Clinical trial NCT04463550: GFAP Auto-immunity : a French Cohort Study
Official title: GFAP Auto-immunity : a French Cohort Study
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Autoimmune GFAP Astrocytopathy
Keywords: Acidic Protein IgG
astrocytopathy
meningoencephalomyelitis
perivascular-radial parenchymal enhancement
autoimmune
paraneoplasic
Lead sponsor: Hospices Civils de Lyon
Sponsor class: OTHER
First posted: 2020-07-09
Enrollment: 38
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: Patients GFAP-IgG positive in serum and/or CSF

Brief summary: Glial fibrillary acidic protein (GFAP)-Immunoglobulin G (IgG) have recently been described as a biomarker of a novel inflammatory central nervous system (CNS) disorder, termed autoimmune GFAP astrocytopathy. Thus far, four major clinical series have been published (two from Mayo Clinic USA, one from Italy and one from China). GFAP-IgG detected in serum or in cerebrospinal fluid, by tissue-based assay and confirmed by cell-based assay, are associated with encephalitis or meningoencephalitis of acute or subacute onset, less frequently with myelitis or optic disk edema. The characteristic MRI feature is brain linear perivascular radial gadolinium enhancement in the white matter perpendicular to the ventricle, consistent with the immunohistochemical staining pattern of GFAP in rodent brain sections. Approximately 20% of reported cases are associated with a neoplasm (ovarian teratoma mostly). Coexisting neural autoantibodies are described in some patients, N-methyl-D-aspartate (NMDA)-receptor (R)-IgG mostly, followed by aquaporin 4 (AQP4)-IgG. The disease is usually corticosteroid responsive although relapse can occur. In contrast, Chinese patients display poorer outcomes. Pathophysiology is not well understood but the intracellular antigen location makes GFAP-IgG unlikely pathogenic whereas animal models and neuropathologic data suggest a T-cell immune-mediated disorder.

The aim of the investigators is to report the first French cohort of patients GFAP-IgG positive. Investigators retrospectively assessed clinical, immunological and radiological features, treatment response and outcomes.


Eligibility criteria: Inclusion Criteria:

* Positive GFAP-Ab in serum and/or CSF tested by immunohistochemistry on mouse brain slices and confirmed by cell-based assay (CBA) of HEK293 cells expressing GFAP.
* Diagnosis and follow-up in France
* No age limit : from 0 to unlimited age

Exclusion Criteria:

* Patients GFAP-IgG negative in serum and CSF
* Absence of complete clinicopathological data
* Foreign follow-up

Primary outcomes:
measure: Report retrospectively clinical data of patients GFAP-IgG positive.
timeFrame: 13 months
Secondary outcomes:
measure: Describe GFAP-antibody test results.
timeFrame: 13 months
measure: demographic data of patients GFAP-IgG positive : age at onset
timeFrame: 13 months
Other outcomes:
measure: demographic data of patients GFAP-IgG positive : phenotype
timeFrame: 13 months
measure: demographic data of patients GFAP-IgG positive : sex
timeFrame: 13 months
measure: associated conditions of patients GFAP-IgG positive
timeFrame: 13 months
measure: Report cerebrospinal fluid white cell count
timeFrame: 13 months
measure: Report cerebrospinal fluid protein level
timeFrame: 13 months
measure: Report cerebrospinal fluid glucose level
timeFrame: 13 months
measure: Report number of oligoclonal bands in cerebrospinal fluid
timeFrame: 13 months
measure: Describe MRI features.
timeFrame: 13 months
measure: Report other paraclinic findings : electroencephalographic results.
timeFrame: 13 months
measure: Report other paraclinic findings : electromyographic results.
timeFrame: 13 months
measure: Report ophthalmic exam : visual acuity
timeFrame: 13 months
measure: Report ophthalmic exam : ocular fundus.
timeFrame: 13 months
measure: Report ophthalmic exam : visual field.
timeFrame: 13 months
measure: Report ophthalmic exam : optical coherence tomography.
timeFrame: 13 months
measure: Report histologic findings.
timeFrame: 13 months
measure: Report treatments and response.
timeFrame: 13 months
measure: Report outcome.
timeFrame: 13 months
Locations:
city: Bron
country: France
facility: Hospices Civils de Lyon
Study officials:
affiliation: Centre de référence des maladies inflammatoires rares du cerveau et de la moelle, Lyon, France
name: Romain MARIGNIER
role: STUDY_DIRECTOR
References: