Autoimmune and Autoinflammatory Genetics Study

This study is looking for people with known or suspected inflammatory diseases, including VEXAS syndrome, autoimmune diseases, and autoinflammatory diseases. The goal is to better understand how genetics contribute to these conditions. Researchers will collect samples like blood, saliva, hair, nails, or cheek swabs for genetic analysis. Some participants may also have blood tests for immune system studies or a skin biopsy. The study aims to discover new genetic factors that cause or increase the risk of inflammatory diseases. This is an observational study, meaning there are no specific treatments being tested. The study is currently recruiting participants.

Study design: This is an observational study planning to enroll up to 1500 participants with inflammatory diseases.
What's involved: You would provide a mail-in blood or saliva sample for genetic analysis. Other samples like hair, nails, or cheek swabs may be collected, and some participants may have blood tests or a skin biopsy.
Compensation: Not stated in the trial record.
Follow-up: The study will track outcomes related to genetic discoveries until the study ends, which could be up to 5 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

Autoimmune and Autoinflammatory Genetics Study

Recruiting

Not specifiedAges 1+Observational

NYU Langone Health

~1,500 participants

Updated 2026-07-08 on ClinicalTrials.gov

At a glance

Recruiting sites

2 of 2 listed sites are recruiting right now

RecruitingSuspended, closed, or not yet open

What they're measuring

Number of newly discovered rare, high penetrance germline variants that cause human inflammatory disease

Measured over Study End (Up to Year 5)

+3 more outcomes measured

Conditions

VEXAS Syndome

Autoinflammatory Disease

Autoimmune Disease

Rheumatic Disease

Where it's being run

2 sites across 1 states

New York2

Study leadership

David Beck, MD, PhD · PRINCIPAL_INVESTIGATOR · NYU Langone Health

Who to contact

David Beck, MD, PhD

[email protected]

646-501-7400

Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Stated willingness to participate in study procedures (which at the very least includes providing a mail-in blood or saliva sample for genetic analysis);

Regardless of sex assigned at birth, at least one month of age;

A medical history that, in the expert opinion of the PI and study team, is consistent with the possibility of autoinflammatory disease or known diagnosis of an autoinflammatory disease, such as VEXAS syndrome; and

Ability of the subject, parents (in the case of children), or Legally Authorized Representative to understand and the willingness to sign a written informed consent document.

Stated willingness to participate in study procedures (which at the very least includes providing a mail-in sample for genetic analysis);

Regardless of sex assigned at birth, at least one month of age;

Relationship, either by blood or marriage, to an individual enrolled or about to be enrolled in the study with known or suspected autoinflammatory disease;

Likelihood, in the expert opinion of the PI and study team, that analysis of a sample from the individual would advance genetic or functional analysis of the affected relative's possible autoinflammatory condition; and

Ability of the subject, parents (in the case of children), to understand and the willingness to sign a written informed consent document.

Stated willingness to participate in study procedures for healthy volunteers;

Regardless of sex assigned at birth, at least five years old, and not pregnant (by history of a missed menstrual period);

Likelihood, in the expert opinion of the PI that a sample from the individual would advance the functional analysis of an autoinflammatory condition under study; and

Ability of the subject to understand and the willingness to sign a written informed consent document by a capacity assessment provided by the PI and study team.

What this trial measures

Number of newly discovered rare, high penetrance germline variants that cause human inflammatory diseaseStudy End (Up to Year 5)
Number of newly discovered structural genomic variants that cause human inflammatory diseaseStudy End (Up to Year 5)
Number of newly discovered common, low penetrance germline variants that confer susceptibility to human inflammatory diseaseStudy End (Up to Year 5)
Number of newly discovered somatic mutations that give rise to human inflammatory diseaseStudy End (Up to Year 5)

Trialytics