Genetic hunt for hidden causes of mysterious inflammatory diseases
NCT ID NCT06004349
First seen Jul 08, 2026 · Last updated Jul 09, 2026 · Updated 1 time
Summary
This study aims to better understand VEXAS syndrome and other autoinflammatory conditions by analyzing participants' DNA from blood, saliva, or skin samples. Researchers hope to discover new genetic variants that cause or contribute to these diseases. The study enrolls people of all ages with known or suspected autoinflammatory disorders, as well as healthy volunteers for comparison.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this could uncover new genetic causes of inflammatory diseases, pointing toward better diagnosis or future treatments.
- What could go wrong
- This is an observational study, not a treatment trial. It may not directly lead to therapies, and genetic discoveries may take years to translate into clinical use.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 1,500 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Apr 2022
- Expected to finish
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Apr 2032
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
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.
- Ages
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1 month and older
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The study's own enquiry address
This study publishes an address for enquiries. See it below .
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The places running it
2 sites. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
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Study contacts
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Contact
Email: •••••@•••••
Locations
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NYC H+H/Bellevue
RECRUITINGNew York, New York, 10016, United States
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NYU Langone Health
RECRUITINGNew York, New York, 10016, United States
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