Hidden genetic syndrome may explain mysterious inflammation in older adults

NCT ID NCT07708688

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First seen Jul 16, 2026 · Last updated Jul 17, 2026 · Updated 1 time

Summary

This study looks for VEXAS syndrome, a recently discovered genetic condition, in adults over 50 who are hospitalized with unexplained fever, inflammation, or blood abnormalities. Researchers will screen participants using clinical exams and genetic testing of the UBA1 gene. The goal is to find out how common VEXAS syndrome is in this group and describe its symptoms.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this study could reveal how many older adults with unexplained inflammation actually have VEXAS syndrome, leading to better diagnosis and awareness.
What could go wrong
This is a small observational study in one region of Italy, so findings may not apply to other populations. It only estimates prevalence and does not test any treatment.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 50 people

The number the study aims to enrol. It can still change while the study runs.

Expected to start

Jul 2026

An estimate. Start dates often move.

Expected to finish

Jun 2028

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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.

Ages

50 years and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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.

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Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

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