Back to search results

Phase II Study of Stem Cell Transplant for VEXAS Syndrome

This study is looking at whether an allogeneic hematopoietic stem cell transplant (a procedure where you receive healthy blood stem cells from a donor) can help people with VEXAS syndrome. Researchers want to see if this transplant can be done safely and if it can improve the disease. You might be eligible if you are between 18 and 75 years old, have VEXAS syndrome that has caused significant health problems, and standard treatments haven't worked or aren't available. The study will use several medications, including Busulfan, Mycophenolate mofetil (MMF), and Tacrolimus, along with the stem cell transplant. Success will be measured by whether your VEXAS symptoms improve and if the donor cells are successfully accepted by your body.

Study design
This is an interventional study planning to enroll 54 participants. The phase is not specified, and the current status is unclear.
What's involved
You would undergo a screening process including a physical exam, medical review, blood and urine tests, heart and lung function tests, bone marrow biopsy, and a chest x-ray.
Compensation
Not stated in the trial record.
Follow-up
Your progress will be monitored for reversal of VEXAS symptoms at 1 and 2 years after the transplant, and for sustained donor cell engraftment at 100 days and 1 year after the transplant.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT05027945

A Phase II Study of Allogeneic Hematopoietic Stem Cell Transplant for Subjects With VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) Syndrome

Recruiting
PHASE2Ages 18–75InterventionalTreatment
National Cancer Institute (NCI)
~54 participants
Updated 2026-07-10 on ClinicalTrials.gov
What's tested:Allogeneic HSCTBusulfan test doseMycophenolate mofetil (MMF)TacrolimusBusulfanTotal Body Irradiation (TBI)

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Reversal of clinical phenotype of VEXAS
Measured over +1 and +2 years post HSCT
+1 more outcome measured

Conditions

Immunodeficiency
Hematopoietic Stem Cell Transplantation

Explore related trials

Myelodysplastic SyndromeVEXAS SyndromeUbiquitin-Like Modifier-Activating Enzyme 1

Where it's being run

1 sites across 1 states
Maryland1

Study leadership

  • Bhavisha A Patel, M.D. · PRINCIPAL_INVESTIGATOR · National Cancer Institute (NCI)

Who to contact

Bhavisha A Patel, M.D.
[email protected]
(301) 402-3477
Email the study team

Opens a ready-to-send draft in your own email app — review before sending.

Do you actually qualify for this trial?

Add a private profile and we'll compare every criterion below against your situation — and tell you which ones are met, uncertain, or excluding.

Check eligibility for this trial ~2 min · HIPAA-protected · delete anytime
Eligibility criteria

Inclusion

Age \>= 18-year-old and \<= 75-year-old
Availability of an 8/8 or 7/8 HLA-matched related or unrelated donor, or a haploidentical related donor
Karnofsky performance status of \>= 40%
Adequate end-organ function, defined as follow:
Pulmonary function tests: FEV1 and DLCO \>30%
Ability of subject to understand and the willingness to sign a written informed consent document.
As therapeutic agents used in this trial may be harmful to a fetus, individuals of childbearing potential and men must agree to use adequate contraception (hormonal or barrier method of birth control; abstinence) at the study entry and for at least one-year post-allo HCT. Should an individual become pregnant or suspect they are pregnant while she or her partner is participating in the study, she should inform her treating physician immediately.
Willingness to remain in the NIH hospital or, if discharged, live within 2 hours drive from the NIH, for a minimum of 100 days after transplant or longer, if there are complications. If outpatient in the first 100 days after transplant, participant must commit to having an adult caregiver with them at all times.
Somatic mutation in UBA1 performed by a CLIA or CAP certified laboratory. NOTE: Participants without a mutation or unknown mutation status may be eligible if they have a clinical history that is characteristic of an individual with VEXAS syndrome including two or more of a-e below.
Inflammatory clinical phenotype for VEXAS syndrome with at least one VEXAS disease manifestation below:
Presence of cytopenia defined as at least one of the following:
Participants who have failed standard medical management (requiring \>= 0.5mg/kg per day of prednisone for the above listed inflammatory condition or intolerance or refractory to use of corticosteroids and/or steroid sparing medications as well as biological response modifiers over the last 6 months), or when no standard medical treatment is available.
Participants with multiple myeloma. Note: participants with low risk smoldering multiple myeloma or monoclonal gammopathy of unknown significance will not be excluded)
Participants who are receiving any other investigational agents within the last 30 days before treatment initiation.
HIV-positive patients are ineligible because these patients are at increased risk of lethal infections when treated with marrow-suppressive therapy.
History of allergic reactions attributed to compounds of similar chemical or biologic composition to agents (steroids, cyclophosphamide, busulfan, tacrolimus, MMF, filgrastim or filgrastim biosimilar) used in the study.
Pregnant individuals are excluded from this study because the study agents have the potential for teratogenic or abortifacient effects. Because there is an unknown but potential risk for adverse events in nursing infants secondary to treatment of the mother with the study agents, breastfeeding should be discontinued if the mother is treated with the study agents.
Uncontrolled intercurrent illness or social situations (as determined by a licensed master social worker) that would limit compliance with study requirements.
Presence of active uncontrolled infections that in the opinion of the PI would make it unsafe to proceed with transplantation.
Active psychiatric disorder which is deemed by the PI to have significant risk of compromising compliance with the transplant protocol.

What this trial measures

  • Reversal of clinical phenotype of VEXAS+1 and +2 years post HSCT

    fraction of subjects who achieve complete clinical response without use of additional glucocorticoid therapy and without steroid-sparing therapy

  • Sustained donor engraftmentday +100 and +1 year post HSCT

    defined as neutrophil recovery with ANC = 500/mm\^3 for 3 consecutive days associated with \> 50% T-cell and myeloid cell donor chimerism at day 100 and one year post-HSCT