HLA Analysis in Autoimmune Encephalitis and Related Disorders

NCT04106596 | Unknown

• 1 other identifier: ICARE
• Study Type: observational
• Target: 160
• Locations: 1 country
• Sites: 1

Brief Summary

Autoimmune encephalitis (AE) are characterized by subacute onset of memory deficits, altered mental status or psychiatric symptoms, frequently associated with seizures, inflammatory cerebrospinal fluid and in cases with prominent limbic involvement, typical magnetic resonance imaging. Several autoantibodies (Ab) may be detected in AE, although its detection is not mandatory to establish a diagnosis. These Ab mainly recognize different synaptic and cell-surface proteins in the central nervous system, and are thought to be pathogenic as they alter the normal location or function of its antigens. The primary trigger of the immune response is unknown for most of AE. In addition to acquired susceptibility, genetic predisposition may also be important in the pathogenesis of AE. Human leukocyte antigen (HLA) is the genetic factor most frequently associated with autoimmune diseases, due to its genetic complexity and key role in the adaptive immune response. The aim of the study is to describe HLA profile in three groups of autoimmune encephalitis and related disorders: anti-LGI1, anti-CASPR2 and anti-GAD neurological diseases.

Conditions

Autoimmune Encephalitis; Imbic Encephalitis; Autoimmune Cerebellar Ataxia; Stiff-person Syndrome

Outcome Measures

Primary Outcomes (2)

• HLA in autoimmune encephalitis and related disorders

  Description of HLA alleles and haplotypes carrier frequencies in autoimmune encephalitis and related disorders

  12 Months

• Clinical relevance of HLA in autoimmune encephalitis and related disorders

  Description of clinical differences among patients regarding their HLA status

  12 Months

Study Arms (3)

Patients with antibodies against LGI1

This is a non-interventional study involving biological samples (DNA). Samples are already stored in biobank repositories and collected as part of "good clinical practice" in the diagnostic process of patients with suspected autoimmune encephalitis, meaning that the standard diagnostic and therapeutic approaches will not be altered in the selected study population. Patients have already gave explicit written consent for biological specimens sampling and storage at the "Centre de Ressources Biologiques des Hospices Civils de Lyon" (CRB-HCL)/NeuroBioTec (including tissue, cells or biological fluids) and genetic analysis for research purposes (e.g. involving genes related to the disease for which the patient was followed). Additionally, patients will be informed about the present study.

Patients with antibodies against CASPR2

This is a non-interventional study involving biological samples (DNA). Samples are already stored in biobank repositories and collected as part of "good clinical practice" in the diagnostic process of patients with suspected autoimmune encephalitis, meaning that the standard diagnostic and therapeutic approaches will not be altered in the selected study population. Patients have already gave explicit written consent for biological specimens sampling and storage at the "Centre de Ressources Biologiques des Hospices Civils de Lyon" (CRB-HCL)/NeuroBioTec (including tissue, cells or biological fluids) and genetic analysis for research purposes (e.g. involving genes related to the disease for which the patient was followed). Additionally, patients will be informed about the present study.

Patients with antibodies against GAD

This is a non-interventional study involving biological samples (DNA). Samples are already stored in biobank repositories and collected as part of "good clinical practice" in the diagnostic process of patients with suspected autoimmune encephalitis, meaning that the standard diagnostic and therapeutic approaches will not be altered in the selected study population. Patients have already gave explicit written consent for biological specimens sampling and storage at the "Centre de Ressources Biologiques des Hospices Civils de Lyon" (CRB-HCL)/NeuroBioTec (including tissue, cells or biological fluids) and genetic analysis for research purposes (e.g. involving genes related to the disease for which the patient was followed). Additionally, patients will be informed about the present study.

Eligibility Criteria

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

Study Population

Patients with autoimmune encephalitis or related disorders whose samples were sent for analysis at Centre de Référence des syndromes neurologiques paranéoplasiques et encéphalites auto-immunes, Lyon, for anti-neural antibody study and then stored at the biobank Neurobiotec

You may qualify if:

• Presence of anti-LGI1, anti-CASPR2 or anti-GAD antibodies in serum or cerebrospinal fluid;
• Clinical picture compatible with the detected antibody (limbic encephalitis in anti-LGI1; limbic encephalitis, neuromyotonia or Morvan's syndrome in anti-CASPR2; limbic encephalitis, cerebellar ataxia or stiff-person syndrome in anti-GAD

You may not qualify if:

• \- Absence of complete clinicobiological data.

Sponsors & Collaborators

• Hospices Civils de Lyon: lead

Study Sites (1)

Centre de référence des syndromes neurologiques paranéoplasiques et encéphalites auto-immunes

Lyon, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

blood collected at diagnosis time

MeSH Terms

Conditions

Autoimmune Diseases of the Nervous System; Stiff-Person Syndrome

Condition Hierarchy (Ancestors)

Nervous System Diseases; Autoimmune Diseases; Immune System Diseases; Spinal Cord Diseases; Central Nervous System Diseases; Neuromuscular Diseases

Study Officials

• Jerome HONNORAT, PhD

  Centre de référence des syndromes neurologiques paranéoplasiques et encéphalites auto-immunes

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Jerome HONNORAT, PhD

CONTACT

4 72 35 78 08; jerome.honnorat@chu-lyon.fr

Géraldine PICARD

CONTACT

4 72 35 58 42; geraldine.picard@chu-lyon.fr

Study Design

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

Study Record Dates

• First Submitted: September 25, 2019
• First Posted: September 27, 2019
• Study Start: October 1, 2019
• Primary Completion: February 1, 2020
• Study Completion: October 1, 2020
• Last Updated: September 27, 2019

Record last verified: 2019-09

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)