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

17. juli 2026 oppdatert 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.

Studieoversikt

Status

Rekruttering

Forhold

Autoinflammatoriske sykdommer

Detaljert beskrivelse

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.

Studietype

Observasjonsmessig

Registrering (Antatt)

300

Kontakter og plasseringer

Denne delen inneholder kontaktinformasjon for de som utfører studien, og informasjon om hvor denne studien blir utført.

Studiekontakt

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

Studer Kontakt Backup

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

Studiesteder

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

Deltakelseskriterier

Forskere ser etter personer som passer til en bestemt beskrivelse, kalt kvalifikasjonskriterier. Noen eksempler på disse kriteriene er en persons generelle helsetilstand eller tidligere behandlinger.

Kvalifikasjonskriterier

Alder som er kvalifisert for studier

Barn
Voksen
Eldre voksen

Tar imot friske frivillige

Nei

Prøvetakingsmetode

Ikke-sannsynlighetsprøve

Studiepopulasjon

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.

Beskrivelse

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

Denne delen gir detaljer om studieplanen, inkludert hvordan studien er utformet og hva studien måler.

Hvordan er studiet utformet?

Designdetaljer

Antall grupper / kohorter

Kohorter og intervensjoner

Gruppe / Kohort
Patients with autoinflammatory diseases

Hva måler studien?

Primære resultatmål

Resultatmål	Tiltaksbeskrivelse	Tidsramme
Stool and blood Gut-derived metabolites in patients with AID Tidsramme: 3 months	Quantification of gut-derived metabolites in stools using mass spectrometry	3 months
Stool and blood Gut-derived metabolites in patients with AID Tidsramme: 3 months	Qualitative evaluation of gut-derived metabolites in stools	3 months

Sekundære resultatmål

Resultatmål	Tiltaksbeskrivelse	Tidsramme
Role of AhR on activation of inflammatory pathways Tidsramme: 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 Tidsramme: 3 months	Dysbiosis measured by alpha and betadiversity	3 months
Effect of gut-derived metabolites on inflammatory pathways though cytokine production Tidsramme: 3 months	Increase or decrease in proinflammatory cytokines secreted	3 months
Association of microbiota profile with biological control of the disease Tidsramme: 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 Tidsramme: 3 months	Correlation between microbiota profiles and complications (AA Amyloidosis, Cirrhosis)	3 months

Samarbeidspartnere og etterforskere

Det er her du vil finne personer og organisasjoner som er involvert i denne studien.

Sponsor

Assistance Publique - Hôpitaux de Paris

Etterforskere

Hovedetterforsker: Sophie GEORGIN-LAVIALLE, APHP

Studierekorddatoer

Disse datoene sporer fremdriften for innsending av studieposter og sammendragsresultater til ClinicalTrials.gov. Studieposter og rapporterte resultater gjennomgås av National Library of Medicine (NLM) for å sikre at de oppfyller spesifikke kvalitetskontrollstandarder før de legges ut på det offentlige nettstedet.

Studer hoveddatoer

Studiestart (Faktiske)

9. mars 2026

Primær fullføring (Antatt)

1. september 2026

Studiet fullført (Antatt)

1. september 2029

Datoer for studieregistrering

Først innsendt

20. april 2026

Først innsendt som oppfylte QC-kriteriene

17. juli 2026

Først lagt ut (Faktiske)

22. juli 2026

Oppdateringer av studieposter

Sist oppdatering lagt ut (Faktiske)