Exploring genetic factors in autoimmune and autoinflammatory diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to improve understanding of genetic factors contributing to autoimmune and autoinflammatory diseases, particularly VEXAS syndrome. It will enroll patients with known genetic conditions or undiagnosed inflammatory disorders, collecting samples such as blood, saliva, and skin biopsies for genetic and immunologic analysis. The study has three main objectives: to discover the genetic basis of these diseases, to explore immunologic features and genotype-phenotype associations, and to describe clinical features of newly defined inflammatory disorders.

Why it matters

Who can join: the full rules

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.

Where it's running

• NYC H+H/Bellevue
  New York, New York, United States Recruiting
• NYU Langone Health
  New York, New York, United States Recruiting

Study contacts

• Principal investigator: David Beck, MD, PhD — NYU Langone Health
• Study coordinator: David Beck, MD, PhD
• Email: BeckClinic@nyulangone.org
• Phone: 646-501-7400

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.