ClinicalTrials.gov record NCT07708688

Clinical Phenotype and Prevalence of VEXAS Syndrome in Internal Medicine

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

FIND-VEXAS Project (Friuli Internal Medicine Network for Detection of VEXAS Syndrome): Clinical Phenotype and Prevalence of VEXAS Syndrome in Internal Medicine

StatusNot yet recruitingThe study has been registered but has not started enrolling. Sites and contacts may not be listed yet.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Age50 years old and older
SexAll
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.

The FIND-VEXAS project is a multicenter, cross-sectional observational study in Internal Medicine departments. It enrols adults older than 50 years admitted with otherwise unexplained systemic inflammation or hematologic abnormalities. Routine clinical, laboratory, and imaging data will be reviewed and suspected cases may undergo central UBA1 genetic testing to estimate how common genetically confirmed VEXAS is and to describe patients' clinical and laboratory features.

What it is studying. The study aims to measure the prevalence of genetically confirmed VEXAS (UBA1 mutations) among adults older than 50 with unexplained inflammation or blood-cell abnormalities, and to describe their clinical signs, hematologic findings, inflammatory laboratory results, and organ involvement.

What the researchers hope to learn. Primary goal: estimate the prevalence of genetically confirmed VEXAS in the Internal Medicine setting. Secondary goals: describe the clinical presentation, hematologic features, and inflammatory profile of suspected or confirmed cases; inform clinically applicable screening criteria and strengthen collaboration between Internal Medicine and specialized Immunology/Hematology laboratories.

What this study is about

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

The FIND-VEXAS project is a multicenter, cross-sectional observational study conducted in Internal Medicine departments in the Friuli Venezia Giulia region of Italy. The study aims to estimate how frequently VEXAS syndrome occurs among adults older than 50 years who are admitted to Internal Medicine units with otherwise unexplained systemic inflammation or hematologic abnormalities, such as fever, elevated inflammatory markers, macrocytic anemia, thrombocytopenia, or other cytopenias. Participants will be assessed using clinical information, physical examination findings, routine laboratory tests, and imaging data. Patients with findings suggestive of VEXAS syndrome will be selected for confirmatory genetic testing of the UBA1 gene using blood or bone marrow samples. In addition to estimating the prevalence of genetically confirmed VEXAS syndrome, the study will describe the clinical manifestations, hematologic abnormalities, inflammatory profile, and organ involvement of patients with suspected or confirmed 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
  • UBA1 Genetic Testing

Eligibility

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

Inclusion criteria

  • Age older than 50 years.
  • Admission to a participating Internal Medicine department within the FADOI Friuli Venezia Giulia network.
  • Presence of otherwise unexplained systemic inflammation and/or hematologic abnormalities.
  • At least one of the following clinical or laboratory findings:
  • unexplained fever;
  • elevated C-reactive protein and/or erythrocyte sedimentation rate;
  • macrocytic anemia;
  • thrombocytopenia or other cytopenias;
  • systemic inflammatory manifestations without a clearly identified cause.
  • Availability of clinical, laboratory, and imaging data required for assessment according to the study screening pathway.
  • Provision of informed consent, where required by the approved study protocol and applicable regulations.

Exclusion criteria

  • Systemic inflammation adequately explained by an active infection.
  • Systemic inflammation adequately explained by a solid malignancy.
  • Clinical or laboratory abnormalities with another clearly established etiology.
  • Insufficient clinical or laboratory information to assess eligibility according to the study screening pathway.
  • Inability or refusal to provide informed consent, where consent is required.

Study description and what participation involves

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

Show the detailed description from the registry

VEXAS syndrome is an adult-onset autoinflammatory disease caused by acquired somatic mutations in the UBA1 gene. The condition is characterized by systemic inflammation, cytopenias, and multiorgan involvement, which may affect the skin, lungs, joints, cartilage, and blood vessels. VEXAS syndrome may also overlap with hematologic disorders, including myelodysplastic syndromes. The disorder mainly affects men older than 50 years, a population frequently admitted to Internal Medicine departments. Patients with VEXAS syndrome may initially present with nonspecific findings such as unexplained fever, persistently elevated C-reactive protein or erythrocyte sedimentation rate, macrocytic anemia, thrombocytopenia, other cytopenias, or systemic inflammation without an identifiable infectious, neoplastic, or other clear cause. The FIND-VEXAS project is a multicenter, cross-sectional observational study involving Internal Medicine departments affiliated with the FADOI Friuli Venezia Giulia network. The planned study duration is 24 months. Eligible participants will be adults older than 50 years who are admitted with unexplained inflammatory and hematologic abnormalities. Participating centers will use routinely available clinical, laboratory, and imaging information to identify patients with features suggestive of VEXAS syndrome. The assessment may include medical history, physical examination, standard blood tests, and radiological examinations performed as part of routine clinical care. A structured screening pathway will be used to support diagnostic suspicion and identify patients who should undergo molecular confirmation. Blood or bone marrow samples from patients with suspected VEXAS syndrome will be sent to the Immunology Laboratory at IRCCS Burlo Garofolo in Trieste, which will act as the regional reference center for UBA1 sequencing. Suspected cases identified across participating Internal Medicine departments will therefore be centralized for genetic confirmation. The primary objective is to estimate the prevalence of genetically confirmed VEXAS syndrome in the Internal Medicine setting. Additional objectives are to describe the clinical presentation, hematologic features, inflammatory profile, and patterns of organ involvement among patients with suspected or genetically confirmed VEXAS syndrome. The study is expected to improve recognition of VEXAS syndrome through clinically applicable screening criteria and to strengthen collaboration between Internal Medicine departments and specialized Immunology and Hematology laboratories.

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.

Clinical information, physical exam findings, routine laboratory tests, and imaging already done as part of care will be reviewed for study screening. Patients who meet the study's predefined suspicion criteria may have molecular testing for UBA1 mutations using a blood sample or, if needed, a bone marrow sample; those samples will be sent to the designated laboratory for sequencing. Participation uses data and tests performed as part of routine hospital care; any additional procedures (for example bone marrow sampling) will be done only when specified by the screening pathway and with consent.

How the study is structured. Multicenter, cross-sectional observational cohort. Researchers will use routine clinical, lab, and imaging information from hospitalized patients; those meeting predefined screening criteria will have blood or bone marrow sent to a central laboratory (IRCCS Burlo Garofolo, Trieste) for UBA1 sequencing. No treatment is assigned by the study.

Questions you could ask

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

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The registry says recruitment has not started. When is it expected to open, and can I register interest now?
  • No sites are listed on the registry yet. Where will the study take place?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on VEXAS syndrome

Clinical trials11 trials listed for VEXAS syndromeEvery trial the registry lists for VEXAS syndrome, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in VEXAS syndrome researchLatest monthly update: September 2026. Includes: IL-6 and JAK drugs. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
July 2026 (estimated)
Primary completion
June 2028 (estimated)
Study completion
June 2028 (estimated)
Target enrollment
50 participants (estimated)
Last updated on registry
Jul 16, 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
Centre Hospitalier Universitaire Vaudois
Principal investigator
Giacomo Emmi, Professor
Centre Hospitalier Universitaire Vaudois
Collaborators
  • IRCCS Burlo Garofolo
  • FADOI-Friuli Venezia Giulia Network)

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

Study locations have not been posted on ClinicalTrials.gov yet. This study is not yet recruiting, so sites may be added when recruitment begins. The central study contact above may be able to tell you about planned sites.

Terms used on this page · explanations by MedicalUpdates.ai

study screening
The checks done before enrolment to see whether a person qualifies, such as tests, scans or a review of medical history.
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.
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.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
primary objective
The main result the study is designed to measure and report on. Other results, called secondary outcomes, are also collected.

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 website; 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.

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