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Analysis of the Role of AIRE in Autoimmune Neurological Diseases Associated With Autoantibodies
Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Summary
Studying genetic predisposition in autoimmune neurological diseases could help improve diagnostic accuracy and offer new treatment possibilities
Key Details
Gender
All
Age Range
18 Years - Any
Study Type
OBSERVATIONAL
Enrollment
40
Start Date
2024-11-06
Completion Date
2027-01-06
Last Updated
2025-04-24
Healthy Volunteers
Not specified
Conditions
Interventions
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)
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)
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
Locations (1)
Fondazione Policlinico Universitario Agostino Gemelli, IRCSS Roma
Roma, Italy