Exploring the Role of AIRE in Autoimmune Neurological Diseases
Official title: Analysis of the Role of AIRE in Autoimmune Neurological Diseases Associated With Autoantibodies
Run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS · NCT06941584 · Data updated 2026-11-12
This study is trying to see how the AIRE gene affects people with autoimmune neurological diseases like NMOSD, myasthenia gravis, and autoimmune encephalitis to improve diagnosis and treatment options.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 18 Years and up |
| Sex | All |
| Enrollment | 40 (estimated) |
| Sponsor | Fondazione Policlinico Universitario Agostino Gemelli IRCCS Academic / other |
| Locations | 1 site (Roma) |
| Status | Recruiting |
| Started | November 6, 2024 |
| Main results expected | January 6, 2027 |
| Study ends | January 6, 2027 |
| Registry record updated | April 24, 2025 |
| Trial ID | NCT06941584 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include adults diagnosed with NMOSD, myasthenia gravis, or autoimmune encephalitis who also have specific autoantibodies and additional autoimmune comorbidities.
✕Probably not a fit
Patients with untreated thymoma or a history of thymoma may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study investigates the genetic predisposition linked to autoimmune neurological diseases, focusing on the AIRE gene's role in conditions such as neuromyelitis optica spectrum disorder (NMOSD), myasthenia gravis (MG), and autoimmune encephalitis. The study aims to improve diagnostic accuracy and explore new treatment possibilities by analyzing the presence of specific autoantibodies and genetic mutations. Participants will undergo testing for various autoantibodies and AIRE gene sequencing to better understand the mechanisms behind these diseases.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnostic methods and targeted therapies for patients with autoimmune neurological diseases.
How similar studies have gone: Other studies have shown promising results in understanding the role of genetic factors in autoimmune diseases, suggesting that this approach may yield valuable insights.
Who can join: the full rules
Show full inclusion / exclusion criteria
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.
Where it's running
-
Fondazione Policlinico Universitario Agostino Gemelli, IRCSS Roma
Roma, Italy Recruiting
Study contacts
- Principal investigator: Raffaele Iorio, MD — Dipartimento di Neurologia - Policlinico Fondazione Agostino Gemelli
- Study coordinator: Raffaele Iorio, MD
- Email: raffaele.iorio@policlinicogemelli.it
- Phone: 3347185128
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.