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

RecruitingOBSERVATIONAL
Enrollment

40

Participants

Timeline

Start Date

November 6, 2024

Primary Completion Date

January 6, 2027

Study Completion Date

January 6, 2027

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

Trial Locations (1)

00136

RECRUITING

Fondazione Policlinico Universitario Agostino Gemelli, IRCSS Roma, Roma

All Listed Sponsors
collaborator

University of Bergen

OTHER

lead

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

OTHER