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

17 juli 2026 bijgewerkt door: 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.

Studie Overzicht

Toestand

Werving

Conditie

Auto-inflammatoire ziekten

Gedetailleerde beschrijving

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

Observationeel

Inschrijving (Geschat)

300

Contacten en locaties

In dit gedeelte vindt u de contactgegevens van degenen die het onderzoek uitvoeren en informatie over waar dit onderzoek wordt uitgevoerd.

Studiecontact

Naam: Sophie GEOGIN-LAVIALLE, MD PhD
Telefoonnummer: +33 01 56 01 70 82
E-mail: sophie.georgin-lavialle@aphp.fr

Studie Contact Back-up

Naam: Inès ELHANI, MD
Telefoonnummer: +33 01 56 01 70 82
E-mail: ines.elhani@aphp.fr

Studie Locaties

Frankrijk
- - Paris, Frankrijk, 75020
    - Werving
    - Internal medicine, Tenon Hospital (APHP)
    - Contact:
      
      Inès ELHANI, MD
      
      Telefoonnummer: +33 01 56 01 70 82
      
      E-mail: ines.elhani@aphp.fr
    - Contact:
      
      Sophie GEORGIN-LAVIALLE, MD, PhD
      
      Telefoonnummer: +33 01 56 01 70 82
      
      E-mail: sophie.georgin-lavialle@aphp.fr

Deelname Criteria

Onderzoekers zoeken naar mensen die aan een bepaalde beschrijving voldoen, de zogenaamde geschiktheidscriteria. Enkele voorbeelden van deze criteria zijn iemands algemene gezondheidstoestand of eerdere behandelingen.

Geschiktheidscriteria

Leeftijden die in aanmerking komen voor studie

Kind
Volwassen
Oudere volwassene

Accepteert gezonde vrijwilligers

Nee

Bemonsteringsmethode

Niet-waarschijnlijkheidssteekproef

Studie Bevolking

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.

Beschrijving

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

Studie plan

Dit gedeelte bevat details van het studieplan, inclusief hoe de studie is opgezet en wat de studie meet.

Hoe is de studie opgezet?

Ontwerpdetails

Aantal groepen / cohorten

Cohorten en interventies

Groep / Cohort
Patients with autoinflammatory diseases

Wat meet het onderzoek?

Primaire uitkomstmaten

Uitkomstmaat	Maatregel Beschrijving	Tijdsspanne
Stool and blood Gut-derived metabolites in patients with AID Tijdsspanne: 3 months	Quantification of gut-derived metabolites in stools using mass spectrometry	3 months
Stool and blood Gut-derived metabolites in patients with AID Tijdsspanne: 3 months	Qualitative evaluation of gut-derived metabolites in stools	3 months

Secundaire uitkomstmaten

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

Medewerkers en onderzoekers

Hier vindt u mensen en organisaties die betrokken zijn bij dit onderzoek.

Sponsor

Assistance Publique - Hôpitaux de Paris

Onderzoekers

Hoofdonderzoeker: Sophie GEORGIN-LAVIALLE, APHP

Studie record data

Deze datums volgen de voortgang van het onderzoeksdossier en de samenvatting van de ingediende resultaten bij ClinicalTrials.gov. Studieverslagen en gerapporteerde resultaten worden beoordeeld door de National Library of Medicine (NLM) om er zeker van te zijn dat ze voldoen aan specifieke kwaliteitscontrolenormen voordat ze op de openbare website worden geplaatst.

Bestudeer belangrijke data

Studie start (Werkelijk)

9 maart 2026

Primaire voltooiing (Geschat)

1 september 2026

Studie voltooiing (Geschat)

1 september 2029

Studieregistratiedata

Eerst ingediend

20 april 2026

Eerst ingediend dat voldeed aan de QC-criteria

17 juli 2026

Eerst geplaatst (Werkelijk)

22 juli 2026

Updates van studierecords

Laatste update geplaatst (Werkelijk)