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Clinical Phenotype and Prevalence of VEXAS Syndrome in Internal Medicine
Sponsor: Centre Hospitalier Universitaire Vaudois
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.
Official title: FIND-VEXAS Project (Friuli Internal Medicine Network for Detection of VEXAS Syndrome): Clinical Phenotype and Prevalence of VEXAS Syndrome in Internal Medicine
Key Details
Gender
All
Age Range
50 Years - Any
Study Type
OBSERVATIONAL
Enrollment
50
Start Date
2026-07
Completion Date
2028-06
Last Updated
2026-07-16
Healthy Volunteers
No
Conditions
Interventions
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.