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Clinical Phenotype and Prevalence of VEXAS Syndrome in Internal Medicine (FIND-VEXAS)

13 luglio 2026 aggiornato da: Giacomo Emmi, Centre Hospitalier Universitaire Vaudois

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

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.

Panoramica dello studio

Stato

Non ancora reclutamento

Condizioni

Intervento / Trattamento

Descrizione dettagliata

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.

Tipo di studio

Osservativo

Iscrizione (Stimato)

50

Contatti e Sedi

Questa sezione fornisce i recapiti di coloro che conducono lo studio e informazioni su dove viene condotto lo studio.

Contatto studio

Backup dei contatti dello studio

Criteri di partecipazione

I ricercatori cercano persone che corrispondano a una certa descrizione, chiamata criteri di ammissibilità. Alcuni esempi di questi criteri sono le condizioni generali di salute di una persona o trattamenti precedenti.

Criteri di ammissibilità

Età idonea allo studio

  • Adulto
  • Adulto più anziano

Accetta volontari sani

No

Metodo di campionamento

Campione non probabilistico

Popolazione di studio

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.

Descrizione

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.

Piano di studio

Questa sezione fornisce i dettagli del piano di studio, compreso il modo in cui lo studio è progettato e ciò che lo studio sta misurando.

Come è strutturato lo studio?

Dettagli di progettazione

Coorti e interventi

Gruppo / Coorte
Intervento / Trattamento
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
Test diagnostico: 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.
Altri nomi:
  • Molecular confirmation of VEXAS syndrome

Cosa sta misurando lo studio?

Misure di risultato primarie

Misura del risultato
Misura Descrizione
Lasso di tempo
Prevalence of Genetically Confirmed VEXAS Syndrome
Lasso di tempo: Through study completion, up to 24 months
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

Misure di risultato secondarie

Misura del risultato
Misura Descrizione
Lasso di tempo
Clinical Characteristics of Participants With Suspected or Genetically Confirmed VEXAS Syndrome
Lasso di tempo: At study inclusion
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.
At study inclusion
Hematologic Characteristics of Participants With Suspected or Genetically Confirmed VEXAS Syndrome
Lasso di tempo: At study inclusion
Frequency and distribution of hematologic abnormalities, including macrocytic anemia, thrombocytopenia, other cytopenias, and associated hematologic disorders such as myelodysplastic syndrome.
At study inclusion
Inflammatory Profile of Participants With Suspected or Genetically Confirmed VEXAS Syndrome
Lasso di tempo: At study inclusion
Description of inflammatory laboratory findings, including C-reactive protein and erythrocyte sedimentation rate values, in participants with suspected or genetically confirmed VEXAS syndrome.
At study inclusion

Collaboratori e investigatori

Qui è dove troverai le persone e le organizzazioni coinvolte in questo studio.

Sponsor

Centre Hospitalier Universitaire Vaudois

Collaboratori

IRCCS Burlo Garofolo
FADOI-Friuli Venezia Giulia Network)

Investigatori

  • Investigatore principale: Giacomo Emmi, MD, PhD, CHUV Service d'immunologie et allergie, Lausanne, Switzerland
  • Cattedra di studio: Francesco Zaja, University of Trieste
  • Cattedra di studio: Fabio Fiammengo, FADOI-Friuli Venezia Giulia Network)
  • Cattedra di studio: Alberto Tommasini, IRCCS Burlo Garofolo
  • Cattedra di studio: Maria Letizia Urban, University of Trieste

Studiare le date dei record

Queste date tengono traccia dell'avanzamento della registrazione dello studio e dell'invio dei risultati di sintesi a ClinicalTrials.gov. I record degli studi e i risultati riportati vengono esaminati dalla National Library of Medicine (NLM) per assicurarsi che soddisfino specifici standard di controllo della qualità prima di essere pubblicati sul sito Web pubblico.

Studia le date principali

Inizio studio (Stimato)

1 luglio 2026

Completamento primario (Stimato)

1 giugno 2028

Completamento dello studio (Stimato)

1 giugno 2028

Date di iscrizione allo studio

Primo inviato

13 luglio 2026

Primo inviato che soddisfa i criteri di controllo qualità

13 luglio 2026

Primo Inserito (Effettivo)

16 luglio 2026

Aggiornamenti dei record di studio

Ultimo aggiornamento pubblicato (Effettivo)

16 luglio 2026

Ultimo aggiornamento inviato che soddisfa i criteri QC

13 luglio 2026

Ultimo verificato

1 luglio 2026

Maggiori informazioni

Termini relativi a questo studio

Parole chiave

Termini MeSH pertinenti aggiuntivi

Altri numeri di identificazione dello studio

  • FIND-VEXAS-01

Piano per i dati dei singoli partecipanti (IPD)

Hai intenzione di condividere i dati dei singoli partecipanti (IPD)?

NO

Descrizione del piano IPD

Pseudonymized individual participant data will not be shared with external researchers or third parties. Access to the data will be restricted to authorized investigators involved in the study and to the study personnel responsible for data management and statistical analysis. Data will be processed in accordance with the approved study protocol, the informed consent provisions, and the General Data Protection Regulation (GDPR).

Informazioni su farmaci e dispositivi, documenti di studio

Studia un prodotto farmaceutico regolamentato dalla FDA degli Stati Uniti

No

Studia un dispositivo regolamentato dalla FDA degli Stati Uniti

No

Queste informazioni sono state recuperate direttamente dal sito web clinicaltrials.gov senza alcuna modifica. In caso di richieste di modifica, rimozione o aggiornamento dei dettagli dello studio, contattare register@clinicaltrials.gov. Non appena verrà implementata una modifica su clinicaltrials.gov, questa verrà aggiornata automaticamente anche sul nostro sito web .

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