Actively Recruiting
Autoimmune and Autoinflammatory Genetics Study
Led by NYU Langone Health · Updated on 2025-07-09
1500
Participants Needed
2
Research Sites
520 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Autoimmune and Autoinflammatory Genetics Study
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Willingness to participate in study procedures, including providing a mail-in blood or saliva sample for genetic analysis
- At least 1 month old regardless of sex assigned at birth
- Medical history consistent with possible autoinflammatory disease or known diagnosis such as VEXAS syndrome (for subjects with autoinflammatory disease)
- Ability to understand and willingness to sign informed consent (or by parent/legal representative for children)
- For family members: related by blood or marriage to an enrolled or soon-to-be-enrolled individual with known or suspected autoinflammatory disease
- Likelihood that sample analysis will advance genetic or functional study of affected relative's condition (for family members)
- For healthy volunteers: at least 5 years old, not pregnant, willing to participate in procedures
- Likelihood that sample will advance functional analysis of studied autoinflammatory condition (for healthy volunteers)
- Ability to understand and willingness to sign informed consent (for healthy volunteers)
You will not qualify if you...
- Probands with low suspicion of autoinflammatory disease or genetic cause will not be enrolled
- Family members suspected to have autoinflammatory disease will be enrolled as probands instead
- Healthy controls with autoinflammatory disease or conditions mimicking it, such as blood cancers or rheumatologic diseases, will be excluded
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 2 locations
1
NYC H+H/Bellevue
New York, New York, United States, 10016
Actively Recruiting
2
NYU Langone Health
New York, New York, United States, 10016
Actively Recruiting
Research Team
D
David Beck, MD, PhD
CONTACT
M
Mei-Kay Wong, MS, MPH, CGC, CPH
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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