What is this study trying to find out about autoinflammatory diseases?

This study aims to discover genetic causes and immune system features of autoinflammatory and autoimmune diseases, including VEXAS syndrome. Researchers want to better understand these conditions by analyzing genetic and clinical data. The study is sponsored by NYU Langone Health and involves collecting biological samples and medical information from participants.

Who may be eligible for this autoinflammatory disease clinical trial?

People of any sex who are at least one month old with a known or suspected autoinflammatory disease may be eligible. Family members of affected individuals and healthy volunteers aged five years or older who are not pregnant may also qualify. Participants must be willing to provide samples and sign informed consent. Please review eligibility criteria for more details.

Is there any cost to participate in this autoinflammatory disease clinical trial?

Study-related care, including all study procedures and sample collection, is provided at no cost. However, personal travel or other expenses may vary and are not guaranteed to be covered. Participants should plan accordingly for any costs associated with their involvement.

Actively Recruiting

Age: 1Month +

All Genders

Healthy Volunteers

ID06004349

Study of Genetics and Natural History in VEXAS Syndrome and Related Autoinflammatory and Autoimmune Diseases

Led by NYU Langone Health · Updated on 2026-07-08

1500

Participants Needed

Research Sites

N/A

Total Duration

AI-Summary

What this Trial Is About

Researchers are exploring the natural history and genetics of autoinflammatory and autoimmune diseases, including VEXAS syndrome and related disorders. This study aims to discover genetic factors contributing to these inflammatory conditions and to enhance understanding of their immune system mechanisms. It also seeks to describe clinical features of poorly characterized diseases through chart reviews of routine medical care. Participants include individuals with known or suspected autoinflammatory diseases, family members related by blood or marriage, and healthy volunteers. Samples such as blood, saliva, hair, nails, or buccal swabs may be collected for genetic and immunologic studies. Some participants might undergo skin biopsies. The study involves genetic analysis and functional immunologic tests to identify disease-associated variants and features. During the study, participants provide samples for laboratory analysis and may have their medical records reviewed. Researchers measure the number and types of genetic variants linked to inflammatory diseases over up to five years. Study involvement includes mail-in sample collection and possible clinical evaluations. The total participation time can extend up to the study end date in 2032, with ongoing data collection and analysis to improve understanding of these conditions.

CONDITIONS

Brief Title

Autoimmune and Autoinflammatory Genetics Study

Who Can Participate

Age: 1Month +

All Genders

Healthy Volunteers

Eligibility Criteria

You may qualify if you...

Willingness to participate in study procedures, including providing blood or saliva samples for genetic analysis
At least one month old regardless of sex assigned at birth
Medical history consistent with possible autoinflammatory disease or known diagnosis such as VEXAS syndrome (for probands)
Ability to understand and willingness to sign informed consent
Relationship by blood or marriage to an enrolled or soon-to-be-enrolled individual with autoinflammatory disease (for family members)
Likelihood that sample analysis will aid genetic or functional study of affected relative (for family members)
At least five years old and not pregnant (for healthy volunteers)
Likelihood that sample will advance functional analysis of studied autoinflammatory condition (for healthy volunteers)

You will not qualify if you...

Low suspicion of autoinflammatory disease or genetic cause (for probands)
Possible autoinflammatory disease in family members, who will be enrolled as probands instead
Presence of autoinflammatory disease or similar conditions (e.g., hematologic malignancy, rheumatologic disease) in healthy controls

Research Team

David Beck, MD, PhD

Mei-Kay Wong, MS, MPH, CGC, CPH

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Study of Genetics and Natural History in VEXAS Syndrome and Related Autoinflammatory and Autoimmune Diseases

On this page

AI-Summary

What this Trial Is About

Brief Title

Who Can Participate

Eligibility Criteria

Research Team

Not the Right Trial for You?

On this page

Who Can Participate

Eligibility Criteria