MedTrace Logo

Clinical Phenotype and Prevalence of VEXAS Syndrome in Internal Medicine

NCT07708688 · Status: NOT_YET_RECRUITING · Type: OBSERVATIONAL · Enrollment: 50

Last updated 2026-07-16

No results posted yet for this study

Summary

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.

Conditions

  • Vexas Syndrome

Interventions

DIAGNOSTIC_TEST

UBA1 Genetic Testing

Blood or bone marrow samples from participants with clinical features suggestive of VEXAS syndrome will be analyzed for somatic mutations in the UBA1 gene. Molecular testing will be performed centrally at the Immunology Laboratory of IRCCS Burlo Garofolo in Trieste.

Sponsors & Collaborators

  • IRCCS Burlo Garofolo

    collaborator OTHER

  • FADOI-Friuli Venezia Giulia Network)

    collaborator UNKNOWN

  • Centre Hospitalier Universitaire Vaudois

    lead OTHER

Principal Investigators

  • Giacomo Emmi, MD, PhD · CHUV Service d'immunologie et allergie, Lausanne, Switzerland

  • Francesco Zaja · University of Trieste

  • Fabio Fiammengo · FADOI-Friuli Venezia Giulia Network)

  • Alberto Tommasini · IRCCS Burlo Garofolo

  • Maria Letizia Urban · University of Trieste

Eligibility

Min Age
50 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2026-07-31
Primary Completion
2028-06-30
Completion
2028-06-30

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07708688 on ClinicalTrials.gov