Behcet Disease and Vascular InvolvementPED-BDNCT07375940
Clinical, Biochemical and Epigenetic Profile of Pediatric Behçet Disease
A study testing Biomarker analysis of blood samples in people with Behcet Disease and Vascular Involvement, run by Meyer Children's Hospital IRCCS at 2 sites in 2 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 6 months to 70 years
- Conditions the study is for
- Behcet Disease and Vascular Involvement
- What is being tested?
- Biomarker analysis of blood samples
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 90 participants
- Where
- 2 sitesin 2 countries
- Study dates
- 12 Jan 2026to Jan 2036
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 months to 70 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Trial locations and contacts
2 sites in 2 countries. Contact the study team or a site near you to ask about taking part.
2 sites in 2 countries
Italy1 site, 1 recruiting
- Recruiting
Aou Meyer IRCSS
Florence, Florence, 50139
Gabriele Simonini, +390555662545
United Kingdom1 site, 1 recruiting
- Not yet recruiting
Alder Hey Children's Hospital,
Liverpool, Liverpool
Christian Hedrich, +44 (0) 151 794 2000, chedrich@liverpool.ac.uk
About this study
Official title: Clinical, Biochemical and Epigenetic Profile of Pediatric Behçet Disease: Similarities and Differences From Adult Patients and Looking for Potential Biomarkers.
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.
Read more
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.
Read the detailed description
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.
- Conditions
- Behcet Disease and Vascular Involvement
- Being tested
- Biomarker analysis of blood samples
- Medical subject headings
- Behcet Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Biomarker analysis of blood samplesDiagnostic 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.
Biomarker analysis of blood samplesDiagnostic test
Research 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 samplesDiagnostic test
Research 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.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: 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 Receives: 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. Receives: Diagnostic Test: Biomarker analysis of blood samples |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Up to 24 months
Secondary outcomes (4)
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.
Measured: Up to 24 months
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.
Measured: Up to 24 months
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.
Measured: Up to 24 months
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.
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Jan 2026
- Study start12 Jan 2026
- Primary completionJan 2036 (estimated)
- Study completionJan 2036 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Behcet Disease and Vascular InvolvementStudies of the same condition, open and under way.
- More trials run by Meyer Children's Hospital IRCCSThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 90 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Meyer Children's Hospital IRCCS
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Gabriele Simonini, Meyer Children's Hospital IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07375940
- Sponsor's protocol ID
- PED-BD
- Acronym
- PED-BD
- Status last verified
- Jan 2026
- First submitted
- 22 Jan 2026
- Last updated
- 29 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical, Biochemical and Epigenetic Profile of Pediatric Behçet Disease: Similarities and Differences From Adult Patients and Looking for Potential Biomarkers.
- ClinicalTrials.gov ID
- NCT07375940
- Acronym / sponsor ID
- PED-BD / PED-BD
- Conditions
- Behcet Disease and Vascular Involvement
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 90 participants (estimated)
- Lead sponsor
- Meyer Children's Hospital IRCCSUniversity, hospital or other
- Study start
- 12 Jan 2026 (actual)
- Primary completion
- Jan 2036 (estimated)
- Study completion
- Jan 2036 (estimated)
- First posted
- 29 Jan 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Pediatric Behçet Disease Patients | Other | Diagnostic Test: Biomarker analysis of blood samplesPediatric 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. |
| Adult Behçet Disease Patients | Experimental | Diagnostic Test: Biomarker analysis of blood samplesAdult 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 |
| Healthy Pediatric Controls | Experimental | Diagnostic Test: Biomarker analysis of blood samplesHealthy 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. |
Who may qualify
- Ages
- 6 months to 70 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Biomarker analysis of blood samplesResearch 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. | Diagnostic test | Healthy Pediatric Controls |
| Biomarker analysis of blood samplesResearch 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. | Diagnostic test | Adult Behçet Disease Patients |
| Biomarker analysis of blood samplesResearch 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. | Diagnostic test | Pediatric Behçet Disease Patients |
Primary outcome
Quantitative biomarker profiles in Behçet disease
Time frame: Up to 24 months
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.
4 secondary outcomes
Circulating microRNA expression levels
Time frame: Up to 24 months
Genome-wide DNA methylation beta values
Time frame: Up to 24 months
Serum cytokine concentrations in Behçet disease
Time frame: Up to 24 months
Presence of pathogenic genetic variants associated with Behçet-like phenotypes
Time frame: Baseline
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Jan 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
2 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Biomarker analysis of blood samples in people with Behcet Disease and Vascular Involvement, run by Meyer Children's Hospital IRCCS at 2 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 29 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Italy, United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Gabriele Simonini (+390555662545, gabriele.simonini@unifi.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Quantitative biomarker profiles in Behçet disease (time frame: Up to 24 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Jan 2026.