Natural History and Genetics of VEXAS Syndrome and Related Autoinflammatory Syndromes
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.
⁃ 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.