Clinical, biochemical, and epigenetic profiling in children with Behçet disease

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.