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

Recruitingn/aAges 18 Years - anyAllFondazione Policlinico Universitario Agostino Gemโ€ฆ
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In plain words

What the trial is, and whether it could suit you

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

Sign in to get the eligibility rules as simple questions to take to your doctor.

๐Ÿ“‹ Eligibility rules (as published)
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.
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What it tests

  • Test for AQP4, AChR, LGI1, and CASPR2 autoantibodies using cell-based assay
  • AIRE single gene sequencing
  • Molecular typing of HLA class I and II alleles
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Where

1 site
Fondazione Policlinico Universitario Agostino Gemelli, IRCSS Roma
Roma, Italy
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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