HLA Analysis in Autoimmune Encephalitis and Related Disorders

• Conditions: Autoimmune Encephalitis; Imbic Encephalitis; Autoimmune Cerebellar Ataxia; Stiff-person Syndrome

• Registration Number: NCT04106596
• Lead Sponsor: Hospices Civils de Lyon

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.

Detailed Description

Not available

Study Timeline

• Status Verified: 2019-09
• Study First Submitted: 2019-09-25
• Study First Submitted QC: 2019-09-25
• Last Update Submitted: 2019-09-25
• Study First Posted: 2019-09-27
• Last Update Posted: 2019-09-27
• Study Start: 2019-10-01
• Primary Completion: 2020-02-01
• Study Completion: 2020-10-01

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 160

Inclusion Criteria

1. Presence of anti-LGI1, anti-CASPR2 or anti-GAD antibodies in serum or cerebrospinal fluid;
2. 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

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Exclusion Criteria

• Absence of complete clinicobiological data.

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
HLA in autoimmune encephalitis and related disorders	12 Months	Description of HLA alleles and haplotypes carrier frequencies in autoimmune encephalitis and related disorders
Clinical relevance of HLA in autoimmune encephalitis and related disorders	12 Months	Description of clinical differences among patients regarding their HLA status

Trial Locations

Locations (1)

Centre de référence des syndromes neurologiques paranéoplasiques et encéphalites auto-immunes; 🇫🇷 Lyon, France