VEXAS syndrome
MONDO:0026777An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death.
Also known as: VEXAS, VEXAS syndrome, somatic, vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome
53 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
-
Could a stem cell transplant tame VEXAS syndrome?
Disease control Recruiting nowThis study tests whether a stem cell transplant from a donor can help people with VEXAS syndrome, a rare autoinflammatory disease. Participants receive donor stem cells after drugs to prepare their bone marrow. The goal is to see if the transplant can reverse symptoms and allow p…
Phase: PHASE2 • Sponsor: National Cancer Institute (NCI) • Aim: Disease control
Last updated Jun 27, 2026 12:30 UTC
-
New hope for rare inflammatory disease: pacritinib trial begins
Disease control Recruiting nowThis study tests a drug called pacritinib for people with VEXAS syndrome, a rare genetic disease that causes severe inflammation. About 78 adults will receive either the drug or a placebo to see if it controls symptoms and reduces flare-ups. The goal is to find a safe and effecti…
Phase: PHASE2 • Sponsor: Swedish Orphan Biovitrum • Aim: Disease control
Last updated Jun 27, 2026 12:23 UTC
-
New drug hope for rare inflammatory VEXAS syndrome
Disease control Recruiting nowThis phase 2 trial tests the drug momelotinib in 57 people with VEXAS syndrome, a rare inflammatory condition that may also involve a bone marrow disorder called MDS. Participants receive momelotinib daily, and doctors check if symptoms improve and if steroid doses can be lowered…
Phase: PHASE2 • Sponsor: Groupe Francophone des Myelodysplasies • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
-
New TB skin test could spare rheumatoid patients from hidden infection
Diagnosis Recruiting nowThis study tests a new skin test (C-TST) to find hidden tuberculosis (TB) infection in people with rheumatic diseases like rheumatoid arthritis who are about to start powerful medications called biologics. These drugs can reactivate dormant TB, so accurate screening is critical. …
Sponsor: Chinese University of Hong Kong • Aim: Diagnosis
Last updated Jun 26, 2026 16:06 UTC
-
Can the shingles vaccine protect those with autoimmune conditions?
Prevention Recruiting nowThis study is testing whether the shingles vaccine (RZV) works and is safe for adults with autoimmune rheumatic diseases like rheumatoid arthritis or lupus who are taking immune-suppressing drugs. Two hundred participants will receive two doses of the vaccine. Researchers will me…
Phase: PHASE4 • Sponsor: University of Sao Paulo General Hospital • Aim: Prevention
Last updated Jun 27, 2026 11:01 UTC
-
Shingles vaccine put to the test in frail patients
Prevention Recruiting nowThis study looks at how well the shingles vaccine works in people with weakened immune systems, such as those with cancer or autoimmune diseases. Researchers will measure immune responses and track side effects in 300 adults. The goal is to see if the vaccine can effectively prev…
Sponsor: Fondazione IRCCS Policlinico San Matteo di Pavia • Aim: Prevention
Last updated Jun 27, 2026 09:11 UTC
-
20,000 volunteers needed to decode immune disease genetics
Knowledge-focused Recruiting nowThis study will analyze DNA from up to 20,000 people, including those with immune disorders and their relatives, to find genetic variants linked to conditions like atopy, autoimmunity, and primary immunodeficiency. Researchers will also study how best to return genetic results to…
Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) • Aim: Knowledge-focused
Last updated Jul 03, 2026 23:00 UTC
-
Scientists seek genetic clues to mysterious fever diseases
Knowledge-focused Recruiting nowThis study aims to learn more about the genetics and natural history of autoinflammatory diseases, which cause repeated fevers and inflammation. Researchers will study up to 5,000 people, including patients, their relatives, and healthy volunteers. Participants provide blood and …
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jul 03, 2026 23:00 UTC
-
NIH launches major study to uncover why rheumatic diseases hit minorities harder
Knowledge-focused Recruiting nowThis study aims to learn more about the causes of rheumatic diseases—conditions that cause joint pain, stiffness, and swelling—and why they often affect minority groups more severely. Researchers will observe up to 7,500 adults with known or suspected rheumatic disease, providing…
Sponsor: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:03 UTC
-
New study aims to crack Tough-to-Diagnose joint diseases
Knowledge-focused Recruiting nowThis study is collecting joint fluid and tissue samples from 50 adults with inflammatory or non-inflammatory bone and joint diseases. Researchers will use both standard and advanced lab techniques to find new biomarkers that could help diagnose rheumatic diseases more accurately …
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:02 UTC
-
Massive study tracks lung disease progression in 4,000 patients
Knowledge-focused Recruiting nowThis study follows 4,000 people with interstitial lung disease (including conditions like pulmonary fibrosis and sarcoidosis) to understand how the disease naturally changes over time. Researchers will collect medical data and blood samples, and compare them to a healthy control …
Sponsor: University of Chicago • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:05 UTC
-
NIH launches major study to unlock secrets of rare inflammatory diseases
Knowledge-focused Recruiting nowThis study follows up to 5,000 people with autoinflammatory diseases (like NOMID, CANDLE, and juvenile dermatomyositis) and their healthy relatives. Researchers will collect medical history, blood samples, and imaging over 2-5 day visits to learn how these diseases work and find …
Sponsor: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:02 UTC
-
New study aims to unlock secrets of rare inflammatory diseases
Knowledge-focused Recruiting nowThis study is looking at 50 children and adults with rare autoinflammatory diseases—conditions where the immune system causes inflammation without a clear reason. Researchers want to find what leads to a faster diagnosis, what factors are linked to these diseases, and which treat…
Sponsor: Hospices Civils de Lyon • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:00 UTC
-
New registry aims to unlock secrets of rare VEXAS syndrome
Knowledge-focused Recruiting nowThis study is building a national registry of 500 adults with VEXAS syndrome, a rare inflammatory disease. Researchers will collect medical information and biological samples during routine care to learn more about how the disease behaves, what treatments work best, and how to di…
Sponsor: Technische Universität Dresden • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:32 UTC
-
Can better transition programs keep young rheumatic patients healthy?
Knowledge-focused Recruiting nowThis study looks at young adults with chronic inflammatory rheumatic diseases who are moving from pediatric to adult healthcare. Researchers want to see if a structured program that includes education workshops and joint doctor visits helps patients manage their own care better. …
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:23 UTC
-
Scientists launch hunt for clues in autoimmune skin diseases
Knowledge-focused Recruiting nowThis study aims to create a large collection of blood samples and medical information from 800 people with autoimmune or inflammatory skin diseases. Researchers will use these samples to find new biomarkers and better understand what causes these conditions. The goal is to help d…
Sponsor: University Hospital, Toulouse • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:03 UTC
-
Scientists hunt for hidden genes behind mysterious fevers
Knowledge-focused Recruiting nowThis study is looking for new genes and biological markers that cause systemic autoinflammatory diseases (SAIDs), a group of rare conditions that cause repeated fevers and inflammation. Researchers will analyze the DNA and blood of 300 patients to find disease-causing mutations a…
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:11 UTC
-
New study uses DNA tests to catch blood cancers before they start
Knowledge-focused Recruiting nowThis study is looking at 2,000 people who have early warning signs of blood cancers or bone marrow failure. Researchers use a special genetic test (next generation sequencing) to find changes in cancer-related genes. The goal is to better understand who is at risk and to catch th…
Phase: NA • Sponsor: Mayo Clinic • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:07 UTC
-
New tool to measure steroid impact on Kids' lives
Knowledge-focused Recruiting nowThis study is developing a patient-reported outcome measure (PROM) to assess how steroids affect the quality of life of children and young people with rheumatic conditions. Researchers will hold focus groups and interviews with 70 participants and their families to create and tes…
Sponsor: University of the West of England • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:12 UTC
-
Ultrasound technique may reduce surgery complications
Knowledge-focused Recruiting nowThis study is testing whether a special ultrasound technique called VExUS can help doctors manage fluids better during chest surgery. The goal is to see if it lowers the chance of lung and kidney problems after surgery. About 230 adults having video-assisted lung surgery will tak…
Phase: NA • Sponsor: University of Crete • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 UTC
-
Patients' voices heard: new survey aims to reveal true burden of rheumatic diseases
Knowledge-focused Recruiting nowThis study is an online survey for 1,000 adults diagnosed with a rheumatic or musculoskeletal disease living in a EULAR country. Participants will answer periodic questionnaires about their healthcare, social life, and work. The goal is to gather real-world data to help researche…
Sponsor: European Alliance of Associations in Rheumatology • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:58 UTC
-
Massive registry launched to track Kids' rheumatic disease treatments
Knowledge-focused Recruiting nowThis observational study follows up to 20,000 children and young adults with pediatric-onset rheumatic diseases, such as juvenile idiopathic arthritis. Researchers collect data on treatments, safety, and long-term outcomes to better understand these conditions. The registry does …
Sponsor: Duke University • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:54 UTC
-
Can a CT scan spot hidden lung damage in rheumatoid arthritis?
Knowledge-focused Recruiting nowThis study will examine chest CT scans from 500 adults with rheumatoid arthritis, connective tissue diseases, or idiopathic pulmonary fibrosis to better understand lung disease patterns. Researchers want to see which scan features are most common in rheumatoid arthritis-related i…
Sponsor: Azienda Unita Sanitaria Locale di Piacenza • Aim: Knowledge-focused
Last updated Jun 26, 2026 17:11 UTC
-
Scientists investigate mysterious genetic variants behind rare inflammatory diseases
Knowledge-focused Recruiting nowThis study looks at people with autoinflammatory diseases or AA amyloidosis who have genetic changes that are hard to interpret. Researchers want to understand if these changes actually cause the disease. The goal is to improve diagnosis and knowledge, not to test a new treatment…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 26, 2026 12:47 UTC