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

NCT06731790 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 35

Last updated 2026-02-05

No results posted yet for this study

Summary

The goal of this controlled, pathophysiological, exploratory interventional study is to compare the inflammatory phenotype of circulating immune cells, basal and following stimulation, from Acute Necrotizing Encephalopathy Type 1 (ANE1) patients with those from sex- and age-matched donors who do not carry the mutation.To date, no study has investigated the molecular mechanisms regulating the inflammatory response in ANE1 disease directly on patient samples.

The primary endpoint in individuals in the "mutated RANBP2" arm is an inflammatory phenotype (hyperinflammatory monocytes, secretion of pro-inflammatory cytokines, anti-glycoprotein autoantibodies), significantly exacerbated basal and/or post-stimulation production of pro-inflammatory cytokines compared with the control arm.

The secondary objective is to examine the allelic expression of mutant RANBP2 and characterize genetic variants by whole-exome sequencing, in order to associate them with RANBP2 protein localization and ANE crisis severity

The researchers will compare the group of ANE1 patients with age- and sex-matched control groups, divided into two subgroups: unrelated controls and controls with familial ties. The aim is to study the different types of inflammatory responses and correlate them with the localization of the RANBP2 protein and the severity of ANE episodes.

Participants will participate in a single visit during which demographic data, clinical history and a blood test will be collected with one (unrelated control) or two blood tubes (ANE1 and related control).

Conditions

  • Rare Genetic Disease
  • Acute Necrotizing Encephalopathy

Interventions

OTHER

Blood sampling for inflammatory phenotype analysis

Blood sampling for basal and post-stimulation inflammatory phenotype analysis

GENETIC

Blood sampling for genetic analysis

Collection of a blood tube for whole exome sequencing, , long-read sequencing of the RANBP2 gene and analysis of the presence of the mutation by RTqPCR.

Sponsors & Collaborators

  • Institut de Recherche en Infectiologie de Montpellier (CNRS)

    collaborator UNKNOWN

  • A*STAR Infectious Diseases Labs

    collaborator INDUSTRY

  • University Hospital, Montpellier

    lead OTHER

Principal Investigators

  • Pierre MEYER, MD · Montpellier University Hospital

Study Design

Allocation
NON_RANDOMIZED
Purpose
BASIC_SCIENCE
Masking
NONE
Model
PARALLEL

Eligibility

Min Age
1 Year
Max Age
90 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2025-04-24
Primary Completion
2025-09-01
Completion
2025-09-01

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06731790 on ClinicalTrials.gov