Scientists launch deep dive into rare genetic condition behind chronic inflammation
NCT ID NCT07683104
First seen Jul 06, 2026 · Last updated Jul 24, 2026 · Updated 14 times
Summary
This study aims to better understand trisomy 8 mosaicism, a rare genetic condition where some cells have an extra copy of chromosome 8, and its link to autoinflammatory disease (TRIAD). Researchers will follow affected individuals and their healthy relatives over time, collecting medical data, blood, tissue samples, and imaging to map the full range of symptoms, immune system changes, and long-term risks such as cancer. The goal is to improve diagnosis and management of these poorly understood disorders.
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 research could improve screening and diagnosis for trisomy 8-related conditions and identify new genetic causes of mucosal ulcers.
- What could go wrong
- This is an observational study, not a treatment trial. It will not directly test any therapy, and findings may take years to translate into clinical practice.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for MUCOSAL ULCERATIONS are added.
By submitting, you agree to our Terms of use
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.
Contacts and locations
Show contact details
Enter your email to view the contact information for this study.
By submitting, you agree to our Terms of use
Study contacts
-
Contact
Phone: •••-•••-•••• Email: •••••@•••••
-
Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
-
National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact Phone: •••-•••-•••• Email: •••••@•••••