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

RECRUITINGSponsored by Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Actively Recruiting
SponsorFondazione Policlinico Universitario Agostino Gemelli IRCCS
Started2024-11-06
Est. completion2027-01-06
Eligibility
Age18 Years+
View on ClinicalTrials.gov →

NCT06941584

Summary

Studying genetic predisposition in autoimmune neurological diseases could help improve diagnostic accuracy and offer new treatment possibilities

Eligibility

Age: 18 Years+
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.

Conditions2

AIRE DeficiencyCancer

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