Actively Recruiting

Age: 1Month +
All Genders
Healthy Volunteers
NCT06004349

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

Age: 1Month +
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

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)
Not Eligible

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

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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

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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