Recruiting

Trisomy 8 Mosaicism

Sponsor:

National Institute of Allergy and Infectious Diseases (NIAID)

Code:

NCT07683104

Conditions

Trisomy 8 Mosaicism

Trisomy 8 Associated Autoinflammatory Disease

Mucosal Ulcerations

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

Study Details

Brief 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

Study ID

NCT07683104

Start date

Sep 14, 2026

Status verified date

Sep 2, 2026

Completion date

Jun 1, 2056

Anticipated

Primary completion date

May 1, 2056

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

  • 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.

Study Design

Enrollment

750 participants

Anticipated

Interventions and Outcome Measures

Arms

Affected Participants

Individuals ages <= 99 with known or suspected trisomy 8 mosaicism, or with clinical phenotype consisting of mucosal ulcerations similar to TRIAD.

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 ]
  • 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 [ Time Frame: Length of the study ]

Central Contacts and Locations

Central contacts

Laura E Failla, C.R.N.P.

(240) 669-5323laura.failla@nih.gov

Kalpana Manthiram, M.D.

(301) 529-4787kalpana.manthiram@nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

Laura Failla, M.S.

240-669-5323laura.failla@nih.gov

Kalpana Manthiram, M.D.

(301) 529-4787kalpana.manthiram@nih.gov

More Information

Sponsor

National Institute of Allergy and Infectious Diseases (NIAID)

Last update posted

Sep 9, 2026

Last verified

Sep 2, 2026

Keywords

  • Genital Ulcers
  • Myelodysplastic Syndromes
  • Mucosal ulcerations
  • Recurrent fever
  • Oral aphthous ulcers
  • Autoinflammatory disease
  • Trisomy 8 mosaicism

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Institute of Allergy and Infectious Diseases (NIAID) on 2026-09-09.