GFAP Auto-immunity : a French Cohort Study

NCT04463550 | Unknown

• 1 other identifier: GFAP
• Study Type: observational
• Target: 38
• Locations: 1 country
• Sites: 1

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.

Conditions

Autoimmune GFAP Astrocytopathy

Keywords

Acidic Protein IgG; astrocytopathy; meningoencephalomyelitis; perivascular-radial parenchymal enhancement; autoimmune; paraneoplasic

Outcome Measures

Primary Outcomes (1)

• Report retrospectively clinical data of patients GFAP-IgG positive.

  Describe prodromes (yes or no), neurologic signs and clinical course (acute/subacute - yes or no - or progressive onset - yes or no), if admitted in intensive care units (yes or no), retrospectively provided by the treating physicians using a structured questionnaire.or progressive onset), if admitted in intensive care units, neoplastic and dysimmune associated diseases and T cell dysregulation condition .

  13 months

Secondary Outcomes (2)

• Describe GFAP-antibody test results.

  13 months

• demographic data of patients GFAP-IgG positive : age at onset

  13 months

Other Outcomes (17)

• demographic data of patients GFAP-IgG positive : phenotype

  13 months

• demographic data of patients GFAP-IgG positive : sex

  13 months

• associated conditions of patients GFAP-IgG positive

  13 months

Study Arms (1)

Patients GFAP-IgG positive in serum and/or CSF

Patients developing clinical autoimmune encephalitis or meningoencephalomyelitis with anti-GFAP antibodies, managed by the National Reference Center for Paraneoplastic Syndromes and Autoimmune Encephalitis or the National Reference Center for Centre de référence for Neuro-inflammatory diseases of the brain and the spinal cord at the Neurological Hospital of Bron.

Other: Description and analysis

Interventions

Description and analysis OTHER

Retrospective, non-interventional study, using clinical, biological, radiological and therapeutic data collected during the initial diagnosis and follow-up.

Patients GFAP-IgG positive in serum and/or CSF

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients GFAP-IgG positive in serum and/or CSF

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Hospices Civils de Lyon: lead

Study Sites (1)

Hospices Civils de Lyon

Bron, 69250, France

RECRUITING

Study Officials

• Romain MARIGNIER

  Centre de référence des maladies inflammatoires rares du cerveau et de la moelle, Lyon, France

  STUDY DIRECTOR

Central Study Contacts

Romain MARIGNIER, Dr

CONTACT

04-72-35-75-22; romain.marignier@chu-lyon.fr

Géraldine PICARD

CONTACT

04 72 35 58 42; geraldine.picard@chu-lyon.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 17, 2020
• First Posted: July 9, 2020
• Study Start: September 1, 2019
• Primary Completion: January 1, 2020
• Study Completion: November 1, 2020
• Last Updated: July 9, 2020

Record last verified: 2020-06

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)