP system)in blood and cerebrospinal fluid (CSF) of 400 children. To test the second hypothesis that cytokines could serve as biomarkers of disease activity in OMS, cytokine concentrations will be correlated with clinical variables, such as disease severity, OMS duration, prior relapses, and remissions, as well as immunological variables, such as lymphocyte subset analysis. The cytokine 'biomarker profile' could aid decision making for early intervention by identifying children at high risk for relapse and poor outcome and allow targeting of the most implicated inflammatory cytokines by cytokine therapies. To test our third hypothesis that lack of response to immunotherapy is due in part to failure to increase the expression of anti-inflammatory Th2 cytokines, we will make paired pre/post comparisons of the impact of immunotherapies given in the course of clinical care \[steroids, adrenocorticotropin (ACTH), intravenous immunoglobulins (IVIg), rituximab, chemotherapy, other drugs, combinations\] on the cytokine and clinical profile. This research could lead to the application of commercially-available cytokines and cytokine blockers or to the development of new ones for OMS.
Interventions
None listed
Sponsors
National Pediatric Neuroinflammation Organization, Inc.
Study design
Observational model
CASE_CONTROL
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
1 Years to 18 Years
Healthy volunteers
Yes
Inclusion criteria
* Clinical diagnosis of OMS
Exclusion criteria
* Equivocal diagnosis * Contraindications to lumbar puncture * Treatment with agents outside the scope of the study
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Reduction in inflammatory cytokines | 6 and 12 months | Reduction in the concentration of inflammatory chemokines/cytokines between clinical time points |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Correlation of cytokine concentration and clinical severity score. | 6 and 12 months | Statistical correlation of chemokine/cytokine concentration with OMS motor severity as measured using the OMS video evaluation scale |
Countries
United States
Outcome results
None listed