RECRUITINGOBSERVATIONAL
Analysis of the Role of AIRE in Autoimmune Neurological Diseases Associated With Autoantibodies
About This Trial
Studying genetic predisposition in autoimmune neurological diseases could help improve diagnostic accuracy and offer new treatment possibilities
Who May Be Eligible (Plain English)
Who May Qualify:
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.
Who Should NOT Join This Trial:
The presence of untreated thymoma or a history of thymoma.
Always talk to your doctor about whether this trial is right for you.
Original Eligibility Criteria
View original clinical language
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.
Treatments Being Tested
DIAGNOSTIC_TEST
Test for AQP4, AChR, LGI1, and CASPR2 autoantibodies using cell-based assay
To evaluate the prevalence of specific autoantibodies (AQP4, AChR, LGI1, and CASPR2) in the population of patients carrying AIRE mutations (second cohort)
GENETIC
AIRE single gene sequencing
To assess the prevalence of AIRE gene mutations in patients with NMOSD associated with AQP4 autoantibodies, myasthenia gravis (MG) associated with AChR autoantibodies, acquired neuromyotonia, and autoimmune encephalitis associated with CASPR2 and LGI1 autoantibodies (first cohort)
GENETIC
Molecular typing of HLA class I and II alleles
To assess the HLA haplotypes of class I and II by comparing patients with and without AIRE mutations, as well as those with and without autoimmune neurological diseases
Locations (1)
Fondazione Policlinico Universitario Agostino Gemelli, IRCSS Roma
Roma, Italy