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Recruiting Observational

Host-microbiota Interactions in Auto-inflammatory Diseases

NCT07718555 · tracked via the Priya Life Science France tracker
Phase
Observational
Started
2026-03-09
Last updated
2026-07-22

Condition(s) studied

Autoinflammatory Diseases

Study summary

Autoinflammatory diseases (AID) are genetic diseases responsible for excessive activation of innate immunity leading to blood inflammation and systemic symptoms. Most patients display digestive involvements that may resemble inflammatory bowel disease. Several studies have found dysbiosis in some AID. Gut microbiota can communicate with the host via gut-derived metabolites (Fatty acids, tryptophan, bile acids) that may have either pro-inflammatory or anti-inflammatory effects. Some metabolites can also activate the Aryl hydrocarbon receptor (AhR) pathway, which enhances gut barrier. Gut barrier dysfunction has already been associated with AID. Therfore, dysbiosis could promote digestive and inflammatory involvements in genetically predisposed patients via perturbations of gut-derived metabolites.

Eligibility

Sex
ALL
Min age
12 Years
Max age
—
Healthy volunteers
No
Inclusion Criteria: * Patients with autoinflammatory diseases aged \>12 years and followed in the CEREMAIA internal medicine department present for consultation or day hospital for a routine care visit. * FMF defined by the Eurofever/PRINTO criteria * or CAPS définie by the Eurofever/PRINTO criteria * or MKD defined by the Eurofever/PRINTO criteria * or - DADA2 defined by the presence of two mutations in the ADA2 gene with pathogenicity of at least ≥ 3 * or - HA20 defined by the presence of one TNFAIP3 mutation with pathogenicity of at least ≥ 3 * or - JAAD defined by the presence of one JAK1 mutation with pathogenicity of at least ≥ 3 * or Juvenile polyarthritis defined by the presence of one LACC1 mutation with pathogenicity of at least ≥ 3 * or - Unclassified AMI defined by: * Fever +/- systemic symptoms Recurrent * Biological inflammation (CRP\>20mg/l) in crisis or permanent * Absence of pathogenic mutation highlighted by current next-generation sequencing techniques in known autoinflammatory disease genes * Collection of non-opposition to participation in research and specific consent for the biological collection of the patient or their legal representative in the case of a minor patient * Lack of legal protection * Patients benefiting from a social security scheme Exclusion Criteria: * Antibiotic therapy within 3 months prior to inclusion. If antibiotic therapy was initiated between inclusion and stool collection (data collected on the self-administered questionnaire accompanying the stool collection), the analysis data performed prior to antibiotic therapy will be retained, and the stool will not be analyzed. * Current infection on the day of inclusion * No social security * Refusal to participate

Primary outcome measure(s)

  • Stool and blood Gut-derived metabolites in patients with AID — 3 months
    Quantification of gut-derived metabolites in stools using mass spectrometry
  • Stool and blood Gut-derived metabolites in patients with AID — 3 months
    Qualitative evaluation of gut-derived metabolites in stools

Trial sites (1)

FacilityCityRegionStatus
Internal medicine, Tenon Hospital (APHP) Paris France Recruiting

Other trials for the same condition

Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT07718555 on ClinicalTrials.gov ↗ ← All trials in France