MedTrace Logo

Natural History of Trisomy 8-Associated Autoinflammatory Disease (TRIAD) and Related Disorders

NCT07683104 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 750

Last updated 2026-08-11

No results posted yet for this study

Summary

Background:

Trisomy 8 mosaicism is a genetic disorder that can increase inflammation in the body. Symptoms include fevers; sores or ulcers in the mouth, digestive tract, or genital area; skin rashes; problems in organs or tissues; and changes in bone marrow cells. Researchers want to conduct a natural history study to learn more about these symptoms and what causes them.

Objective:

To gather data and samples from people with and without the trisomy 8 mosaicism.

Eligibility:

People of any age with the trisomy 8 gene mosaicism. Their healthy relatives are also needed.

Design:

Affected participants will have visits every 1 to 2 years for 30 years at NIH. Each visit will take 1 to 5 days and may be in-person or remote. With remote visits, participants may have a video call with the study team and samples may be sent to researchers by mail.

Participants may have these procedures:

Physical exam, with blood tests.

Tests of brain function and motor skills.

Sensory tests. Researchers will see how participants respond to sensations such as pinpricks, heat, cold, and pressure.

Magnetic resonance imaging (MRI) scan of the brain and/or spine.

X-ray of the spine.

Ultrasound test of heart function (echocardiogram).

Tissues samples (biopsies) collected from the skin, inside of the mouth, and bone marrow.

Swabs to collect cells from the mouth, skin, and vagina.

Collection of blood, stool, urine, saliva, hair, and fingernail samples.

X-rays, MRI, and heart tests will be done only once. Other procedures may be repeated at each visit. All tests and procedures are voluntary.

Healthy relatives who enroll will have a baseline visit and then follow-up visits as needed. They will have a physical exam. The inside of their mouth may be swabbed. Samples of blood, stool, urine, and saliva may be taken.

Conditions

  • Trisomy 8 Mosaicism
  • Trisomy 8 Associated Autoinflammatory Disease
  • Mucosal Ulcerations

Sponsors & Collaborators

  • National Institute of Allergy and Infectious Diseases (NIAID)

    lead NIH

Principal Investigators

  • Kalpana Manthiram, M.D. · National Institute of Allergy and Infectious Diseases (NIAID)

Eligibility

Min Age
1 Day
Max Age
99 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2026-08-16
Primary Completion
2056-05-01
Completion
2056-06-01

Countries

  • United States

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07683104 on ClinicalTrials.gov