Clinical trial NCT05056740: Combined Analysis of Inflammatory Biomarkers for CNS Autoimmune Diseases Diagnostic
Official title: Evaluation of a Combined Analysis of Serum and Cerebrospinal Fluid Inflammatory Biomarkers to Help in Etiological Diagnosis of Central Nervous System Autoimmune Diseases
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Central Nervous System Diseases
Lead sponsor: Centre Hospitalier Universitaire de Nice
Sponsor class: OTHER
First posted: 2021-09-24
Enrollment: 300
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: All patients referred to our MS tertiary center for the diagnostic work-up of white matter hyperintensities suggestive of underlying inflammatory demyelinating disease

Brief summary: Project rationale:

Since 2017, multiple sclerosis diagnosis should match the new McDonald criteria in which a "no better explanation than MS" should be fulfilled. However, many patients present with red flags that lead to a complex diagnostic work-up. There are no available biomarkers that permit to confirm or roll out MS diagnosis in such cases. Therefore, we lack biological markers that can help in the diagnosis of patients presenting with suspected MS.

Many studies have found that serum and cerebrospinal fluid (CSF) cytokines could help to differentiate MS from other diseases such as neuromyelitis optica spectrum disorders (i.e., IL-6) or neurosarcoidosis (i.e., sIL-2R). Serum and CSF kappa free light chains have also shown good diagnosis performance in MS. In daily practice, our MS tertiary center already perform the analysis of CSF concentrations of IL-1β, sIL-2R, IL-6, IL-10, and serum and CSF kappa and lambda free light chains to roll out other central nervous system (CNS) autoimmune diseases in patients presenting with white matter hyperintensities (WMH).

Objective:

To correlate CSF IL-1β, sIL-2R, IL-6, IL-10, serum and CSF kappa and lambda free light chains with the final diagnosis in patients presenting to our MS tertiary center with suspected MS to identify a specific inflammatory biomarker profil involved in MS and other CNS autoimmune diseases.

The methodology:

This is an observational study. All patients ongoing a routine diagnostic work-up for suspected MS from june 2020 to june 2022 in our MS tertiary center will be analyzed. Cerebrospinal fluid IL-1β, sIL-2R, IL-6, IL-10, serum and CSF kappa and lambda free light chains will be correlated with the final diagnosis to ultimately find MS associated biomarkers.


Eligibility criteria: Inclusion Criteria:

* Patients referred to our center for the diagnostic work-up of White Matter Lesions
* Patients that need a routine blood analysis
* Patients that need a routine CSF analysis
* Non opposition to research consent

Exclusion Criteria:

* Patients with a contraindication to perform spinal tap (increase bleeding risk medicine or disease)
* Patients with a contraindication to MRI (metal prosthesis...)

Primary outcomes:
measure: Identify specific biomarkers profil in MS group
timeFrame: 1 day
Secondary outcomes:
measure: To define the diagnosis performance of "Central vein sign (CVS)" in Radiologically Isolated Syndrome subjects compared to MS patients and patients with WM abnormalities of another origin.
timeFrame: 1 day
Other outcomes:
Locations:
city: Nice
country: France
facility: Centre Hospitalier Universitaire de Nice
Study officials:
References: