Autoimmune and Autoinflammatory Genetics Study
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age1+
SponsorNYU Langone Health
About this trial
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.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
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.
Disqualifiers
None
Trial population
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.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
1,500 Participants
are grouped into 3 trial groupsGroup A: Participants with known or suspected autoinflammatory diseases
Group B: Family member
Group C: Healthy control
Trial outcomes
Primary outcomes
1
Number of newly discovered rare, high penetrance germline variants that cause human inflammatory disease
Time frame
Study End (Up to Year 5)2
Number of newly discovered structural genomic variants that cause human inflammatory disease
Time frame
Study End (Up to Year 5)3
Number of newly discovered common, low penetrance germline variants that confer susceptibility to human inflammatory disease
Time frame
Study End (Up to Year 5)4
Number of newly discovered somatic mutations that give rise to human inflammatory disease
Time frame
Study End (Up to Year 5)Sponsors and contacts
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Source ClinicalTrials.gov