Autoimmune and Autoinflammatory Genetics Study

Study Purpose

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.

Recruitment Criteria

Accepts Healthy Volunteers Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms	Yes
Study Type An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes. An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes. Searching Both is inclusive of interventional and observational studies.	Observational
Eligible Ages	1 Month and Over
Gender	All

More Inclusion & Exclusion 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.

Trial Details

Trial ID: This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.	NCT06004349
Phase Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans. Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data. Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs. Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.
Lead Sponsor The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.	NYU Langone Health
Principal Investigator The person who is responsible for the scientific and technical direction of the entire clinical study.	David Beck, MD, PhD
Principal Investigator Affiliation	NYU Langone Health
Agency Class Category of organization(s) involved as sponsor (and collaborator) supporting the trial.	Other
Overall Status	Recruiting
Countries	United States
Conditions The disease, disorder, syndrome, illness, or injury that is being studied.	VEXAS Syndome, Autoinflammatory Disease, Autoimmune Disease, Rheumatic Disease

Additional Details

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

Arms & Interventions

Arms

: Participants with known or suspected autoinflammatory diseases

Participants with known or suspected autoinflammatory diseases (i.e., Probands)

: Family member

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

: Healthy control

Interventions

Contact a Trial Team

If you are interested in learning more about this trial, find the trial site nearest to your location and contact the site coordinator via email or phone. We also strongly recommend that you consult with your healthcare provider about the trials that may interest you and refer to our terms of service below.

NYC H+H/Bellevue, New York, New York

Status

Recruiting

Address

NYC H+H/Bellevue

New York, New York, 10016

Site Contact

[email protected]

646-501-7400

NYU Langone Health, New York, New York