Clinical, biochemical, and epigenetic profiling in children with Behçet disease
Clinical, Biochemical and Epigenetic Profile of Pediatric Behçet Disease: Similarities and Differences From Adult Patients and Looking for Potential Biomarkers.
This project will test whether blood-based clinical, genetic, and epigenetic markers can identify biologically distinct subgroups of children with Behçet disease.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 90 (estimated) |
| Ages | 6 Months to 70 Years |
| Sex | All |
| Sponsor | Meyer Children's Hospital IRCCS Academic / other |
| Locations | 2 sites (Florence, Florence and 1 other locations) |
| Trial ID | NCT07375940 on ClinicalTrials.gov |
What this trial studies
This is a prospective, multicenter case-control effort enrolling pediatric Behçet patients, adult Behçet patients, and healthy pediatric controls with longitudinal clinical data and blood sampling at diagnosis, remission, and flare. The study measures circulating cytokines, microRNA profiles, genome-wide DNA methylation, and targeted genetic variants linked to monogenic autoinflammatory conditions. By integrating these multi-omic data with clinical features, the investigators aim to define meaningful patient subgroups and improve disease stratification. Findings will be compared with adult BD profiles to highlight pediatric-specific signatures.
Who should consider this trial
Good fit: Ideal participants are children and adolescents with a confirmed Behçet diagnosis (per ICBD, ISG, or PEDBD criteria) who can provide consent/assent, plus matched healthy pediatric controls for comparison.
Not a fit: Patients without Behçet disease, those with an alternative unexcluded diagnosis, or those unwilling/unable to provide informed consent are unlikely to receive direct benefit from participation.
Why it matters
Potential benefit: If successful, the work could help doctors classify children with Behçet disease into biologically distinct groups to improve prognosis and guide more personalized treatment choices.
How similar studies have performed: Biomarker studies in adults with Behçet disease have reported altered cytokine, microRNA, and DNA methylation patterns, but comparable multimodal profiling in pediatric populations is limited and largely untested.
Eligibility criteria
Show full inclusion / exclusion criteria
Cases Inclusion Criteria : * 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. Cases Exclusion Criteria: * 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. Healthy Controls Exclusion Criteria * 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.
Where this trial is running
Florence, Florence and 1 other locations
- Aou Meyer IRCSS — Florence, Florence, Italy (Recruiting)
- Alder Hey Children's Hospital, — Liverpool, Liverpool, United Kingdom (Not_yet_recruiting)
Study contacts
- Study coordinator: Gabriele Simonini
- Email: gabriele.simonini@unifi.it
- Phone: +390555662545
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.