Analysis of the Role of AIRE in Autoimmune Neurological Diseases Associated With Autoantibodies (NCT06941584) | Clinical Trial Compass
RecruitingNot Applicable
Analysis of the Role of AIRE in Autoimmune Neurological Diseases Associated With Autoantibodies
Italy40 participantsStarted 2024-11-06
Plain-language summary
Studying genetic predisposition in autoimmune neurological diseases could help improve diagnostic accuracy and offer new treatment possibilities
Who can participate
Age range18 Years
SexALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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.
What they're measuring
1
The role of AIRE in neurological autoimmune diseases