Natural History Study for Trisomy 8-Associated Autoinflammatory Disease (TRIAD)
This observational study aims to understand more about Trisomy 8 mosaicism, a genetic condition that can cause inflammation. Researchers want to learn about the symptoms, such as fevers, mouth sores, and skin rashes, and what causes them. They will collect information and samples from people with Trisomy 8 mosaicism and their healthy family members. The goal is to better characterize the condition and improve screening, diagnosis, and management. There is no specific intervention being tested; instead, the study focuses on gathering information over time.
- Study design
- This is an observational study designed to enroll up to 750 participants, including those with Trisomy 8 mosaicism and their healthy relatives.
- What's involved
- If you have Trisomy 8 mosaicism, you would have visits every 1 to 2 years for up to 30 years, lasting 1 to 5 days each. These visits can be in-person at NIH or remote, and may include providing various samples like blood, tissue biopsies, and questionnaires.
- Compensation
- Not stated in the trial record.
- Follow-up
- Participants with Trisomy 8 mosaicism will have optional follow-up visits approximately every 1 to 2 years, depending on the study's needs and your clinical status and interest.
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Natural History of Trisomy 8-Associated Autoinflammatory Disease (TRIAD) and Related Disorders
At a glance
Conditions
Where it's being run
1 sites across 1 statesStudy leadership
- Kalpana Manthiram, M.D. · PRINCIPAL_INVESTIGATOR · National Institute of Allergy and Infectious Diseases (NIAID)
Who to contact
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What this trial measures
- Clinical characterization of participants with trisomy 8 mosaicism and related disorders based on history, physical examination, radiologic imaging, and laboratory testing.Length of the study
Characterize the clinical spectrum and natural history of trisomy 8 mosaicism and related disorders.
- Characterization of immunologic profile of participants with trisomy 8 mosaicism and related disorders over time in comparison to healthy controls using cellular and molecular techniquesLength of the study
Characterization of immunologic profile of participants with trisomy 8 mosaicism and related disorders over time in comparison to healthy controls using cellular and molecular techniques including, but not limited to immune cell phenotyping, transcriptomics, proteomics, and ex vivo functional studies.