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.
Stated willingness to comply with study requirements.
Aged <= 99 (ability to be seen at NIH vs. remote visit may be determined by age and location).
Willingness to allow storage of data and specimens for future research.
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
None
Outside provider referral, current NIH study patients
Other
Prospective
Not listed
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.
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.
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.
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.
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.
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.
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