Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
David B Beck, Dale L Bodian, Vandan Shah...
https://pubmed.ncbi.nlm.nih.gov/36692560Actively Recruiting
Age: 1Month +
All Genders
Healthy Volunteers
ID06004349
Natural History and Genetics of VEXAS Syndrome and Related Autoinflammatory Syndromes
Led by NYU Langone Health · Updated on 2025-07-09
1500
Participants Needed
2
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are investigating genetic factors that may contribute to human disorders of inflammation, including conditions like VEXAS syndrome and other autoinflammatory diseases. This exploratory natural history study aims to better understand these diseases by identifying genetic causes, examining immune system features, and describing clinical characteristics through medical record review. Participants include those with known or suspected autoinflammatory diseases, their family members, and healthy volunteers. Samples such as blood, saliva, hair, nails, or cheek swabs may be collected for genetic and immunologic studies. Some participants might also undergo skin biopsies. The study is observational and involves no treatment interventions. During the study, researchers will collect biological samples and review medical histories to discover genetic variants linked to inflammatory diseases. The main outcomes measured are the numbers of newly identified genetic changes that may cause or increase susceptibility to these disorders. Participation involves providing samples, consenting to medical record review, and may include follow-up over several years to monitor findings.
CONDITIONS
Brief Title
Autoimmune and Autoinflammatory Genetics Study
Who Can Participate
Age: 1Month +
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Willing to participate in study procedures, including providing a blood or saliva sample for genetic analysis
- At least one month old, regardless of sex
- Medical history consistent with possible autoinflammatory disease or diagnosed with an autoinflammatory disease such as VEXAS syndrome (for probands)
- Able to understand and willing to sign informed consent
- Related by blood or marriage to someone enrolled or about to be enrolled with known or suspected autoinflammatory disease (for family members)
- Likely to provide useful genetic or functional information for study (for family members)
- For healthy volunteers: at least five years old, not pregnant, willing to participate, and able to consent
You will not qualify if you...
- Low suspicion of autoinflammatory disease or genetic cause (probands)
- Possible autoinflammatory disease present in family members, who will be enrolled as probands instead
- Presence of autoinflammatory disease or similar conditions like blood cancers or rheumatologic diseases in healthy controls
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Diagnostic Evaluation
Duration - Up to 5 years
Participants provide blood or saliva samples for genetic analysis and undergo evaluation to understand their inflammatory disease.
1 to 2 visits depending on participant group
Long-term Monitoring
Duration - Up to 5 years
Participants are observed over time to study genetic and clinical features of autoinflammatory diseases including VEXAS syndrome.
Follow-up visits as needed during study period
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
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Research Team
D
David Beck, MD, PhD
M
Mei-Kay Wong, MS, MPH, CGC, CPH
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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Published Research Related To This Trial
Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis.
Marcela A Ferrada, Sinisa Savic, Daniela Ospina Cardona...
https://pubmed.ncbi.nlm.nih.gov/35793467