Clinical, Biochemical and Epigenetic Profile of Pediatric Behçet Disease
Clinical, Biochemical and Epigenetic Profile of Pediatric Behçet Disease: Similarities and Differences From Adult Patients and Looking for Potential Biomarkers.
Meyer Children's Hospital IRCCS
90 participants
Jan 12, 2026
INTERVENTIONAL
Conditions
Summary
Behçet disease (BD) is a chronic multisystem inflammatory disorder with a relapsing-remitting course. Pediatric-onset BD is rare and characterized by marked clinical heterogeneity, frequent incomplete presentation at disease onset, and limited availability of pediatric-specific outcome measures and biomarkers. This prospective multicenter study aims to comprehensively characterize the clinical, biochemical, genetic, and epigenetic profiles of pediatric patients with Behçet disease and to compare them with adult BD patients and healthy pediatric controls. The study focuses on the identification of disease-associated cytokine patterns, circulating microRNA profiles, DNA methylation signatures, and genetic variants associated with monogenic autoinflammatory diseases presenting with a Behçet-like phenotype. By integrating clinical data with multi-omic analyses, this study seeks to identify biologically and clinically meaningful patient subgroups, improve disease stratification, and explore potential biomarkers of disease activity and remission in pediatric Behçet disease.
Eligibility
Inclusion Criteria3
- BD diagnosis according to at least one of the three sets of classification criteria \[International Criteria for Behçet's Disease (ICBD), International Study Group (ISG) and Pediatric Behçet's disease criteria PEDBD)\];
- Age 6 months to 70 years old.
- Written informed consent from appropriate legal representative(s), and assent from patients who have not reached the age of consent.
Exclusion Criteria14
- Patients who do not meet the BD criteria OR
- Patients for whom an alternative diagnosis was not investigated and/or excluded OR
- Absence of a written informed consent.
- Healthy pediatric controls:
- Patients evaluated at the Meyer Children's Hospital IRCCS Rheumatology Outpatient Clinic who are scheduled to undergo routine hematochemical tests, not for suspected inflammatory or autoimmune conditions.
- Age < 18 years, matched 1:1 by age and sex with the pediatric Behçet disease (BD) cohort.
- Absence of recent or ongoing inflammatory conditions, verified through structured medical history and physical examination.
- No clinical signs suggestive of chronic autoinflammatory or autoimmune diseases at physical examination .
- No recent prolonged use (more than 7 consecutive days within the past 4 weeks) of anti-inflammatory, glucocorticoids, immunomodulatory, therapies or antibiotics.
- Written informed consent from the legal guardian(s) and assent from minors when appropriate.
- Diagnosis of acute or chronic inflammatory, autoimmune, or autoinflammatory conditions after the collection of structured medical history and physical examination
- Current or recent prolonged use (more than 7 consecutive days within the past 4 weeks) of anti-inflammatory drugs, gluccocorticoids, immunomodulatory agents, or antibiotics.
- Routine blood tests not performed during the visit.
- Absence of written informed consent.
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Interventions
Research laboratory analyses will be performed on blood samples collected during routine clinical care. For pediatric Behçet disease patients, analyses include cytokine profiling (IL-6, IL-10, IL-17, TNF-α), circulating microRNA profiling, DNA methylation profiling, and targeted genetic sequencing for genes associated with monogenic Behçet-like phenotypes.
Research laboratory analyses will be performed on blood samples collected during routine clinical care. For Adult Behçet disease patients, analyses include cytokine profiling (IL-6, IL-10, IL-17, TNF-α), circulating microRNA profiling, DNA methylation profiling, and targeted genetic sequencing for genes associated with monogenic Behçet-like phenotypes.
Research laboratory analyses will be performed on blood samples collected during routine clinical care. For healthy pediatric controls, analyses are limited to circulating microRNA profiling and DNA methylation profiling only; no genetic testing/DNA sequencing will be performed in this group.
Locations(2)
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NCT07375940