Clinical Phenotype and Prevalence of VEXAS Syndrome in Internal Medicine

NCT07708688 | Not Yet Recruiting

• 1 other identifier: FIND-VEXAS-01
• Study Type: observational
• Target: 50
• Locations: 0 countries
• Sites: N/A

Brief 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

Keywords

VEXAS Syndrome; UBA1 Mutation; Systemic Inflammation; Prevalence; incidence

Outcome Measures

Primary Outcomes (1)

• Prevalence of Genetically Confirmed VEXAS Syndrome

  Proportion of enrolled participants with a somatic pathogenic mutation in the UBA1 gene confirming the diagnosis of VEXAS syndrome. Prevalence will be calculated as the number of genetically confirmed VEXAS cases divided by the total number of participants included in the study and evaluated according to the study screening pathway.

  Through study completion, up to 24 months

Secondary Outcomes (3)

• Clinical Characteristics of Participants With Suspected or Genetically Confirmed VEXAS Syndrome

  At study inclusion

• Hematologic Characteristics of Participants With Suspected or Genetically Confirmed VEXAS Syndrome

  At study inclusion

• Inflammatory Profile of Participants With Suspected or Genetically Confirmed VEXAS Syndrome

  At study inclusion

Study Arms (1)

Patients With Suspected VEXAS Syndrome

Adults older than 50 years admitted to participating Internal Medicine departments with otherwise unexplained systemic inflammation and hematologic abnormalities, including fever, elevated inflammatory markers, macrocytic anemia, thrombocytopenia, or other cytopenias. Participants will be assessed using routinely available clinical, laboratory, and imaging data. Patients meeting the predefined criteria for suspected VEXAS syndrome will undergo molecular testing for UBA1 mutations

Diagnostic Test: UBA1 Genetic Testing

Interventions

UBA1 Genetic Testing DIAGNOSTIC_TEST

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.

Also known as: Molecular confirmation of VEXAS syndrome

Patients With Suspected VEXAS Syndrome

Eligibility Criteria

• Age: 50 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adults older than 50 years admitted to participating Internal Medicine departments of the FADOI Friuli Venezia Giulia network with otherwise unexplained systemic inflammation and/or hematologic abnormalities, including fever, elevated inflammatory markers, macrocytic anemia, thrombocytopenia, other cytopenias, or systemic inflammatory manifestations without a clear etiology. Clinical, laboratory, and imaging data routinely available during hospital care will be used to identify participants with features suggestive of VEXAS syndrome. Selected suspected cases will undergo confirmatory UBA1 genetic testing.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Centre Hospitalier Universitaire Vaudois: lead
• IRCCS Burlo Garofolo: collaborator
• FADOI-Friuli Venezia Giulia Network): collaborator

MeSH Terms

Conditions

VEXAS syndrome

Study Officials

• Giacomo Emmi, MD, PhD

  CHUV Service d'immunologie et allergie, Lausanne, Switzerland

  PRINCIPAL INVESTIGATOR

• Francesco Zaja

  University of Trieste

  STUDY CHAIR

• Fabio Fiammengo

  FADOI-Friuli Venezia Giulia Network)

  STUDY CHAIR

• Alberto Tommasini

  IRCCS Burlo Garofolo

  STUDY CHAIR

• Maria Letizia Urban

  University of Trieste

  STUDY CHAIR

Central Study Contacts

Giacomo Emmi, MD, PhD

CONTACT

+393286852815; giacomo.emmi@chuv.ch

Maria Letizia Urban, MD, PhD

CONTACT

+393478732241; marialetizia.urban@units.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: July 13, 2026
• First Posted: July 16, 2026
• Study Start: July 1, 2026
• Primary Completion (Estimated): June 1, 2028
• Study Completion (Estimated): June 1, 2028
• Last Updated: July 16, 2026

Record last verified: 2026-07

Data Sharing

• IPD Sharing: Will not share