Autoimmune and Autoinflammatory Genetics Study
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| ClinicalTrials.gov Identifier: NCT06004349 |
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Recruitment Status :
Recruiting
First Posted : August 22, 2023
Last Update Posted : October 2, 2023
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| Condition or disease |
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| VEXAS Syndome Autoinflammatory Disease Autoimmune Disease Rheumatic Disease |
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
| Study Type : | Observational |
| Estimated Enrollment : | 1500 participants |
| Observational Model: | Cohort |
| Time Perspective: | Prospective |
| Official Title: | Natural History and Genetics of VEXAS Syndrome and Related Autoinflammatory Syndromes |
| Actual Study Start Date : | April 15, 2022 |
| Estimated Primary Completion Date : | April 5, 2032 |
| Estimated Study Completion Date : | April 5, 2032 |
| Group/Cohort |
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Participants with known or suspected autoinflammatory diseases
Participants with known or suspected autoinflammatory diseases (i.e., Probands)
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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.
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| Healthy control |
- 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) ]
Biospecimen Retention: Samples With DNA
At the initial visit, or after first enrollment for mail in samples, subjects may be asked to provide a peripheral blood sample in an EDTA-anticoagulated lavender-top tube for DNA extraction. In cases where there is severe anemia or psychological factors that may preclude a blood draw, then saliva or buccal brushings may be obtained. For Probands (i.e., not from unaffected relatives or healthy controls), additional samples, such as from a saliva/cheek-swab, hair, urine, nail clippings, skin biopsies and/or other specimens obtained from their clinical team may be collected and/or profiled.
A small number of affected subjects over the age of 5 may also be asked to undergo a research skin biopsy under a separate procedural consent.
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
| Ages Eligible for Study: | 1 Month and older (Child, Adult, Older Adult) |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | Yes |
| Sampling Method: | Non-Probability Sample |
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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT06004349
| Contact: David Beck, MD, PhD | 646-501-7400 | BeckClinic@nyulangone.org | |
| Contact: Mei-Kay Wong, MS, MPH, CGC, CPH | 212-263-0350 | BeckClinic@nyulangone.org |
| United States, New York | |
| NYC H+H/Bellevue | Recruiting |
| New York, New York, United States, 10016 | |
| NYU Langone Health | Recruiting |
| New York, New York, United States, 10016 | |
| Principal Investigator: | David Beck, MD, PhD | NYU Langone Health |
| Responsible Party: | NYU Langone Health |
| ClinicalTrials.gov Identifier: | NCT06004349 |
| Other Study ID Numbers: |
22-00038 |
| First Posted: | August 22, 2023 Key Record Dates |
| Last Update Posted: | October 2, 2023 |
| Last Verified: | September 2023 |
| Individual Participant Data (IPD) Sharing Statement: | |
| Plan to Share IPD: | Yes |
| Plan Description: | 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 Materials: |
Study Protocol Statistical Analysis Plan (SAP) |
| 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. |
| Studies a U.S. FDA-regulated Drug Product: | No |
| Studies a U.S. FDA-regulated Device Product: | No |
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VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) |
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Rheumatic Diseases Collagen Diseases Autoimmune Diseases |
Immune System Diseases Musculoskeletal Diseases Connective Tissue Diseases |