Test for AQP4, AChR, LGI1, and CASPR2 autoantibodies using cell-based assayAIRE single gene sequencingMolecular typing of HLA class I and II alleles
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)
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)
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
Study summary
Studying genetic predisposition in autoimmune neurological diseases could help improve diagnostic accuracy and offer new treatment possibilities
Eligibility
Sex
ALL
Min age
18 Years
Max age
—
Healthy volunteers
No
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.
Primary outcome measure(s)
The role of AIRE in neurological autoimmune diseases — 36 months 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
Trial sites (1)
Facility
City
Region
Status
Fondazione Policlinico Universitario Agostino Gemelli, IRCSS Roma
Roma
Italy
Recruiting
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This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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