Autoimmune and Autoinflammatory Genetics Study

Part of paid clinical trials in New York, New York.

Sponsor
NYU Langone Health
Study ID
NCT06004349
Status
Recruiting

Conditions

  • Autoimmune Disease
  • Autoinflammatory Disease
  • Rheumatic Disease
  • VEXAS Syndome

Eligibility Criteria

Sex
ALL
Age
1 Month - N/A
Healthy Volunteers
Accepted

Study Details

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.

Key Dates

Start date
Apr 15, 2022
Status verified
Jul 2025
Primary completion
Apr 5, 2032
Completion
Apr 5, 2032

Study Design

Enrollment
1,500 participants (estimated)

Arms

  • Arm: Participants with known or suspected autoinflammatory diseases
    Participants with known or suspected autoinflammatory diseases (i.e., Probands)
  • Arm: Family member
    Family member, either by blood or marriage, to an individual enrolled or about to be enrolled in the study with known or suspected autoinflammatory disease.
  • Arm: Healthy control

Primary Outcome Measure

Number of newly discovered rare, high penetrance germline variants that cause human inflammatory disease [ Time Frame: Study End (Up to Year 5) ]

Central Contacts

Locations (2)

FacilityCityStateZIPSite coordinators
NYC H+H/BellevueNew YorkNew York10016-
NYU Langone HealthNew YorkNew York10016-

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