Studying the AIRE gene in autoimmune nerve and brain diseases

AI summary

From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.

The trial is looking for adults with an autoimmune nerve or muscle disease linked to autoantibodies, plus adults with an AIRE gene change. It studies the role of the AIRE gene.

Age

18 years or older

Sex

All sexes can join

Disease stage

Cohort 1: NMOSD with AQP4 autoantibodies, myasthenia gravis with AChR autoantibodies, or autoimmune encephalitis with LGI1 and CASPR2 autoantibodies, each with at least one other autoimmune condition. Cohort 2: adults with AIRE gene changes.

Biomarker or test result

Cohort 1: positive for AQP4, AChR, or LGI1 and CASPR2 autoantibodies, depending on the disease. Cohort 2: dominant pathogenic AIRE mutation or homozygous AIRE mutation.

Main reasons for not taking part

• Untreated thymoma
• History of thymoma

The registry criteria, word for word

What the trial wants to find out

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

The 2 groups in the trial

• First cohort - Patients with diagnosis of a neurological autoimmune disease

  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.

  Treatment: AIRE single gene sequencing and Molecular typing of HLA class I and II alleles

• Second cohort - Patients with AIRE mutations

  The second cohort included adults with dominant pathogenic AIRE mutations or homozygous AIRE mutations.

  Treatment: Test for AQP4, AChR, LGI1, and CASPR2 autoantibodies using cell-based assay and Molecular typing of HLA class I and II alleles