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Recruiting NCT06941584

NCT06941584 Analysis of the Role of AIRE in Autoimmune Neurological Diseases Associated With Autoantibodies

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Clinical Trial Summary
NCT ID NCT06941584
Status Recruiting
Phase —
Sponsor Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Condition AIRE Deficiency
Study Type OBSERVATIONAL
Enrollment 40 participants
Start Date 2024-11-06
Primary Completion 2027-01-06

Eligibility & Interventions

Sex All sexes
Min Age 18 Years
Max Age N/A
Study Type OBSERVATIONAL
Interventions
Test for AQP4, AChR, LGI1, and CASPR2 autoantibodies using cell-based assayAIRE single gene sequencingMolecular typing of HLA class I and II alleles

Eligibility Fast-Check

Enter your details for a quick preliminary check. This does not replace medical advice.

What to Expect as a Participant

This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.

This trial targets 40 participants in total. It began in 2024-11-06 with a primary completion date of 2027-01-06.

⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.

Brief Summary

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

Eligibility 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.

Contact & Investigator

Central Contact

Raffaele Iorio, MD

✉ raffaele.iorio@policlinicogemelli.it

📞 3347185128

Principal Investigator

Raffaele Iorio, MD

PRINCIPAL INVESTIGATOR

Dipartimento di Neurologia - Policlinico Fondazione Agostino Gemelli

Frequently Asked Questions

Who can join the NCT06941584 clinical trial?

This trial is open to participants of all sexes, aged 18 Years or older, studying AIRE Deficiency. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.

Is NCT06941584 currently recruiting?

Yes, NCT06941584 is actively recruiting participants. Contact the research team at raffaele.iorio@policlinicogemelli.it for enrollment information.

Where is the NCT06941584 trial being conducted?

This trial is being conducted at Roma, Italy.

Who is sponsoring the NCT06941584 clinical trial?

NCT06941584 is sponsored by Fondazione Policlinico Universitario Agostino Gemelli IRCCS. The principal investigator is Raffaele Iorio, MD at Dipartimento di Neurologia - Policlinico Fondazione Agostino Gemelli. The trial plans to enroll 40 participants.

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