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Not yet recruiting NCT07708688

Clinical Phenotype and Prevalence of VEXAS Syndrome in Internal Medicine

— Observational Vexas Syndrome

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: UBA1 Genetic Testing.
Who it may be relevant to
Registry conditions: Vexas Syndrome. Basic parameters: from 50 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
Center list to be confirmed — check the primary protocol.
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

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Official title

FIND-VEXAS Project (Friuli Internal Medicine Network for Detection of VEXAS Syndrome): Clinical Phenotype and Prevalence of VEXAS Syndrome in Internal Medicine

Overview

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.

Detailed description

VEXAS syndrome is an adult-onset autoinflammatory disease caused by acquired somatic mutations in the UBA1 gene. The condition is characterized by systemic inflammation, cytopenias, and multiorgan involvement, which may affect the skin, lungs, joints, cartilage, and blood vessels. VEXAS syndrome may also overlap with hematologic disorders, including myelodysplastic syndromes.

The disorder mainly affects men older than 50 years, a population frequently admitted to Internal Medicine departments. Patients with VEXAS syndrome may initially present with nonspecific findings such as unexplained fever, persistently elevated C-reactive protein or erythrocyte sedimentation rate, macrocytic anemia, thrombocytopenia, other cytopenias, or systemic inflammation without an identifiable infectious, neoplastic, or other clear cause.

The FIND-VEXAS project is a multicenter, cross-sectional observational study involving Internal Medicine departments affiliated with the FADOI Friuli Venezia Giulia network. The planned study duration is 24 months. Eligible participants will be adults older than 50 years who are admitted with unexplained inflammatory and hematologic abnormalities.

Participating centers will use routinely available clinical, laboratory, and imaging information to identify patients with features suggestive of VEXAS syndrome. The assessment may include medical history, physical examination, standard blood tests, and radiological examinations performed as part of routine clinical care. A structured screening pathway will be used to support diagnostic suspicion and identify patients who should undergo molecular confirmation.

Blood or bone marrow samples from patients with suspected VEXAS syndrome will be sent to the Immunology Laboratory at IRCCS Burlo Garofolo in Trieste, which will act as the regional reference center for UBA1 sequencing. Suspected cases identified across participating Internal Medicine departments will therefore be centralized for genetic confirmation.

The primary objective is to estimate the prevalence of genetically confirmed VEXAS syndrome in the Internal Medicine setting. Additional objectives are to describe the clinical presentation, hematologic features, inflammatory profile, and patterns of organ involvement among patients with suspected or genetically confirmed VEXAS syndrome.

The study is expected to improve recognition of VEXAS syndrome through clinically applicable screening criteria and to strengthen collaboration between Internal Medicine departments and specialized Immunology and Hematology laboratories.

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.

Primary outcome measures

  • Prevalence of Genetically Confirmed VEXAS Syndrome [Time frame: Through study completion, up to 24 months]
Secondary outcome measures (3)
  • Clinical Characteristics of Participants With Suspected or Genetically Confirmed VEXAS Syndrome [Time frame: At study inclusion]
  • Hematologic Characteristics of Participants With Suspected or Genetically Confirmed VEXAS Syndrome [Time frame: At study inclusion]
  • Inflammatory Profile of Participants With Suspected or Genetically Confirmed VEXAS Syndrome [Time frame: At study inclusion]

Eligibility criteria

Inclusion criteria

  • 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.

Exclusion criteria

  • 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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

Center list to be confirmed — check the primary protocol.

Identifiers

NCT: NCT07708688 · FIND-VEXAS-01

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗