Who may be eligible for the Autoimmune and Autoinflammatory Genetics Study trial?

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 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. In order to be eligible to participate in this study as a healthy volunteer, an individual must meet all of the following criteria: * 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. Exclusion Criteria: For any of the three categories of subjects, an individual will be excluded from participation in this study for the following reasons: Probands: an individual will not be enrolled as a proband if the study team has a low suspicion of having an autoinflammatory disease or a genetic cause for an autoinflammatory disease. Family Members: an individual will not be enrolled as a family member if the study team believes they may have an autoinflammatory disease, in which case, they will be enrolled as a proband. Healthy controls: an individual will not be enrolled as a healthy control if they have an autoinflammatory disease, or any condition that may mimic an autoinflammatory disease, such as hematologic malignancy, rheumatologic disease.

ClinicalTrials.gov record NCT06004349

Autoimmune and Autoinflammatory Genetics Study

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

Natural History and Genetics of VEXAS Syndrome and Related Autoinflammatory Syndromes

About this page. This page shows the study's official ClinicalTrials.gov record ↗, with added help to make it easier to understand. We explain medical terms, highlight key details in plain language, and suggest questions you may want to ask the study team.

The record is periodically copied from ClinicalTrials.gov and may lag behind changes. AI summaries are checked by software, not a clinician.Read moreShow less

The official record is written by the study sponsor and published on ClinicalTrials.gov. It may not always reflect the latest changes. Before making any decisions, please confirm important information with the study team and your own healthcare team.

Where you see "AI summary", AI was used to create a plain-language explanation and software checked it against the source. It has not been reviewed by a clinician, so it may contain mistakes or leave out important details.

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.

Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.

Healthy volunteersAcceptedPeople who do not have the condition being studied who are allowed to take part. Some studies include both people with the condition and healthy volunteers; others may enrol only healthy volunteers.

AgeUnder 1 month old and older

SexAll

LocationUnited States

AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This prospective observational natural-history study enrolls people with known or suspected autoinflammatory diseases (including VEXAS), their family members, and healthy volunteers. It collects biological samples (blood, saliva, hair, nail, buccal) and clinical information; a small number of participants may have skin biopsy. The study seeks to characterize genetic and immunologic features and to describe clinical presentations over time.

What it is studying. The study tests whether genetic factors contribute to disorders of inflammation and aims to discover genetic variants linked to these diseases. It also seeks to describe immune system features, genotype–phenotype relationships, and the clinical course of poorly characterized inflammatory disorders such as VEXAS syndrome.

What the researchers hope to learn. Scientific goals: to discover rare and common germline variants, structural genomic variants, and somatic mutations that contribute to human inflammatory disease; to enumerate immunologic features and genotype–phenotype associations in specific inflammatory diseases; and to describe clinical features of newly defined or poorly characterized inflammatory disorders through chart review.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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 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.
In order to be eligible to participate in this study as a healthy volunteer, an individual must meet all of the following criteria:
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.

Exclusion criteria

For any of the three categories of subjects, an individual will be excluded from participation in this study for the following reasons:
Probands: an individual will not be enrolled as a proband if the study team has a low suspicion of having an autoinflammatory disease or a genetic cause for an autoinflammatory disease.
Family Members: an individual will not be enrolled as a family member if the study team believes they may have an autoinflammatory disease, in which case, they will be enrolled as a proband.
Healthy controls: an individual will not be enrolled as a healthy control if they have an autoinflammatory disease, or any condition that may mimic an autoinflammatory disease, such as hematologic malignancy, rheumatologic disease.

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

This is a single-site protocol designed to test the hypothesis that genetic factors contribute to susceptibility to human disorders of inflammation, and the hypothesis that identifying such genetic susceptibility factors will contribute to our understanding of the immunologic mechanisms of these diseases. There are 3 main objectives: Primary Objective: To discover the genetic basis of human disorders of inflammation or autoinflammatory diseases. Secondary Objective: To enumerate immunologic features and genotype-phenotype associations in specific inflammatory diseases, such as VEXAS syndrome. Tertiary/Exploratory Objective: To describe the clinical features of poorly characterized or newly defined disorders of inflammation, such as VEXAS syndrome, through the retrospective chart review of standard medical practice follow up

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Probands and family members provide, at minimum, a mail-in blood or saliva sample for genetic analysis (healthy volunteers give samples as appropriate) and may give additional samples such as blood for immunologic/functional studies, hair, nail, or buccal swabs. A small number of people may undergo a skin biopsy. Study staff will review medical records (retrospective chart review) to describe clinical features. All participants (or their parent/representative) must complete informed consent and any required capacity assessment.

How the study is structured. Single-site, prospective observational cohort. Participants give samples and medical-record information over time; no experimental treatments are assigned.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
Which of the eligibility criteria would need to be checked with tests before I could join?

More on VEXAS syndrome

Clinical trials11 trials listed for VEXAS syndromeEvery trial the registry lists for VEXAS syndrome, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in VEXAS syndrome researchLatest monthly update: September 2026. Includes: IL-6 and JAK drugs. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start: Apr 15, 2022
Primary completion: Apr 5, 2032 (estimated)
Study completion: Apr 5, 2032 (estimated)
Target enrollment: 1500 participants (estimated)
Last updated on registry: Jul 9, 2025
Data verified: Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor: NYU Langone Health

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

David Beck, MD, PhD 📞 646-501-7400 ✉ BeckClinic@nyulangone.org
Mei-Kay Wong, MS, MPH, CGC, CPH 📞 212-263-0350 ✉ BeckClinic@nyulangone.org

Participating sites (2)

NYC H+H/BellevueRecruiting
New York, New York, 10016 · United States
NYU Langone HealthRecruiting
New York, New York, 10016 · United States

Terms used on this page · explanations by MedicalUpdates.ai

natural history: A study that follows how a condition changes over time without assigning an experimental treatment. It may involve study visits and tests, and is often used to plan future trials.
biopsy: Removal of a small piece of tissue so it can be examined under a microscope. 'Biopsy-proven' or 'histologically confirmed' means the diagnosis was confirmed by examining tissue under a microscope.
Legally Authorized Representative: A person who is legally allowed to make decisions, including consent to research, on behalf of someone who cannot consent for themselves.
written informed consent: The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
Inclusion Criteria: The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria: The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
Primary Objective: The main result the study is designed to measure and report on. Other results, called secondary outcomes, are also collected.
Secondary Objective: An additional result the study measures alongside the primary outcome, for example quality of life or a laboratory value.
follow up: The period after treatment or enrolment during which participants are observed or contacted, for example to record side effects or outcomes.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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