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NCT06004349

Autoimmune and Autoinflammatory Genetics Study

Recruiting now Last updated 9 July 2025
What this trial tests

trial in VEXAS Syndome in 1,500 participants. Currently enrolling.

Timeline
15 April 2022
Primary endpoint
5 April 2032
5 April 2032

Quick facts

Lead sponsorNYU Langone Health
StatusRecruiting now
Study typeOBSERVATIONAL
Enrollment1,500
Start date15 April 2022
Primary completion5 April 2032
Estimated completion5 April 2032
Sites2 locations across United States

Conditions studied

Sponsor

NYU Langone Health — full company profile →

Who can join

1 Month and older, any sex, with VEXAS Syndome or Autoinflammatory Disease. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

This is an exploratory natural history protocol that will enroll patients with known genetic diseases, such as VEXAS syndrome, or as yet undiagnosed disorders of inflammation with the goal of improving our understanding of disease processes. Blood, saliva, hair, nail, or buccal samples may be collected for genetic analysis, blood samples will be obtained for immunologic and other functional studies, and a small number of subjects may undergo skin biopsy.

Publications & conference data

3 peer-reviewed publications reference this trial (live from Europe PMC):

  1. Shared and distinct mechanisms of UBA1 inactivation across different diseases.
    Collins JC, Magaziner SJ, English M, Hassan B, et al · · 2024 · cited 37× · PMID 38360993 · DOI 10.1038/s44318-024-00046-z
  2. Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome.
    Ospina Cardona D, Rodriguez-Pinto I, Iosim S, Bonet N, et al · · 2024 · cited 3× · PMID 38552317 · DOI 10.1093/rheumatology/keae201
  3. Cell autonomous inflammation in VEXAS is mediated by cGAS-STING
    · 2026

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