Autoimmune and Autoinflammatory Genetics Study

Launched by NYU LANGONE HEALTH · Aug 21, 2023

Keywords

ClinConnect Summary

The Autoimmune and Autoinflammatory Genetics Study is looking to learn more about certain genetic diseases, particularly VEXAS syndrome and other autoinflammatory or autoimmune diseases. The researchers aim to gather blood, saliva, hair, nails, and other samples from participants to better understand how these conditions work and how they might be treated. If you or a family member has been diagnosed with one of these diseases or has symptoms that suggest an autoinflammatory condition, you might be eligible to participate. Healthy volunteers can also join the study to help researchers compare samples.

To participate, individuals need to be at least one month old and willing to provide samples for testing. Participants will be asked to sign a consent form, and the study team will guide them through the process. This study is currently recruiting participants, and it aims to deepen our understanding of these complex conditions, which could ultimately lead to better treatments and outcomes for patients. If you're interested, reach out to the study team for more details!

Gender

ALL

Eligibility 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:
• • 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.