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Host-microbiota Interactions in Auto-inflammatory Diseases (HO-MICRO-MAI)

17 juli 2026 uppdaterad av: Assistance Publique - Hôpitaux de Paris

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.

Studieöversikt

Status

Rekrytering

Betingelser

Autoinflammatoriska sjukdomar

Detaljerad beskrivning

Patients will receive oral and written information about the research during a routine consultation.

A 10mL urine tube will be collected for research. A stool collection kit including a self-questionnaire to be filled out on the day of the stool collection will be given to all included patients to be collected on site or at home within three months after inclusion and to be returned to the laboratory by mail using a pre-stamped envelope provided at the time of inclusion and a self-questionnaire to be filled out on the day of the stool collection Blood and urine samples will be brought by an accredited carrier to the laboratory "Microbiota, Intestine and Inflammation"; UMRS-938 Sorbonne University, Hôpital Saint-Antoine where they will be analyzed. Stool samples will be sent by mail for stool samples.

If blood sampling is planned as part of routine care, 3 additional tubes (15mL, one dry tube of 5mL, 2 EDTA tubes of 5mL each) of peripheral blood will be collected.

Studietyp

Observationell

Inskrivning (Beräknad)

300

Kontakter och platser

Det här avsnittet innehåller kontaktuppgifter för dem som genomför studien och information om var denna studie genomförs.

Studiekontakt

Namn: Sophie GEOGIN-LAVIALLE, MD PhD
Telefonnummer: +33 01 56 01 70 82
E-post: sophie.georgin-lavialle@aphp.fr

Studera Kontakt Backup

Namn: Inès ELHANI, MD
Telefonnummer: +33 01 56 01 70 82
E-post: ines.elhani@aphp.fr

Studieorter

Frankrike
- - Paris, Frankrike, 75020
    - Rekrytering
    - Internal medicine, Tenon Hospital (APHP)
    - Kontakt:
      
      Inès ELHANI, MD
      
      Telefonnummer: +33 01 56 01 70 82
      
      E-post: ines.elhani@aphp.fr
    - Kontakt:
      
      Sophie GEORGIN-LAVIALLE, MD, PhD
      
      Telefonnummer: +33 01 56 01 70 82
      
      E-post: sophie.georgin-lavialle@aphp.fr

Deltagandekriterier

Forskare letar efter personer som passar en viss beskrivning, så kallade behörighetskriterier. Några exempel på dessa kriterier är en persons allmänna hälsotillstånd eller tidigare behandlingar.

Urvalskriterier

Åldrar som är berättigade till studier

Barn
Vuxen
Äldre vuxen

Tar emot friska volontärer

Nej

Testmetod

Icke-sannolikhetsprov

Studera befolkning

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.

Beskrivning

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

Studieplan

Det här avsnittet ger detaljer om studieplanen, inklusive hur studien är utformad och vad studien mäter.

Hur är studien utformad?

Designdetaljer

Antal grupper/kohorter

Kohorter och interventioner

Grupp / Kohort
Patients with autoinflammatory diseases

Vad mäter studien?

Primära resultatmått

Resultatmått	Åtgärdsbeskrivning	Tidsram
Stool and blood Gut-derived metabolites in patients with AID Tidsram: 3 months	Quantification of gut-derived metabolites in stools using mass spectrometry	3 months
Stool and blood Gut-derived metabolites in patients with AID Tidsram: 3 months	Qualitative evaluation of gut-derived metabolites in stools	3 months

Sekundära resultatmått

Resultatmått	Åtgärdsbeskrivning	Tidsram
Role of AhR on activation of inflammatory pathways Tidsram: during the inclusion visit, baseline, day 1	Quantification of pro-inflammatory cytokines in presence of AhR agonists on patients' monocytes	during the inclusion visit, baseline, day 1
Microbiota in AID patients Tidsram: 3 months	Dysbiosis measured by alpha and betadiversity	3 months
Effect of gut-derived metabolites on inflammatory pathways though cytokine production Tidsram: 3 months	Increase or decrease in proinflammatory cytokines secreted	3 months
Association of microbiota profile with biological control of the disease Tidsram: 3 months	Correlation between microbiota profiles and inflammation biomarkers (C-reactive protein, Serum A Amyloid, proteinuria)	3 months
Association of microbiota profile and severity of the disease Tidsram: 3 months	Correlation between microbiota profiles and complications (AA Amyloidosis, Cirrhosis)	3 months

Samarbetspartners och utredare

Det är här du hittar personer och organisationer som är involverade i denna studie.

Sponsor

Assistance Publique - Hôpitaux de Paris

Utredare

Huvudutredare: Sophie GEORGIN-LAVIALLE, APHP

Studieavstämningsdatum

Dessa datum spårar framstegen för inlämningar av studieposter och sammanfattande resultat till ClinicalTrials.gov. Studieposter och rapporterade resultat granskas av National Library of Medicine (NLM) för att säkerställa att de uppfyller specifika kvalitetskontrollstandarder innan de publiceras på den offentliga webbplatsen.

Studera stora datum

Studiestart (Faktisk)

9 mars 2026

Primärt slutförande (Beräknad)

1 september 2026

Avslutad studie (Beräknad)

1 september 2029

Studieregistreringsdatum

Först inskickad

20 april 2026

Först inskickad som uppfyllde QC-kriterierna

17 juli 2026

Första postat (Faktisk)

22 juli 2026

Uppdateringar av studier

Senaste uppdatering publicerad (Faktisk)