Role of the Nuclear Pore Component RANBP2 in Inflammatory Responses to Viral Infections

Launched by UNIVERSITY HOSPITAL, MONTPELLIER · Dec 9, 2024

Keywords

ClinConnect Summary

This clinical trial is investigating how a specific genetic mutation (the T585M mutation in the RANBP2 gene) affects the immune system's response to viral infections in patients with a rare condition called Acute Necrotizing Encephalopathy Type 1 (ANE1). The researchers want to understand if patients with this mutation have an increased inflammatory response, which could make their condition worse. They will compare the immune responses of ANE1 patients to those of healthy individuals who are similar in age and gender. This will help uncover important details about how the mutation affects the body and the severity of ANE episodes.

To participate in this study, individuals aged between 1 and 90 years old who have the T585M RANBP2 mutation can join the "mutated RANBP2" group. There are also opportunities for healthy individuals to participate as controls. Participants will need to provide consent, and those under 18 will need consent from a guardian. During one visit, participants will provide some basic information and a blood sample for testing. Notably, the trial is not yet recruiting, so interested individuals will need to wait until it officially starts.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Obtaining written consent from adult participants
• • Obtaining written consent from legal guardians of minors with their assent
• • Subjects aged 1 to 90
• • Subject with a T585M mutation in RANBP2 for the RANBP2 mutation arm.
• • Subjects matched on age (+/- 10 years) and gender for the "control" arm.
• Exclusion Criteria:
• • Patient not affiliated to a social security scheme or not a beneficiary of such a scheme. (for example, a European Health Insurance Card (EHIC))
• • Absence of written informed consent
• • Person unable to give consent
• • legally protected adult (guardianship, curatorship)
• • Person deprived of liberty
• • Person participating in another research study with an exclusion period still in progress
• • Chronic or infectious disease affecting the immune system
• • Immunomodulating treatment (e.g. corticosteroids, immunoglobulins)