Status:
RECRUITING
Analysis of the Role of AIRE in Autoimmune Neurological Diseases Associated With Autoantibodies
Lead Sponsor:
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Collaborating Sponsors:
University of Bergen
Conditions:
AIRE Deficiency
Eligibility:
All Genders
18+ years
Brief Summary
Studying genetic predisposition in autoimmune neurological diseases could help improve diagnostic accuracy and offer new treatment possibilities
Detailed Description
Autoimmune diseases involving the nervous system include conditions affecting both the central nervous system (CNS)-such as neuromyelitis optica spectrum disorder (NMOSD) and autoimmune encephalitis-a...
Eligibility Criteria
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.
Key Trial Info
Start Date :
November 6 2024
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
January 6 2027
Estimated Enrollment :
40 Patients enrolled
Trial Details
Trial ID
NCT06941584
Start Date
November 6 2024
End Date
January 6 2027
Last Update
April 24 2025
Active Locations (1)
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1
Fondazione Policlinico Universitario Agostino Gemelli, IRCSS Roma
Roma, Italy, 00136