NCT06941584
Analysis of the Role of AIRE in Autoimmune Neurological Diseases Associated With Autoantibodies
Recruiting · Not specified · Fondazione Policlinico Universitario Agostino Gemelli IRCCS · registry updated 2025-04-24
Inclusion and exclusion lines below are quoted from ClinicalTrials.gov. No match score is shown, because a score needs a person's age, biomarkers, and treatment dates. Confirm the record with the study team.
Studying genetic predisposition in autoimmune neurological diseases could help improve diagnostic accuracy and offer new treatment possibilities
Inclusion
- 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
- The presence of untreated thymoma or a history of thymoma.