Clinical Characterization and Outcome of Anti-IgLON5 Disease

NCT ID: NCT06131346

Last Updated: 2023-11-14

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 50 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2023-02-23
• Study Completion Date: 2023-12-31

Brief Summary

Anti-IgLON5 disease is a neurological disorder associated with antibodies to IgLON5, a neuronal cell adhesion protein of unknown function. Most patients develop a combination of significant sleep disturbances (non-rapid eye movement (NREM) and rapid eye movement parasomnias with obstructive sleep apnoea), bulbar dysfunction (dysarthria, dysphagia, vocal cord paralysis or episodes of respiratory failure) and gait instability. Early autopsy studies showed deposits of phosphorylated tau protein mainly in neurons of the brainstem tegmentum, suggesting a primary neurodegenerative disease. However, the results of subsequent studies have provided increasing support for an immune-mediated pathogenesis. First, there is a strong association with the human leukocyte antigen (HLA) haplotype DRB1*10:01-DQB1*05 : 01, which is present in ~60% of patients (compared to 2% in the normal population); secondly, recent autopsy studies have shown the absence of abnormal tau deposits; and thirdly, in live neurons in culture, IgLON5 antibodies cause irreversible loss of surface IgLON5 clusters and cytoskeletal changes such as dystrophic neurites and axonal bulges. Together, these studies suggest that antibody-mediated disruption of IgLON5 function leads to neurofilament and cytoskeletal alterations that can potentially result in tau accumulation.

Over the last two years, an increase in diagnoses of anti-IgLON5 disease has been observed in the French Reference centre of Autoimmune Encephalitis. This could be related to a better knowledge of the disease, or to other yet unknown factors. Clinical characterisation of these patients is essential to understand the underlying reasons for the increase in diagnoses and to improve knowledge of this disease. Furthermore, the response of these patients to immunosuppressive drugs and the long-term prognosis remain unknown.

Conditions

Anti-IgLON5 Disease

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: RETROSPECTIVE

Study Groups

Patients with anti-IgLON5 antibodies

Adults patients who tested positive for anti-IgLON5 antibodies in the French Reference centre of Autoimmune Encephalitis

Evaluation of clinical and paraclinical data.

Intervention Type: OTHER

Retrospective data collection from available medical files of patient.

Interventions

Evaluation of clinical and paraclinical data.

Retrospective data collection from available medical files of patient.

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• Patients > 18 ans
• Anti-IgLON5 antibody positivity

Exclusion Criteria

• Lack of clinical data

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Hospices Civils de Lyon

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Hospices Civils de Lyon

Bron, , France

Site Status: RECRUITING

Countries

France

Central Contacts

Jerome Honnorat, professor

Role: CONTACT

jerome.honnorat@chu-lyon.fr

33472357806

Marine Villard

Role: CONTACT

marine.villard@chu-lyon.fr

0427855460

Facility Contacts

Jérome Honnorat, professor

Role: primary

jerome.honnorat@chu-lyon.fr

+334 72 35 78 06

Other Identifiers

69HCL23_1173

Identifier Type: -

Identifier Source: org_study_id