Clinical Phenotype and Prevalence of VEXAS Syndrome in Internal Medicine

Trial statusNot yet recruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age50+
SponsorCentre Hospitalier Universitaire Vaudois

About this trial

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.

Eligibility criteria

Qualifiers

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.

unexplained fever;

Disqualifiers

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.

Trial design

Treatments tested in this trial

  • UBA1 Genetic Testing

Treatment groups

50 Participants
are divided into 1 treatment group

Locations

This trial has no locations

Sponsors and collaborators

Centre Hospitalier Universitaire Vaudois

Lead sponsor

IRCCS Burlo Garofolo

Collaborator

FADOI-Friuli Venezia Giulia Network)

Collaborator