Exploring genetic factors in autoimmune and autoinflammatory diseases

Natural History and Genetics of VEXAS Syndrome and Related Autoinflammatory Syndromes

This study is trying to find out how genes affect autoimmune and autoinflammatory diseases, especially VEXAS syndrome, by looking at samples from patients with known or unknown inflammatory conditions.

Quick facts

• Study type: Observational
• Enrollment: 1500 (estimated)
• Ages: 1 Month and up
• Sex: All
• Sponsor: NYU Langone Health (Academic / other)
• Locations: 2 sites (New York, New York and 1 other locations)
• Trial ID: NCT06004349 on ClinicalTrials.gov

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.

Who should consider this trial

Good fit: Ideal candidates include individuals with known or suspected autoinflammatory diseases, such as VEXAS syndrome, who are willing to participate in study procedures.

Not a fit: Patients without any signs of autoinflammatory diseases or those unwilling to provide samples for analysis may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to better understanding and management of autoimmune and autoinflammatory diseases.

How similar studies have performed: Other studies exploring genetic factors in autoimmune diseases have shown promise, indicating that this approach could yield valuable insights.

Eligibility criteria

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 this trial is running

New York, New York and 1 other locations

• 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

Conditions VEXAS Syndome; Autoinflammatory Disease; Autoimmune Disease; Rheumatic Disease; VEXAS syndrome