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Scientists launch deep dive into rare genetic condition behind chronic inflammation

NCT ID NCT07683104

Knowledge-focused Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jul 06, 2026 · Last updated Sep 09, 2026 · Updated 46 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.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 750 people

The number the study aims to enrol. It can still change while the study runs.

Expected to start

Sep 2026

An estimate. Start dates often move.

Expected to finish

Jun 2056

An estimate. End dates often move.

Lead sponsor

A government research agency

The lead sponsor is the US National Institutes of Health.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Outside provider referral, current NIH study patients

Ages

1 day to 99 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

* 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.

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Conditions

The condition(s) this trial relates to.

foot and mouth disease mosaic trisomy 8 Myelodysplastic Syndromes relapsing fever

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Mucosal ulcerations Trisomy 8 associated autoinflammatory disease Trisomy 8 mosaicism

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States