Targeting UBA1‑mutated blood stem cells in VEXAS syndrome
Defining targetable vulnerabilities in UBA1-mutated VEXAS HSCs for clonal eradication
['FUNDING_R01'] · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · NIH-11325469
This work looks for ways to find and remove the UBA1‑mutated blood stem cells that drive VEXAS in people with the condition.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | NEW YORK UNIVERSITY SCHOOL OF MEDICINE (nih funded) |
| Locations | 1 site (NEW YORK, UNITED STATES) |
| Trial ID | NIH-11325469 on ClinicalTrials.gov |
What this research studies
Researchers will collect bone marrow and blood from people with VEXAS and use genotype‑aware single‑cell multi‑omics to map which cells carry the UBA1 mutation and how those cells behave. By comparing mutant cells directly to nearby normal cells in the same sample, the team will look for molecular weaknesses unique to the mutant stem cells. Those candidate vulnerabilities will be tested in laboratory models to see which approaches kill or disable the mutant clones. The long view is to identify targets that could lead to therapies that remove the disease‑causing stem cells.
Who could benefit from this research
Good fit: Ideal candidates are adults diagnosed with VEXAS who have a confirmed somatic UBA1 mutation and are willing to provide blood and bone marrow samples.
Not a fit: People without a UBA1 mutation, with different inflammatory diseases, or who cannot or will not undergo bone marrow sampling are unlikely to benefit from this project.
Why it matters
Potential benefit: If successful, this work could lead to targeted therapies that eliminate the mutant stem cells and reduce the inflammation and symptoms of VEXAS.
How similar studies have performed: Genotype‑aware single‑cell methods have produced promising proof‑of‑principle data, but clinical approaches to eradicate UBA1‑mutant stem cells are not yet established.
Where this research is happening
NEW YORK, UNITED STATES
- NEW YORK UNIVERSITY SCHOOL OF MEDICINE — NEW YORK, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: BECK, DAVID — NEW YORK UNIVERSITY SCHOOL OF MEDICINE
- Study coordinator: BECK, DAVID
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Conditions: Blood Diseases