Clinical trial · Observational
Analysis of the Role of AIRE in Autoimmune Neurological Diseases Associated With Autoantibodies
NCT06941584CI-TRIAL-00088842NAD-AIRErecruitingClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
Studying genetic predisposition in autoimmune neurological diseases could help improve diagnostic accuracy and offer new treatment possibilities
Conditions
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| AIRE Deficiency | — | UNRESOLVED | — |
Interventions
Interventions (3)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| AIRE single gene sequencing | Genetic | — | UNRESOLVED |
| Molecular typing of HLA class I and II alleles | Genetic | — | UNRESOLVED |
| Test for AQP4, AChR, LGI1, and CASPR2 autoantibodies using cell-based assay | Diagnostic Test | — | UNRESOLVED |
Design
Arms and outcomes
Arms (2)
- label
- First cohort - Patients with diagnosis of a neurological autoimmune disease
- description
- 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 only exclusion criterion was the presence of untreated thymoma or a history of thymoma.
- interventionNames
- Genetic: AIRE single gene sequencing
- Genetic: Molecular typing of HLA class I and II alleles
- label
- Second cohort - Patients with AIRE mutations
- description
- The second cohort included adults with dominant pathogenic AIRE mutations or homozygous AIRE mutations.
- interventionNames
- Diagnostic Test: Test for AQP4, AChR, LGI1, and CASPR2 autoantibodies using cell-based assay
- Genetic: Molecular typing of HLA class I and II alleles
Primary outcomes (1)
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
Show eligibility criteria text
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.
References
Publications (0)
Data not yet available
No reference posted for this study.