MedTrace Logo

Analysis of the Role of AIRE in Autoimmune Neurological Diseases Associated With Autoantibodies

NCT06941584 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 40

Last updated 2025-04-24

No results posted yet for this study

Summary

Studying genetic predisposition in autoimmune neurological diseases could help improve diagnostic accuracy and offer new treatment possibilities

Conditions

  • AIRE Deficiency

Interventions

DIAGNOSTIC_TEST

Test for AQP4, AChR, LGI1, and CASPR2 autoantibodies using cell-based assay

To evaluate the prevalence of specific autoantibodies (AQP4, AChR, LGI1, and CASPR2) in the population of patients carrying AIRE mutations (second cohort)

GENETIC

AIRE single gene sequencing

To assess the prevalence of AIRE gene mutations in patients with NMOSD associated with AQP4 autoantibodies, myasthenia gravis (MG) associated with AChR autoantibodies, acquired neuromyotonia, and autoimmune encephalitis associated with CASPR2 and LGI1 autoantibodies (first cohort)

GENETIC

Molecular typing of HLA class I and II alleles

To assess the HLA haplotypes of class I and II by comparing patients with and without AIRE mutations, as well as those with and without autoimmune neurological diseases

Sponsors & Collaborators

  • University of Bergen

    collaborator OTHER

  • Fondazione Policlinico Universitario Agostino Gemelli IRCCS

    lead OTHER

Principal Investigators

  • Raffaele Iorio, MD · Dipartimento di Neurologia - Policlinico Fondazione Agostino Gemelli

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-11-06
Primary Completion
2027-01-06
Completion
2027-01-06

Countries

  • Italy

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06941584 on ClinicalTrials.gov