Clinical, Biochemical and Epigenetic Profile of Pediatric Behçet Disease
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age6-70
SponsorMeyer Children's Hospital IRCCS
About this trial
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 criteria
This trial does not accept healthy volunteersQualifiers
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.
Disqualifiers
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.
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.
Trial design
Design model
Parallel
Treatments tested in this trial
Biomarker analysis of blood samples
Diagnostic testResearch 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.
Biomarker analysis of blood samples
Diagnostic testResearch 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.
Biomarker analysis of blood samples
Diagnostic testResearch 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.
Treatment groups
90 Participants
are divided into 3 treatment groupsGroup A: Pediatric Behçet Disease PatientsOther 1 intervention
Group B: Adult Behçet Disease PatientsExperimental treatment 1 intervention
Group C: Healthy Pediatric ControlsExperimental treatment 1 intervention
Trial outcomes
Primary outcomes
1
Quantitative biomarker profiles in Behçet disease
Quantitative measurement of circulating biomarker levels in blood samples, including serum cytokine concentrations (IL-6, IL-10, IL-17, TNF-α), circulating microRNA expression levels, DNA methylation beta values at genome-wide CpG sites, and presence or absence of pathogenic genetic variants associated with monogenic Behçet-like diseases. Biomarker measurements will be obtained in pediatric and adult patients with Behçet disease and, where applicable, compared with healthy pediatric controls to evaluate differences across disease status and age groups.
Time frame
Up to 24 monthsSecondary outcomes
1
Circulating microRNA expression levels
Quantitative assessment of circulating microRNA expression levels in plasma samples obtained from pediatric and adult patients with Behçet disease and healthy pediatric controls, measured using microarray-based profiling and validation assays.
Time frame
Up to 24 months2
Genome-wide DNA methylation beta values
Quantitative measurement of genome-wide DNA methylation beta values at CpG sites in genomic DNA extracted from blood samples collected from pediatric and adult patients with Behçet disease and healthy pediatric controls.
Time frame
Up to 24 months3
Serum cytokine concentrations in Behçet disease
Quantitative measurement of serum cytokine concentrations, including interleukin-6 (IL-6), interleukin-10 (IL-10), interleukin-17 (IL-17), and tumor necrosis factor alpha (TNF-α), measured in blood samples collected from pediatric and adult patients with Behçet disease during diagnosis, disease flare, and sustained remission.
Time frame
Up to 24 months4
Presence of pathogenic genetic variants associated with Behçet-like phenotypes
Detection and quantification of the presence or absence of pathogenic or likely pathogenic genetic variants in genes associated with monogenic autoinflammatory diseases presenting with a Behçet-like phenotype, assessed through targeted next-generation sequencing in pediatric and adult patients with Behçet disease.
Time frame
BaselineSponsors and contacts
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Source ClinicalTrials.gov