Trisomy 8 Mosaicism Health Journey: What We’re Learning Over Time
Official title: Natural History of Trisomy 8-Associated Autoinflammatory Disease (TRIAD) and Related Disorders
Run by National Institutes of Health Clinical Center (CC) · NCT07683104 · Data updated 2026-11-12
This study tests how trisomy 8 mosaicism and related autoinflammatory conditions unfold over many years by following affected individuals and their healthy relatives.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 1 Day to 99 Years |
| Sex | All |
| Enrollment | 750 (estimated) |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Status | Recruiting |
| Started | November 15, 2026 |
| Main results expected | May 1, 2056 |
| Study ends | June 1, 2056 |
| Registry record updated | November 10, 2026 |
| Trial ID | NCT07683104 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are individuals with confirmed trisomy 8 mosaicism or TRIAD-like inflammatory mucosal disease, plus willing healthy biological relatives.
✕Probably not a fit
Some participants may not experience direct clinical benefits during the study period, though data contribute to broader knowledge.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This is a long-term observational study to map the natural history of trisomy 8 mosaicism and related autoinflammatory disorders. Researchers will collect clinical data and diverse biological samples from affected participants and their unaffected relatives, with visits every 1–2 years for up to about 30 years. Data may come from in-person or remote assessments, including physical exams, blood tests, imaging, and patient-reported information, plus saliva, tissue, and other specimen types. The aim is to better understand disease mechanisms, screening, diagnosis, and management strategies, while enabling future research through stored samples and data.
Why it matters
Potential benefit: If successful, this study could clarify how TRIAD and related conditions progress and improve future care strategies.
How similar studies have gone: Previous natural history studies in rare mosaic disorders have provided insights, but this specific trisomy 8–related program is relatively novel.
Who can join: the full rules
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: To be eligible to participate in this study, an individual must meet the following criteria: 1. Stated willingness to comply with study requirements. 2. Aged \<= 99 (ability to be seen at NIH vs. remote visit may be determined by age and location). 3. Willingness to allow storage of data and specimens for future research. Additional Inclusion Criteria for Affected Participants 1. Must have one of the following: 1. Trisomy 8 mosaicism verified by genetic testing (including but not limited to karyotype, fluorescence in situ hybridization \[FISH\], whole genome sequencing \[WGS\], whole exome sequencing \[WES\], or microarray), or 2. Inflammatory mucosal ulcerative disease clinically similar to TRIAD at the discretion of the principal investigator. 2. Ability of participant or LAR to provide informed consent. Additional Inclusion Criteria for Biological Relatives 1. Be an unaffected biological relative of an affected participant. 2. Ability to provide informed consent. 3. Willingness to provide at least one biospecimen. EXCLUSION CRITERIA: Individuals with any condition or who are taking any medications that, in the opinion of the investigator, contraindicates participation in the study will be excluded. Co-enrollment guidelines: Enrollment in this protocol does not preclude individuals from enrolling or participating in any other NIH protocols, including studies of investigational agents. Participants will be asked about their participation in other studies to ensure that blood draws do not exceed NIH limits for research protocols.
Where it's running
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National Institutes of Health Clinical Center
Bethesda, Maryland, United States Recruiting
Study contacts
- Principal investigator: Kalpana Manthiram, M.D. — National Institute of Allergy and Infectious Diseases (NIAID)
- Study coordinator: Laura E Failla, C.R.N.P.
- Email: laura.failla@nih.gov
- Phone: (240) 669-5323
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.