Clinical, Biochemical and Epigenetic Profile of Pediatric Behçet Disease

NCT07375940 | Recruiting

• 1 other identifier: PED-BD
• Study Type: interventional
• Target: 90
• Locations: 2 countries
• Sites: 2

Brief 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.

Conditions

Behcet Disease and Vascular Involvement

Outcome Measures

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.

  Up to 24 months

Secondary Outcomes (4)

• Circulating microRNA expression levels

  Up to 24 months

• Genome-wide DNA methylation beta values

  Up to 24 months

• Serum cytokine concentrations in Behçet disease

  Up to 24 months

• Presence of pathogenic genetic variants associated with Behçet-like phenotypes

  Baseline

Study Arms (3)

Pediatric Behçet Disease Patients

OTHER

Pediatric patients (\<18 years) with a diagnosis of Behçet disease. Blood samples collected during routine clinical visits will be analyzed for research purposes, including cytokine profiling, circulating microRNA analysis, DNA methylation profiling, and genetic sequencing. These analyses are not used for clinical decision-making.

Diagnostic Test: Biomarker analysis of blood samples

Adult Behçet Disease Patients

EXPERIMENTAL

Adult patients (≥18 years) with a diagnosis of Behçet disease. Blood samples collected during routine clinical visits will be analyzed for research purposes, including cytokine profiling, circulating microRNA analysis, DNA methylation profiling, and genetic sequencing. These analyses are not used for clinical decision-making

Diagnostic Test: Biomarker analysis of blood samples

Healthy Pediatric Controls

EXPERIMENTAL

Healthy pediatric subjects (\<18 years) undergoing routine blood testing for non-inflammatory conditions. Blood samples will be analyzed for research purposes, including circulating microRNA analysis and DNA methylation profiling, and used as reference controls for comparative analyses.

Diagnostic Test: Biomarker analysis of blood samples

Interventions

Biomarker analysis of blood samples DIAGNOSTIC_TEST

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.

Healthy Pediatric Controls

Eligibility Criteria

• Age: 6 Months - 70 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Meyer Children's Hospital IRCCS: lead

Study Sites (2)

Aou Meyer IRCSS

Florence, Florence, 50139, Italy

RECRUITING

Alder Hey Children's Hospital,

Liverpool, Liverpool, United Kingdom

NOT YET RECRUITING

MeSH Terms

Conditions

Behcet Syndrome

Condition Hierarchy (Ancestors)

Mouth Diseases; Stomatognathic Diseases; Uveitis, Anterior; Panuveitis; Uveitis; Uveal Diseases; Eye Diseases; Vasculitis; Vascular Diseases; Cardiovascular Diseases; Hereditary Autoinflammatory Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases, Genetic; Skin Diseases; Skin and Connective Tissue Diseases; Skin Diseases, Vascular

Central Study Contacts

Gabriele Simonini

CONTACT

+390555662545; gabriele.simonini@unifi.it

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD

Study Record Dates

• First Submitted: January 22, 2026
• First Posted: January 29, 2026
• Study Start: January 12, 2026
• Primary Completion (Estimated): January 1, 2036
• Study Completion (Estimated): January 1, 2036
• Last Updated: January 29, 2026

Record last verified: 2026-01

Locations

GB (1); IT (1)