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

Plain-language summary

This study examines the role of the AIRE gene in autoimmune neurological diseases associated with autoantibodies. It enrolls patients who have AQP4, AChR, LGI1, or CASPR2 autoantibodies together with additional autoimmune conditions, as well as adults carrying AIRE gene mutations. This non-phase study is currently recruiting.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Recruiting

Sponsor

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Intervention

Test for AQP4, AChR, LGI1, and CASPR2 autoantibodies using cell-based assay, AIRE single gene sequencing, Molecular typing of HLA class I and II alleles

Start date

11/6/2024

Estimated completion

1/6/2027

Countries

Italy

Related genes

Locations

• Roma, Italy

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

For the first cohort, the inclusion criteria were:

* Patients diagnosed with NMOSD associated with AQP4 autoantibodies who meet the 2015 diagnostic criteria and have at least one of the listed autoimmune comorbidities.
* Patients diagnosed with myasthenia gravis associated with AChR autoantibodies who also have another autoimmune comorbidity from the list.
* Patients diagnosed with autoimmune encephalitis who are positive for LGI1 and CASPR2 autoantibodies and have at least one additional autoimmune comorbidity.

The second cohort included adults with dominant pathogenic AIRE mutations or homozygous AIRE mutations.

Exclusion Criteria:

The presence of untreated thymoma or a history of thymoma.