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NCT07718555
Host-microbiota Interactions in Auto-inflammatory Diseases
Conditions: Autoinflammatory Diseases
Sex: All
Ages: 12 Years – N/A
Healthy volunteers: No
Enrollment: 300
Sponsor: Assistance Publique - Hôpitaux de Paris
Location: Internal medicine, Tenon Hospital (APHP) Paris
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 Criteria
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
Source: ClinicalTrials.gov (NCT07718555). StuddyBuddy aggregates publicly available trial information.