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

Launched by FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS · Apr 16, 2025

Keywords

ClinConnect Summary

This clinical trial is investigating the role of a gene called AIRE in certain autoimmune neurological diseases. These diseases occur when the body's immune system mistakenly attacks its own nervous system. By understanding how AIRE is involved, researchers hope to improve the accuracy of diagnoses and explore new treatment options for patients. The trial is currently recruiting participants aged 65 to 74, regardless of gender.

To be eligible for the study, participants must have specific autoimmune conditions, such as neuromyelitis optica spectrum disorder (NMOSD), myasthenia gravis, or autoimmune encephalitis, along with other related autoimmune diseases. The trial aims to gather information from individuals with mutations in the AIRE gene. Those who join the study can expect to undergo evaluations to help researchers better understand these conditions and potentially lead to advancements in treatment. It’s important to note that individuals with untreated thymoma, a type of tumor, cannot participate in this trial.

Gender

ALL

Eligibility criteria

• 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.