An observational study in Trisomy 8 Mosaicism, Trisomy 8 Associated Autoinflammatory Disease and Mucosal Ulcerations, sponsored by National Institute of Allergy and Infectious Diseases (NIAID). Recruiting at 1 site in United States. Open to participants aged 1 Day to 99 Years. Per ClinicalTrials.gov, last updated 2026-11-10.
Sponsored by National Institute of Allergy and Infectious Diseases (NIAID) · Observational
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.
Study Description:
This is a natural history protocol designed to characterize the clinical spectrum of trisomy 8 mosaicism and trisomy 8-associated autoinflammatory disease (TRIAD) and related autoinflammatory disorders and further evaluate approaches to screening, diagnosis, and management. We will enroll affected patients and their unaffected relatives and collect a variety of clinical data and biological specimens for research analyses to better understand disease mechanisms. Biological samples from affected participants may include biopsies from the oral mucosa, skin, and bone marrow; swabs of the mouth, skin, and vagina; urine, stool, and saliva collections; and hair and fingernail clippings. Other clinical data may include imaging studies (such as magnetic resonance imaging [MRI], x-rays, and echocardiogram), questionnaires, and results from medical consults and clinically indicated procedures. Biological samples from unaffected relatives of participants may include blood, mouth swabs, stool, urine, and saliva. Participants may be seen in person or remotely via telehealth and provide send-in samples. After the initial baseline assessment, optional follow-up visits will occur approximately every 1 to 2 years, depending on the scientific needs of the study team and the participant s clinical status and interest.
Objectives:
Primary Objectives:
Secondary Objectives:
Exploratory Objectives:
Endpoints:
Primary Endpoints:
Secondary Endpoints:
Exploratory Endpoint:
1. Identification of genes that may lead to mucosal ulcerative disease when mutated or over/underexpressed.
1,997 studies on the registry are indexed under Myelodysplastic Syndromes; 324 are open to participants now.
This study's planned enrollment of 750 is above the median of 150 across 214 observational studies indexed under Myelodysplastic Syndromes.
Browse Myelodysplastic Syndromes studies →National Institute of Allergy and Infectious Diseases (NIAID) is the lead sponsor of 2,446 studies on the registry; 179 are open to participants now.
Of its 405 completed or terminated interventional studies of FDA-regulated products, 302 (75%) have results posted.
Counted across the registry records on this site, refreshed daily.
Outside provider referral, current NIH study patients
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
To be eligible to participate in this study, an individual must meet the following criteria:
Additional Inclusion Criteria for Affected Participants
Must have one of the following:
Additional Inclusion Criteria for Biological Relatives
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 agents. Participants will be asked about their participation in other studies to ensure that blood draws do not exceed NIH limits for research protocols.
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Investigational drug or device
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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 members of enrolled participants.
Clinical characterization of participants with trisomy 8 mosaicism and related disorders based on history, physical examination, radiologic imaging, and laboratory testing.
Characterize the clinical spectrum and natural history of trisomy 8 mosaicism and related disorders.
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
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 including, but not limited to immune cell phenotyping, transcriptomics, proteomics, and ex vivo functional studies.
Time frame: Length of the study
Characterization of laboratory, radiologic examinations, biopsies, and physical exam findings.
Determine appropriate screening and diagnostic workup of individuals with trisomy 8 mosaicism and related disorders.
Time frame: Length of study
Identification of individuals with trisomy 8 who develop malignancy and assessment of risk factors including but not limited to history, findings on bone marrow biopsies and CBCs, NGS for risk variants, and flow cytometry.
Identify the long-term risk of and association with neoplasm among individuals with trisomy 8 mosaicism.
Time frame: Length of study
Determination of the percentage of trisomy 8 cells in various tissue types including bone marrow, blood, fibroblasts cultured from skin, and biopsy samples, and the association with clinical phenotype.
Characterize the distribution of trisomy 8 cells in different tissues and cell types and describe how this contributes to disease manifestations and variability.
Time frame: Length of study
Assessment of treatment response based on inflammatory markers, clinical history, and physical exam findings.
Identify effective treatments for inflammatory symptoms among those with trisomy 8 mosaicism and related disorders.
Time frame: Length of study
Plan to share: Yes — This study will comply with the NIH Data Management and Sharing (DMS) Policy, which applies to all new and ongoing NIH-funded research in the IRP, as of January 25, 2023, that is associated with a ZIA, with a clinical protocol that undergoes scientific review and/or will involve genomic data sharing. This study will comply with the NIH Genomic Data Sharing (GDS) Policy, which applies to all new and ongoing NIH IRP-funded research, as of August 31, 2015, that generates large-scale human or non-human genomic data, as well as the use of these data for subsequent research. Large-scale data include GWAS, SNP arrays, and genome sequence, transcriptomic, epigenomic, and gene expression data.
Supporting information: Statistical analysis plan, Clinical study report, Analytic code
Time frame: Upon publication
Access criteria: Requests will be assessed by the PI. Next generation sequencing data will be deposited into public repositories.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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