Autoimmune and Autoinflammatory Genetics Study
Study Details
Study Description
Brief Summary
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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Participants with known or suspected autoinflammatory diseases
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| Family members of participants with known or suspected autoinflammatory diseases
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| Healthy control
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Outcome Measures
Primary Outcome Measures
- Number of newly discovered rare, high penetrance germline variants that cause human inflammatory disease [Study End (Up to Year 5)]
- Number of newly discovered structural genomic variants that cause human inflammatory disease [Study End (Up to Year 5)]
- Number of newly discovered common, low penetrance germline variants that confer susceptibility to human inflammatory disease [Study End (Up to Year 5)]
- Number of newly discovered somatic mutations that give rise to human inflammatory disease [Study End (Up to Year 5)]
Eligibility Criteria
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:
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Stated willingness to participate in study procedures (which at the very least includes providing a mail-in blood or saliva sample for genetic analysis);
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Regardless of gender, at least one month of age;
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A medical history that, in the expert opinion of the PI and study team, is consistent with the possibility of autoinflammatory disease; and
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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:
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Stated willingness to participate in study procedures (which at the very least includes providing a mail-in sample for genetic analysis);
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Regardless of gender, at least one month of age;
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Relationship, either by blood or marriage, to an individual enrolled or about to be enrolled in the study with known or suspected autoinflammatory disease;
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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
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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:
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Stated willingness to participate in study procedures for healthy volunteers;
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Regardless of gender, at least five years old, and not pregnant (by history of a missed menstrual period);
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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
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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.
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.
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | NYC H+H/Bellevue | New York | New York | United States | 10016 |
| 2 | NYU Langone Health | New York | New York | United States | 10016 |
Sponsors and Collaborators
- NYU Langone Health
Investigators
- Principal Investigator: David Beck, MD, PhD, NYU Langone Health
Study Documents (Full-Text)
None provided.More Information
Publications
- Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, Magaziner SJ, Strande NT, Cantor A, Haley JS, Cook A, Hill W, Schwartz AL, Grayson PC, Ferrada MA, Kastner DL, Carey DJ, Stewart DR. Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population. JAMA. 2023 Jan 24;329(4):318-324. doi: 10.1001/jama.2022.24836.
- Ferrada MA, Savic S, Cardona DO, Collins JC, Alessi H, Gutierrez-Rodrigues F, Kumar DBU, Wilson L, Goodspeed W, Topilow JS, Paik JJ, Poulter JA, Kermani TA, Koster MJ, Warrington KJ, Cargo C, Tattersall RS, Duncan CJA, Cantor A, Hoffmann P, Payne EM, Bonnekoh H, Krause K, Cowen EW, Calvo KR, Patel BA, Ombrello AK, Kastner DL, Young NS, Werner A, Grayson PC, Beck DB. Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis. Blood. 2022 Sep 29;140(13):1496-1506. doi: 10.1182/blood.2022016985.
- 22-00038