Studying the AIRE gene in autoimmune nerve and brain diseases
Looks at AIRE gene variants and antibodies in adults with autoimmune neurological disease.
Plain-language title generated from the registry record
Registry title: Analysis of the Role of AIRE in Autoimmune Neurological Diseases Associated With Autoantibodies
Key facts
- Where
- Roma, ItalySee the site
Where in Italy
- Fondazione Policlinico Universitario Agostino Gemelli, IRCSS RomaRoma, ItalyTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
- Trial code
- NCT06941584
- Record updated
- 24 April 2025
- Original description
Studying genetic predisposition in autoimmune neurological diseases could help improve diagnostic accuracy and offer new treatment possibilitiesRead full original descriptionShow less
Analysis of the Role of AIRE in Autoimmune Neurological Diseases Associated With Autoantibodies
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.