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Study of Azacitidine Treatment in Patients with VEXAS Syndrome

Verified siteRegistered drugNo placebo
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What is this trial about?

A plain-language summary of the goals, design and what participants do

This clinical trial focuses on VEXAS syndrome, a rare genetic condition that causes inflammation in various parts of the body and can affect blood cell production. The study will test a medication called azacitidine, which will be given as an injection under the skin (subcutaneous injection). This medicine is typically used to treat blood disorders and works by modifying how genes function in the body.

The purpose of this research is to determine if azacitidine can reduce the amount of abnormal genetic material in patients with VEXAS syndrome. The treatment involves receiving azacitidine injections for six treatment cycles. During the study, participants will receive up to 200 milligrams of the medication per day, with a maximum total dose of 10,000 milligrams over a period of up to 10 months.

This is a Phase II study, which means researchers are testing the medication's effectiveness in a group of patients with VEXAS syndrome. The study will specifically look at how well the treatment works in reducing certain genetic changes associated with the disease. Throughout the treatment period, participants will be monitored for both the medication's effectiveness and any potential side effects.

The research process

The trial runs in 4 steps – from screening to follow-up. Each step says what happens and what the team monitors.

  1. Step 1

    Initial treatment phase

    You will receive azacitidine through subcutaneous injection (injection under the skin).

    The treatment consists of six complete cycles of medication.

    During this phase, regular monitoring of your blood values will be conducted to track changes in your condition.

  2. Step 2

    Contraception requirements

    If you are a male patient having sexual relations with women who can become pregnant, you must use barrier contraception (condoms) during the treatment period.

    Contraception must continue for three months after the last treatment.

    Female patients who can become pregnant must have negative pregnancy tests monthly during treatment.

    Female patients must use effective contraception during treatment and for three months after the last treatment.

  3. Step 3

    Monitoring phase

    Your blood will be tested to measure the levels of UBA1 mutation (a specific genetic change) in your body.

    The main goal is to check if there is a 50% reduction in these mutation levels after completing six treatment cycles.

    Your blood counts and inflammatory symptoms will be monitored throughout the treatment period.

  4. Step 4

    Treatment completion

    After completing six cycles of treatment, final assessments will be conducted to evaluate the effectiveness of the therapy.

    The study will continue monitoring patients until November 2033.

Who can join the trial?

10 criteria

  • You must have a specific genetic mutation in the UBA1 gene with a variant frequency greater than 10% (your doctor can confirm if you have one of the qualifying mutations)
  • You must have either:
    • Low blood cell counts (cytopenia) of any severity, or
    • Inflammatory symptoms of VEXAS, with or without low blood cell counts
    • You must be at least 18 years old
    • You must be able to understand and provide informed consent
    • For contraception requirements:
      • Male participants who are sexually active with women who can become pregnant must use condoms during treatment and for 3 months after
      • Female partners of male participants should use effective birth control during this time
      • Female participants who can become pregnant must:
        • Have a negative pregnancy test before starting
        • Agree to monthly pregnancy testing
        • Use effective birth control during treatment and for 3 months after

Who cannot join the trial?

15 criteria

  • Age below 18 years old
  • Pregnant or breastfeeding women
  • History of severe allergic reactions to Azacitidine (the study medication) or its components
  • Active, uncontrolled infections
  • Severe liver problems (liver enzymes more than 3 times the normal upper limit)
  • Severe kidney problems (creatinine clearance below 30 mL/min)
  • Active cancer other than VEXAS
  • Major surgery within 4 weeks before starting the study
  • Participation in another clinical trial within 30 days before this study
  • Mental conditions that prevent understanding the study requirements
  • Unstable heart disease or recent heart attack (within last 6 months)
  • Life expectancy less than 3 months
  • Bone marrow failure (severe decrease in blood cell production)
  • Unable to provide informed consent
  • History of organ transplantation
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Investigated drugs

Azacitidine is a medication used to treat certain blood conditions. It works by helping bone marrow produce normal blood cells and by killing abnormal cells that cause disease. In this trial, it is being studied as a treatment for patients with VEXAS syndrome, a rare genetic condition that affects blood cells. This medication is taken regularly to help reduce the presence of abnormal genetic variants in the blood.

What is already known about the treatment

Azacitidine – A chemotherapy medication administered through subcutaneous injection or intravenous infusion, which belongs to the class of drugs known as DNA methyltransferase inhibitors. This medication works by preventing the abnormal growth of cells by interfering with DNA production, effectively helping to correct blood cell production in the bone marrow. It is primarily used in treating VEXAS syndrome, a rare genetic blood disorder, by reducing the frequency of abnormal genetic variants in the UBA1 gene, and has shown promising results in clinical trials for this condition. The drug has been well-documented in medical literature and is also approved for treating various blood disorders and certain types of bone marrow diseases.

Investigated diseases

VEXAS syndrome - A rare genetic disorder caused by mutations in the UBA1 gene, which affects multiple body systems. The condition typically develops in adulthood and causes inflammation throughout the body, including blood cells, skin, and cartilage. Patients often experience recurring fevers, skin lesions, and joint pain. The syndrome can affect blood cell production in the bone marrow, leading to various blood abnormalities. The condition is characterized by the presence of vacuoles (small cavities) in certain blood cells.
Trial detailsLast updated 7 Oct 2026
Age18+ yearsPhasePhase IITrial ID2024-510715-30-00Estimated enrolment50 patientsSponsorRegion Hovedstaden

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