Vexas SyndromeFIND-VEXASNCT07708688
Clinical Phenotype and Prevalence of VEXAS Syndrome in Internal Medicine
An observational study of Vexas Syndrome, run by Centre Hospitalier Universitaire Vaudois.
Trial 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… Read more about this study
- Who is it for?
- Ages 50 years and older
- Conditions the study is for
- Vexas Syndrome
- What is being tested?
- UBA1 Genetic Testing
- How many people
- 50 participants
- Where
- No sites listed yet
- Study dates
- Jul 2026to Jun 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 50 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
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.
Who may be able to join
- 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;
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- 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.
Who cannot join
- 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.
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
About this study
Official title: 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.
Read more
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.
Read the 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.
- Conditions
- Vexas Syndrome
- Being tested
- UBA1 Genetic Testing
- Keywords
- VEXAS Syndrome, UBA1 Mutation, Systemic Inflammation, Prevalence, incidence
- Medical subject headings
- VEXAS syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
UBA1 Genetic TestingDiagnostic test
Also called Molecular confirmation of VEXAS syndrome
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.
| Study group | Role | What they receive |
|---|---|---|
| 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 Receives: Diagnostic Test: UBA1 Genetic Testing |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Through study completion, up to 24 months
Secondary outcomes (3)
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.
Measured: At study inclusion
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.
Measured: At study inclusion
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.
Measured: At study inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Jul 2026
- Study startJul 2026 (estimated)
- Primary completionJun 2028 (estimated)
- Study completionJun 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Vexas SyndromeStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire VaudoisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire Vaudois
- Sponsor type
- University, hospital or other
- Collaborators
- IRCCS Burlo Garofolo, FADOI-Friuli Venezia Giulia Network)
- Responsible party
- Principal investigator, Giacomo Emmi, Centre Hospitalier Universitaire Vaudois
- Investigators
- Giacomo Emmi, MD, PhD, Principal investigator, CHUV Service d'immunologie et allergie, Lausanne, SwitzerlandFrancesco Zaja, Study chair, University of TriesteFabio Fiammengo, Study chair, FADOI-Friuli Venezia Giulia Network)Alberto Tommasini, Study chair, IRCCS Burlo GarofoloMaria Letizia Urban, Study chair, University of Trieste
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07708688
- Sponsor's protocol ID
- FIND-VEXAS-01
- Acronym
- FIND-VEXAS
- Status last verified
- Jul 2026
- First submitted
- 13 Jul 2026
- Last updated
- 16 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: 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).
Study at a glance
From the registry record, last updated by the sponsor on 16 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- FIND-VEXAS Project (Friuli Internal Medicine Network for Detection of VEXAS Syndrome): Clinical Phenotype and Prevalence of VEXAS Syndrome in Internal Medicine
- ClinicalTrials.gov ID
- NCT07708688
- Acronym / sponsor ID
- FIND-VEXAS / FIND-VEXAS-01
- Conditions
- Vexas Syndrome
- Keywords
- VEXAS Syndrome, UBA1 Mutation, Systemic Inflammation, Prevalence, incidence
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire VaudoisUniversity, hospital or other
- Collaborators
- IRCCS Burlo Garofolo, FADOI-Friuli Venezia Giulia Network)
- Study start
- Jul 2026 (estimated)
- Primary completion
- Jun 2028 (estimated)
- Study completion
- Jun 2028 (estimated)
- First posted
- 16 Jul 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients With Suspected VEXAS Syndrome | – | Diagnostic Test: UBA1 Genetic TestingAdults 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 |
Who may qualify
- Ages
- 50 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (11 listed)
- 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;
Key exclusion criteria (5 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| UBA1 Genetic TestingAlso: Molecular confirmation of VEXAS syndromeBlood 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. | Diagnostic test | Patients With Suspected VEXAS Syndrome |
Primary outcome
Prevalence of Genetically Confirmed VEXAS Syndrome
Time frame: 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.
3 secondary outcomes
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Jul 2026.
- Individual participant dataSharing planned: No. 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).
Related trials for Vexas Syndrome
RecruitingPhase 2
A Study to Assess the Effectiveness and Safety of Pacritinib in Patients With VEXAS Syndrome (PAXIS)
VEXAS, VEXAS Syndrome
RecruitingPhase 2
A Phase II Study of Allogeneic Hematopoietic Stem Cell Transplant for Subjects With VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) Syndrome
Immunodeficiency, Hematopoietic Stem Cell Transplantation
Enrolling by invitationObservational study
Molecular and Clinical Analysis of Bone Marrow Failure: A Secondary Research Study
Bone Marrow Failure Disorders, VEXAS Syndrome
RecruitingPhase 2
A 52-Week Study Evaluating the Efficacy and Safety of Arumakimig (MAS825) in Participants With VEXAS Followed by Open-Label Extension (OLE) Period
VEXAS Syndrome
RecruitingPhase 2
Momelotinib in VEXAS Syndrome
VEXAS Syndome, Myelo Dysplastic Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Giacomo Emmi, MD, PhD principal investigator
CHUV Service d'immunologie et allergie, Lausanne, Switzerland
Francesco Zaja study chair
University of Trieste
Fabio Fiammengo study chair
FADOI-Friuli Venezia Giulia Network)
Questions about this trial
What is this clinical trial studying?
An observational study of Vexas Syndrome, run by Centre Hospitalier Universitaire Vaudois.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 16 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Giacomo Emmi, MD, PhD (+393286852815, giacomo.emmi@chuv.ch), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of Genetically Confirmed VEXAS Syndrome (time frame: Through study completion, up to 24 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Jul 2026.