ClinicalTrials.gov record NCT07375940

Clinical, Biochemical and Epigenetic Profile of Pediatric Behçet Disease

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

Clinical, Biochemical and Epigenetic Profile of Pediatric Behçet Disease: Similarities and Differences From Adult Patients and Looking for Potential Biomarkers.

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeInterventionalA study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects.
Age6 months old to 70 years old
SexAll
LocationItaly, United Kingdom
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This prospective multicenter study collects blood samples and clinical data from pediatric and adult Behçet disease patients and healthy pediatric controls. It compares cytokine levels, circulating microRNA, genome-wide DNA methylation, and targeted genetic variants. The goal is to define molecular patterns and patient subgroups in pediatric Behçet disease.

What it is studying. Whether clinical and multi-omic (cytokine, microRNA, DNA methylation, and genetic) profiles differ between pediatric and adult Behçet disease and compared with healthy pediatric controls, and whether these molecular signatures can define patient subgroups or associate with disease stages.

What the researchers hope to learn. To identify disease-associated molecular signatures (cytokine patterns, circulating microRNA, DNA methylation profiles, and genetic variants), characterize biologically meaningful patient subgroups, and explore biomarkers linked to disease activity and remission to inform future research into diagnosis and treatment strategies.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Diagnostic test
  • Biomarker analysis of blood samples

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion 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.

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Show the detailed description from the registry

Behçet disease is a chronic inflammatory disorder involving mucocutaneous, ocular, vascular, neurological, gastrointestinal, and musculoskeletal systems. Although the clinical manifestations of pediatric BD are largely similar to those observed in adults, pediatric cases show greater heterogeneity, higher familial aggregation, and frequent diagnostic uncertainty, particularly at early disease stages. The etiopathogenesis of BD remains incompletely understood and is thought to involve a complex interaction between genetic predisposition, immune dysregulation, environmental triggers, and epigenetic mechanisms. Increased levels of pro-inflammatory cytokines, including interleukin (IL)-6, IL-17, and tumor necrosis factor alpha (TNF-α), as well as altered circulating microRNA and DNA methylation profiles, have been reported in adult BD patients, but data in pediatric populations are scarce. This prospective, multicenter, case-control study will enroll pediatric and adult patients with Behçet disease and healthy pediatric controls. Clinical data will be collected longitudinally, and biological samples will be obtained during routine blood draws at predefined disease stages, including diagnosis, sustained remission, and disease flare. The study will evaluate circulating cytokine levels, genome-wide DNA methylation profiles, circulating microRNAs, and genetic variants associated with monogenic autoinflammatory diseases that can mimic BD. Pediatric healthy controls will provide reference epigenetic and microRNA profiles for comparative analyses. Through integrated clinical and molecular analyses, this study aims to identify disease-associated molecular signatures, characterize patient subgroups, and improve understanding of pediatric Behçet disease pathogenesis, potentially supporting future development of personalized diagnostic and therapeutic strategies.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants will have clinical information collected over time and provide blood samples taken during routine clinical visits. Blood samples will be used for research tests such as cytokine profiling, circulating microRNA analysis, DNA methylation profiling, and targeted genetic sequencing for Behçet patients; healthy pediatric controls will have microRNA and DNA methylation analyses only and will not undergo genetic sequencing. Research analyses are for study purposes and will not be used for clinical decision‑making. Follow-up and sample collection may occur at predefined stages (diagnosis, sustained remission, and disease flare) over a period up to 24 months.

How the study is structured. Interventional, non-randomized, parallel study that collects blood samples during routine clinic visits at predefined disease stages (diagnosis, remission, flare). Samples undergo laboratory analyses for cytokines, circulating microRNA, DNA methylation and targeted genetic testing. The study is not masked.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • The registry lists this study under Behcet Disease and Vascular Involvement. Does it apply to my diagnosis?
  • The listed sites are in Italy, United Kingdom. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on familial Mediterranean fever

This trial is also listed on this site under Behçet's disease.

Clinical trials62 trials listed for familial Mediterranean feverEvery trial the registry lists for familial Mediterranean fever, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in familial Mediterranean fever researchLatest monthly update: September 2026. Includes: Colchicine form change. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Jan 12, 2026
Primary completion
January 2036 (estimated)
Study completion
January 2036 (estimated)
Target enrollment
90 participants (estimated)
Last updated on registry
Jan 29, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Meyer Children's Hospital IRCCS
Principal investigator
Gabriele Simonini, MD
Meyer Children's Hospital IRCCS

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (2)

Terms used on this page · explanations by MedicalUpdates.ai

outcome measures
Something the study measures to judge its results, such as a symptom score, a blood test or survival. Outcomes are grouped as primary, secondary and sometimes exploratory.
biomarkers
Something measurable in the body, such as a blood test result or an imaging finding, that indicates how a condition or treatment is behaving.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Study Group
One of the groups in a study. Each arm receives a particular intervention, comparator or no intervention, so the groups can be compared.
Written informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
legal representative
A person who is legally allowed to make decisions, including consent to research, on behalf of someone who cannot consent for themselves.
assent
A child's or dependent adult's agreement to take part, given alongside the formal consent of a parent or legal representative.
1:1
How many participants go to each group. In a 2:1 ratio, two are assigned to the first group for every one assigned to the second.
cohort
A group of people who share a characteristic, such as a diagnosis, and are studied together. 'Prospective' means they are followed forward from enrolment; 'retrospective' means existing records are reviewed.
glucocorticoids
Steroid medicines, such as prednisone, that reduce inflammation. Studies often require a stable dose at entry or measure whether the study treatment allows the dose to be reduced.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

← Back to clinical trials