An observational study in VEXAS Syndome, Autoinflammatory Disease and Autoimmune Disease, sponsored by NYU Langone Health. Recruiting at 2 sites in United States. Open to participants aged 1 Month and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-07-08.
Sponsored by NYU Langone Health · Observational
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.
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
802 studies on the registry are indexed under Autoimmune Diseases; 271 are open to participants now.
This study's planned enrollment of 1,500 is above the median of 300 across 229 observational studies indexed under Autoimmune Diseases.
Browse Autoimmune Diseases studies →NYU Langone Health is the lead sponsor of 1,430 studies on the registry; 258 are open to participants now.
Of its 235 completed or terminated interventional studies of FDA-regulated products, 197 (84%) have results posted.
Counted across the registry records on this site, refreshed daily.
There are three populations that will be included in this study: subjects with known or suspected autoinflammatory diseases (i.e., Probands), family members of subjects with known or suspected autoinflammatory diseases, and healthy controls. Subjects will be recruited regardless of gender, demographic group, or general health status. Probands and family members must be more than one month of age at time of enrollment; healthy controls must be over 5 years old.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
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:
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:
In order to be eligible to participate in this study as a healthy volunteer, an individual must meet all of the following criteria:
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 , rheumatologic disease.
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.
Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Cancer (malignancy)
Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.
Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Participants with known or suspected autoinflammatory diseases (i.e., Probands)
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.
Number of newly discovered rare, high penetrance germline variants that cause human inflammatory disease
Time frame: Study End (Up to Year 5)
Number of newly discovered structural genomic variants that cause human inflammatory disease
Time frame: Study End (Up to Year 5)
Number of newly discovered common, low penetrance germline variants that confer susceptibility to human inflammatory disease
Time frame: Study End (Up to Year 5)
Number of newly discovered somatic mutations that give rise to human inflammatory disease
Time frame: Study End (Up to Year 5)
Plan to share: Yes — The de-identified participant data from the final research dataset used in the published manuscript will be shared upon reasonable request with investigators whose proposed use of the data has been approved by the PI, Dr. David Beck, beginning 9 months and ending 36 months following article publication or as required by a condition of awards and agreements supporting the research provided the investigator who proposes to use the data executes a data use agreement with NYU Langone Health. Requests may be directed to: BeckClinic@nyulangone.org. The protocol and statistical analysis plan will be made available on Clinicaltrials.gov only as required by federal regulation or as a condition of awards and agreements supporting the research.
Supporting information: Study protocol, Statistical analysis plan
Time frame: Beginning 9 months and ending 36 months following article publication or as required by a condition of awards and agreements supporting the research.
Access criteria: The investigator whose use of the data has been approved by the PI, Dr. David Beck, will be granted access. Requests should be directed to BeckClinic@nyulangone.org. To gain access, data requestors will need to sign a data access agreement.
Started Apr 2022 (actual). Primary completion is estimated for Apr 2032, 119 months after the start.
Of 77 non-industry observational studies under Autoimmune Diseases, half reached primary completion within 121 months of starting (the median), counting those still running; a quarter within 41 and three quarters within 309. This study's planned 119 months is close to that.
Counting every sponsor, half of 92 studies reached it within 121 months; a quarter within 41 and three quarters within 309.
How these figures are worked out, and which studies are left out of them.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
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