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

Conditions

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

Eligibility Criteria

Sex

ALL

Age

1 Day - 99 Years

Healthy Volunteers

Not accepted

Study Details

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.

Key Dates

First listed

Jul 6, 2026

Start date

Aug 23, 2026

Status verified

Jul 2026

Primary completion

May 1, 2056

Completion

Jun 1, 2056

Study Design

Enrollment

750 participants (estimated)

Arms

• Arm: Affected Participants
  Individuals ages \<= 99 with known or suspected trisomy 8 mosaicism, or with clinical phenotype consisting of mucosal ulcerations similar to TRIAD.
• Arm: Non-affected biological family member participants
  Non-affected biological family members of enrolled participants.

Primary Outcome Measure

Clinical characterization of participants with trisomy 8 mosaicism and related disorders based on history, physical examination, radiologic imaging, and laboratory testing. [ Time Frame: Length of the study ]

Central Contacts

• Laura E Failla, C.R.N.P.
  (240) 669-5323
  [email protected]
• Kalpana Manthiram, M.D.
  (301) 529-4787
  [email protected]

Locations (1)

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