RecruitingNot Applicable

Autoimmune and Autoinflammatory Genetics Study

United States1,500 participantsStarted 2022-04-15

Plain-language summary

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.

Who can participate

Age range

1 Month

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: In order to be eligible to participate in this study as a subject with known or suspected autoinflammatory disease, an individual must meet all of the following criteria: * 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. In order to be eligible to participate in this study as a family member of a subject with known or suspected autoinflammatory disease, an individual must meet all of the following criteria: * 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 fun…

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

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

Timeframe: Study End (Up to Year 5)

Number of newly discovered structural genomic variants that cause human inflammatory disease

Timeframe: Study End (Up to Year 5)

Number of newly discovered common, low penetrance germline variants that confer susceptibility to human inflammatory disease

Timeframe: Study End (Up to Year 5)

Number of newly discovered somatic mutations that give rise to human inflammatory disease

Timeframe: Study End (Up to Year 5)

Trial details

NCT IDNCT06004349

SponsorNYU Langone Health

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2032-04-05

Contact for this trial

David Beck, MD, PhD

646-501-7400 BeckClinic@nyulangone.org

View on ClinicalTrials.gov More VEXAS Syndome trials

Plain-language summary

Who can participate

Age range

1 Month

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

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

Timeframe: Study End (Up to Year 5)

Number of newly discovered structural genomic variants that cause human inflammatory disease

Timeframe: Study End (Up to Year 5)

Number of newly discovered common, low penetrance germline variants that confer susceptibility to human inflammatory disease

Timeframe: Study End (Up to Year 5)

Number of newly discovered somatic mutations that give rise to human inflammatory disease

Timeframe: Study End (Up to Year 5)