Can we break the vicious cycle of VEXAS syndrome?
NCT ID NCT07746986
First seen Aug 05, 2026 · Last updated Aug 06, 2026 · Updated 1 time
Summary
This study aims to understand how inflammation and the dominance of mutant blood cells drive VEXAS syndrome, a rare and severe autoinflammatory disease. Researchers will analyze blood and bone marrow samples from VEXAS patients and healthy controls to identify key mechanisms and potential targets for new therapies. The goal is to pave the way for treatments that can be given early in the disease, improving outcomes and life expectancy.
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 research could reveal new drug targets or repurposed therapies for VEXAS syndrome, potentially improving treatment and prognosis for this rare, severe disease.
- What could go wrong
- This is an observational study, so it won't directly test treatments. The findings may not translate into effective therapies, and the small sample size may limit generalizability.
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
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60 people
The number who actually took part.
- Started
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Jan 2021
- Finished
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May 2026
- Lead sponsor
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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
Patients aged 18 and older diagnosed with VEXAS syndrome by identification of pathogenic mutations in the UBA1 gene in hematopoietic cells isolated from peripheral blood in the presence of systemic autoinflammatory disease.
- Ages
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18 years and older
- Sex
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Male participants only
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide 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: * Patients with VEXAS syndrome: 1. Diagnosed with VEXAS syndrome by identification of pathogenic mutations in the UBA1 gene in hematopoietic cells isolated from peripheral blood in the presence of systemic autoinflammatory disease. 2. Age \>18. 3. BM and peripheral blood samples were collected between 2020 and 2026. * Healthy donors: 1. In good general health as evidenced by medical history, with no history of inflammatory or hematologic disorders. BM samples derive from subjetcs undergoing hip replacement. 2. Matched as closely as possible with VEXAS patients by age and sex. 3. Age \>18. 4. BM and peripheral blood samples were collected between 2020 and 2026. Exclusion Criteria: * Subjects not included in the previous criteria
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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IRCCS Ospedale San Raffaele
Milan, MI, 20129, Italy
More trials for these conditions
Other studies related to the condition(s) this trial covers.