Host-microbiota Interactions in Auto-inflammatory Diseases

NCT07718555 | Recruiting

• 2 other identifiers: APHP230035IDRCB 2025-A01478-41
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Autoinflammatory Diseases

Keywords

Autoinflammatory diseases; Microbiota; Gut

Outcome Measures

Primary Outcomes (2)

• Stool and blood Gut-derived metabolites in patients with AID

  Quantification of gut-derived metabolites in stools using mass spectrometry

  3 months

• Stool and blood Gut-derived metabolites in patients with AID

  Qualitative evaluation of gut-derived metabolites in stools

  3 months

Secondary Outcomes (5)

• Role of AhR on activation of inflammatory pathways

  during the inclusion visit, baseline, day 1

• Microbiota in AID patients

  3 months

• Effect of gut-derived metabolites on inflammatory pathways though cytokine production

  3 months

• Association of microbiota profile with biological control of the disease

  3 months

• Association of microbiota profile and severity of the disease

  3 months

Study Arms (1)

Patients with autoinflammatory diseases

Eligibility Criteria

• Age: 12 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with auto-inflammatory diseases (Familial Mediterranean Fever, Mevalonate kinase deficiency, Cryopyrin-associated periodic fever, A20 haploinsufficiency, ADA2 deficiency, LACC1-associated juvenile arthritis, JAK1-associated autoinflammatory disease, or Syndrome of Undifferentiated Recurrent Fever ) followed up in the French reference center of autoinflammatory diseases.

You may qualify if:

• 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

You may not qualify if:

• No social security
• Refusal to participate

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Internal medicine, Tenon Hospital (APHP)

Paris, 75020, France

RECRUITING

Study Officials

• Sophie GEORGIN-LAVIALLE

  APHP

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Sophie GEOGIN-LAVIALLE, MD PhD

CONTACT

01 56 01 70 82; sophie.georgin-lavialle@aphp.fr

Inès ELHANI, MD

CONTACT

01 56 01 70 82; ines.elhani@aphp.fr

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 20, 2026
• First Posted: July 22, 2026
• Study Start: March 9, 2026
• Primary Completion (Estimated): September 1, 2026
• Study Completion (Estimated): September 1, 2029
• Last Updated: July 22, 2026

Record last verified: 2026-07

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)