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Clinical Phenotype and Prevalence of VEXAS Syndrome in Internal Medicine

ConditionVexas Syndrome
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

This trial does not accept healthy volunteers

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 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.

Trial design

Design model

Cohort

Time perspective

Cross-sectional

Treatments tested in this trial

  • 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.

Treatment groups

50 Participants
are divided into 1 treatment group
Group A: Patients With Suspected VEXAS Syndrome1 intervention

Trial outcomes

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.

Time frame
Through study completion, up to 24 months

Secondary outcomes

1

Clinical Characteristics of Participants With Suspected or Genetically Confirmed VEXAS Syndrome

Frequency and distribution of clinical manifestations among participants with suspected or genetically confirmed VEXAS syndrome, including fever and involvement of the skin, lungs, joints, cartilage, and blood vessels.

Time frame
At study inclusion
2

Hematologic Characteristics of Participants With Suspected or Genetically Confirmed VEXAS Syndrome

Frequency and distribution of hematologic abnormalities, including macrocytic anemia, thrombocytopenia, other cytopenias, and associated hematologic disorders such as myelodysplastic syndrome.

Time frame
At study inclusion
3

Inflammatory Profile of Participants With Suspected or Genetically Confirmed VEXAS Syndrome

Description of inflammatory laboratory findings, including C-reactive protein and erythrocyte sedimentation rate values, in participants with suspected or genetically confirmed VEXAS syndrome.

Time frame
At study inclusion

Other outcomes

Locations

This trial has no locations.

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Centre Hospitalier Universitaire Vaudois

Lead sponsor

IRCCS Burlo Garofolo

Collaborator

FADOI-Friuli Venezia Giulia Network)

Collaborator

Source ClinicalTrials.gov

This trial is not recruiting at the moment. You can still explore other options: