Trisomy 8 MosaicismNCT07683104
Natural History of Trisomy 8-Associated Autoinflammatory Disease (TRIAD) and Related Disorders
An observational study of Trisomy 8 Mosaicism and Trisomy 8 Associated Autoinflammatory Disease, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 day to 99 years
- Conditions the study is for
- Trisomy 8 Mosaicism, Trisomy 8 Associated Autoinflammatory Disease, Mucosal Ulcerations
- How many people
- 750 participants
- Where
- 1 siteUnited States
- Study dates
- 11 Nov 2026to 1 Jun 2056
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 day to 99 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Outside provider referral, current NIH study patients
Who may be able to join
- To be eligible to participate in this study, an individual must meet the following criteria:
- 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.
- Additional Inclusion Criteria for Affected Participants
- Must have one of the following:
Show all 13Show fewer
- 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
- Inflammatory mucosal ulcerative disease clinically similar to TRIAD at the discretion of the principal investigator.
- Ability of participant or LAR to provide informed consent.
- Additional Inclusion Criteria for Biological Relatives
- Be an unaffected biological relative of an affected participant.
- Ability to provide informed consent.
- Willingness to provide at least one biospecimen.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
Laura Failla, M.S., 240-669-5323, laura.failla@nih.gov
Kalpana Manthiram, M.D., (301) 529-4787, kalpana.manthiram@nih.gov
About this study
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.
Read more
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.
Read the detailed description
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:
- Characterize the clinical spectrum and natural history of trisomy 8 mosaicism and related disorders.
- Characterize the immunologic profile in blood, tissue, and bone marrow of participants with trisomy 8 mosaicism and related disorders.
Secondary Objectives:
- Determine appropriate screening and diagnostic workup of individuals with trisomy 8 mosaicism and related disorders.
- Identify the long-term risk of and association with neoplasm among individuals with trisomy 8 mosaicism.
- Characterize the distribution of trisomy 8 cells in different tissues and cell types and describe how this contributes to disease manifestations and variability.
- Evaluate or characterize immune responses to targeted therapeutics to better understand the pathophysiology of trisomy 8 mosaicism and related disorders.
Exploratory Objectives:
- Identify the specific genes and immunologic pathways that lead to disease manifestations seen in patients with trisomy 8.
- Identify new genetic diseases that lead to mucosal ulcers and understand the immunologic mechanisms that contribute to mucosal ulcerations.
Endpoints:
Primary Endpoints:
- Clinical characterization of participants with trisomy 8 mosaicism and related disorders based on history, physical examination, radiologic imaging, and laboratory testing.
- 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.
Secondary Endpoints:
- Characterization of laboratory, radiologic, biopsy, and physical exam findings.
- 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 complete blood counts (CBCs), next-generation sequencing (NGS) for risk variants, and flow cytometry.
- 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.
- Assessment of immune response to therapeutics based on inflammatory markers, clinical history, and physical exam findings.
Exploratory Endpoint:
- Identification of genes that may lead to mucosal ulcerative disease when mutated or over/underexpressed.
- Keywords
- Genital Ulcers, Myelodysplastic Syndromes, Mucosal ulcerations, Recurrent fever, Oral aphthous ulcers, Autoinflammatory disease, Trisomy 8 mosaicism
- Medical subject headings
- Chromosome 8, mosaic trisomy, Myelodysplastic Syndromes, Relapsing Fever, Foot-and-Mouth Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: Length of the study
Secondary outcomes (4)
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: Length of study
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Jul 2026
- Study start11 Nov 2026 (estimated)
- Primary completion1 May 2056 (estimated)
- Study completion1 Jun 2056 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (14)Papers the sponsor has linked to this study.
- Other trials for Trisomy 8 MosaicismStudies of the same condition, open and under way.
- More trials run by National Institute of Allergy and Infectious Diseases (NIAID)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 750 participants (estimated)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Kalpana Manthiram, M.D., Principal investigator, National Institute of Allergy and Infectious Diseases (NIAID)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07683104
- Sponsor's protocol ID
- 10002326
- Other IDs
- 002326-I
- Status last verified
- 30 Sep 2026
- First submitted
- 2 Jul 2026
- Last updated
- 6 Nov 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- 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.
Publications
Ando S, Maemori M, Sakai H, Ando S, Shiraishi H, Sakai K, Ruhnke GW. Constitutional trisomy 8 mosaicism with myelodysplastic syndrome complicated by intestinal Behcet disease and antithrombin III deficiency. Cancer Genet Cytogenet. 2005 Oct 15;162(2):172-5. doi: 10.1016/j.cancergencyto.2005.01.010.
PubMed 16213367Becker K, Fitzgerald O, Green AJ, Keogan M, Newbury-Ecob R, Greenhalgh L, Withers S, Hollox EJ, Aldred PM, Armour JA. Constitutional trisomy 8 and Behcet syndrome. Am J Med Genet A. 2009 May;149A(5):982-6. doi: 10.1002/ajmg.a.32756.
PubMed 19353586Hasle H, Clausen N, Pedersen B, Bendix-Hansen K. Myelodysplastic syndrome in a child with constitutional trisomy 8 mosaicism and normal phenotype. Cancer Genet Cytogenet. 1995 Jan;79(1):79-81. doi: 10.1016/0165-4608(94)00099-w.
PubMed 7850757Altiner S, Kutlay NY, Ilhan O. Constitutional Trisomy 8 Mosaicism with Persistent Macrocytosis. Cytogenet Genome Res. 2016;150(1):35-39. doi: 10.1159/000452358. Epub 2016 Nov 12.
PubMed 27838684Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet. 1991 May;87(1):81-3. doi: 10.1007/BF01213097.
PubMed 2037286Saumell S, Sole F, Arenillas L, Montoro J, Valcarcel D, Pedro C, Sanzo C, Luno E, Gimenez T, Arnan M, Pomares H, De Paz R, Arrizabalaga B, Jerez A, Martinez AB, Sanchez-Castro J, Rodriguez-Gambarte JD, Raya JM, Rios E, Rodriguez-Rivera M, Espinet B, Florensa L. Trisomy 8, a Cytogenetic Abnormality in Myelodysplastic Syndromes, Is Constitutional or Not? PLoS One. 2015 Jun 12;10(6):e0129375. doi: 10.1371/journal.pone.0129375. eCollection 2015.
PubMed 26066831Maserati E, Aprili F, Vinante F, Locatelli F, Amendola G, Zatterale A, Milone G, Minelli A, Bernardi F, Lo Curto F, Pasquali F. Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases. Genes Chromosomes Cancer. 2002 Jan;33(1):93-7. doi: 10.1002/gcc.1214.
PubMed 11746991Baidas S, Chen TJ, Kolev V, Wong LJ, Imholte J, Qin N, Meck J. Constitutional trisomy 8 mosaicism due to meiosis II non-disjunction in a phenotypically normal woman with hematologic abnormalities. Am J Med Genet A. 2004 Feb 1;124A(4):383-7. doi: 10.1002/ajmg.a.20390.
PubMed 14735586Seghezzi L, Maserati E, Minelli A, Dellavecchia C, Addis P, Locatelli F, Angioni A, Balloni P, Miano C, Cavalli P, Danesino C, Pasquali F. Constitutional trisomy 8 as first mutation in multistep carcinogenesis: clinical, cytogenetic, and molecular data on three cases. Genes Chromosomes Cancer. 1996 Oct;17(2):94-101. doi: 10.1002/(SICI)1098-2264(199610)17:23.0.CO;2-W.
PubMed 8913726Manthiram K, Preite S, Dedeoglu F, Demir S, Ozen S, Edwards KM, Lapidus S, Katz AE; Genomic Ascertainment Cohort; Feder HM Jr, Lawton M, Licameli GR, Wright PF, Le J, Barron KS, Ombrello AK, Barham B, Romeo T, Jones A, Srinivasalu H, Mudd PA, DeBiasi RL, Gul A, Marshall GS, Jones OY, Chandrasekharappa SC, Stepanovskiy Y, Ferguson PJ, Schwartzberg PL, Remmers EF, Kastner DL. Common genetic susceptibility loci link PFAPA syndrome, Behcet's disease, and recurrent aphthous stomatitis. Proc Natl Acad Sci U S A. 2020 Jun 23;117(25):14405-14411. doi: 10.1073/pnas.2002051117. Epub 2020 Jun 9.
PubMed 32518111Wesner N, Drevon L, Guedon A, Fraison JB, Trad S, Kahn JE, Aouba A, Gillard J, Ponsoye M, Hanslik T, Gourguechon C, Liozon E, Laribi K, Rossignol J, Hermine O, Ades L, Carrat F, Fenaux P, Mekinian A, Fain O; GFM, MINHEMON (French Network of Dysimmune Disorders Associated to Hemopathies). Inflammatory disorders associated with trisomy 8-myelodysplastic syndromes: French retrospective case-control study. Eur J Haematol. 2019 Jan;102(1):63-69. doi: 10.1111/ejh.13174. Epub 2018 Nov 14.
PubMed 30218579Wesner N, Drevon L, Guedon A, Fraison JB, Terrier B, Trad S, Kahn JE, Aouba A, Gillard J, Ponsoye M, Hanslik T, Gourguechon C, Liozon E, Laribi K, Rossignol J, Hermine O, Seksik P, Ades L, Carrat F, Fenaux P, Mekinian A, Fain O; On behalf GFM and MINHEMON (French Network of dysimmune disorders associated with hemopathies). Gastrointestinal Behcet's-like disease with myelodysplastic neoplasms with trisomy 8: a French case series and literature review. Leuk Lymphoma. 2019 Jul;60(7):1782-1788. doi: 10.1080/10428194.2018.1542152. Epub 2018 Nov 20.
PubMed 30457024Ades L, Itzykson R, Fenaux P. Myelodysplastic syndromes. Lancet. 2014 Jun 28;383(9936):2239-52. doi: 10.1016/S0140-6736(13)61901-7. Epub 2014 Mar 21.
PubMed 24656536Garcia-Manero G, Chien KS, Montalban-Bravo G. Myelodysplastic syndromes: 2021 update on diagnosis, risk stratification and management. Am J Hematol. 2020 Nov;95(11):1399-1420. doi: 10.1002/ajh.25950.
PubMed 32744763
Study at a glance
From the registry record, last updated by the sponsor on 6 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History of Trisomy 8-Associated Autoinflammatory Disease (TRIAD) and Related Disorders
- ClinicalTrials.gov ID
- NCT07683104
- Acronym / sponsor ID
- 10002326
- Keywords
- Genital Ulcers, Myelodysplastic Syndromes, Mucosal ulcerations, Recurrent fever, Oral aphthous ulcers, Autoinflammatory disease, Trisomy 8 mosaicism
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 750 participants (estimated)
- Lead sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)US National Institutes of Health
- Study start
- 11 Nov 2026 (estimated)
- Primary completion
- 1 May 2056 (estimated)
- Study completion
- 1 Jun 2056 (estimated)
- First posted
- 6 Jul 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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:
- Characterize the clinical spectrum and natural history of trisomy 8 mosaicism and related disorders.
- Characterize the immunologic profile in blood, tissue, and bone marrow of participants with trisomy 8 mosaicism and related disorders.
Secondary Objectives:
- Determine appropriate screening and diagnostic workup of individuals with trisomy 8 mosaicism and related disorders.
- Identify the long-term risk of and association with neoplasm among individuals with trisomy 8 mosaicism.
- Characterize the distribution of trisomy 8 cells in different tissues and cell types and describe how this contributes to disease manifestations and variability.
- Evaluate or characterize immune responses to targeted therapeutics to better understand the pathophysiology of trisomy 8 mosaicism and related disorders.
Exploratory Objectives:
- Identify the specific genes and immunologic pathways that lead to disease manifestations seen in patients with trisomy 8.
- Identify new genetic diseases that lead to mucosal ulcers and understand the immunologic mechanisms that contribute to mucosal ulcerations.
Endpoints:
Primary Endpoints:
- Clinical characterization of participants with trisomy 8 mosaicism and related disorders based on history, physical examination, radiologic imaging, and laboratory testing.
- 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.
Secondary Endpoints:
- Characterization of laboratory, radiologic, biopsy, and physical exam findings.
- 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 complete blood counts (CBCs), next-generation sequencing (NGS) for risk variants, and flow cytometry.
- 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.
- Assessment of immune response to therapeutics based on inflammatory markers, clinical history, and physical exam findings.
Exploratory Endpoint:
- Identification of genes that may lead to mucosal ulcerative disease when mutated or over/underexpressed.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 1 day to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Outside provider referral, current NIH study patients
Key inclusion criteria (13 listed)
- To be eligible to participate in this study, an individual must meet the following criteria:
- 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.
- Additional Inclusion Criteria for Affected Participants
Key exclusion criteria (2 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
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
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 including, but not limited to immune cell phenotyping, transcriptomics, proteomics, and ex vivo functional studies.
4 secondary outcomes
Characterization of laboratory, radiologic examinations, biopsies, and physical exam findings.
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.
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.
Time frame: Length of study
Assessment of treatment response based on inflammatory markers, clinical history, and physical exam findings.
Time frame: Length of study
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Nov 2026.
- Background: PubMed 16213367Ando S, Maemori M, Sakai H, Ando S, Shiraishi H, Sakai K, Ruhnke GW. Constitutional trisomy 8 mosaicism with myelodysplastic syndrome complicated by intestinal Behcet disease and antithrombin III deficiency. Cancer Genet Cytogenet. 2005 Oct 15;162(2):172-5. doi: 10.1016/j.cancergencyto.2005.01.010.
- Background: PubMed 19353586Becker K, Fitzgerald O, Green AJ, Keogan M, Newbury-Ecob R, Greenhalgh L, Withers S, Hollox EJ, Aldred PM, Armour JA. Constitutional trisomy 8 and Behcet syndrome. Am J Med Genet A. 2009 May;149A(5):982-6. doi: 10.1002/ajmg.a.32756.
- Background: PubMed 7850757Hasle H, Clausen N, Pedersen B, Bendix-Hansen K. Myelodysplastic syndrome in a child with constitutional trisomy 8 mosaicism and normal phenotype. Cancer Genet Cytogenet. 1995 Jan;79(1):79-81. doi: 10.1016/0165-4608(94)00099-w.
- Background: PubMed 27838684Altiner S, Kutlay NY, Ilhan O. Constitutional Trisomy 8 Mosaicism with Persistent Macrocytosis. Cytogenet Genome Res. 2016;150(1):35-39. doi: 10.1159/000452358. Epub 2016 Nov 12.
- Background: PubMed 2037286Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet. 1991 May;87(1):81-3. doi: 10.1007/BF01213097.
- Background: PubMed 26066831Saumell S, Sole F, Arenillas L, Montoro J, Valcarcel D, Pedro C, Sanzo C, Luno E, Gimenez T, Arnan M, Pomares H, De Paz R, Arrizabalaga B, Jerez A, Martinez AB, Sanchez-Castro J, Rodriguez-Gambarte JD, Raya JM, Rios E, Rodriguez-Rivera M, Espinet B, Florensa L. Trisomy 8, a Cytogenetic Abnormality in Myelodysplastic Syndromes, Is Constitutional or Not? PLoS One. 2015 Jun 12;10(6):e0129375. doi: 10.1371/journal.pone.0129375. eCollection 2015.
- Background: PubMed 11746991Maserati E, Aprili F, Vinante F, Locatelli F, Amendola G, Zatterale A, Milone G, Minelli A, Bernardi F, Lo Curto F, Pasquali F. Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases. Genes Chromosomes Cancer. 2002 Jan;33(1):93-7. doi: 10.1002/gcc.1214.
- Background: PubMed 14735586Baidas S, Chen TJ, Kolev V, Wong LJ, Imholte J, Qin N, Meck J. Constitutional trisomy 8 mosaicism due to meiosis II non-disjunction in a phenotypically normal woman with hematologic abnormalities. Am J Med Genet A. 2004 Feb 1;124A(4):383-7. doi: 10.1002/ajmg.a.20390.
- Background: PubMed 8913726Seghezzi L, Maserati E, Minelli A, Dellavecchia C, Addis P, Locatelli F, Angioni A, Balloni P, Miano C, Cavalli P, Danesino C, Pasquali F. Constitutional trisomy 8 as first mutation in multistep carcinogenesis: clinical, cytogenetic, and molecular data on three cases. Genes Chromosomes Cancer. 1996 Oct;17(2):94-101. doi: 10.1002/(SICI)1098-2264(199610)17:23.0.CO;2-W.
- Background: PubMed 32518111Manthiram K, Preite S, Dedeoglu F, Demir S, Ozen S, Edwards KM, Lapidus S, Katz AE; Genomic Ascertainment Cohort; Feder HM Jr, Lawton M, Licameli GR, Wright PF, Le J, Barron KS, Ombrello AK, Barham B, Romeo T, Jones A, Srinivasalu H, Mudd PA, DeBiasi RL, Gul A, Marshall GS, Jones OY, Chandrasekharappa SC, Stepanovskiy Y, Ferguson PJ, Schwartzberg PL, Remmers EF, Kastner DL. Common genetic susceptibility loci link PFAPA syndrome, Behcet's disease, and recurrent aphthous stomatitis. Proc Natl Acad Sci U S A. 2020 Jun 23;117(25):14405-14411. doi: 10.1073/pnas.2002051117. Epub 2020 Jun 9.
- Background: PubMed 30218579Wesner N, Drevon L, Guedon A, Fraison JB, Trad S, Kahn JE, Aouba A, Gillard J, Ponsoye M, Hanslik T, Gourguechon C, Liozon E, Laribi K, Rossignol J, Hermine O, Ades L, Carrat F, Fenaux P, Mekinian A, Fain O; GFM, MINHEMON (French Network of Dysimmune Disorders Associated to Hemopathies). Inflammatory disorders associated with trisomy 8-myelodysplastic syndromes: French retrospective case-control study. Eur J Haematol. 2019 Jan;102(1):63-69. doi: 10.1111/ejh.13174. Epub 2018 Nov 14.
- Background: PubMed 30457024Wesner N, Drevon L, Guedon A, Fraison JB, Terrier B, Trad S, Kahn JE, Aouba A, Gillard J, Ponsoye M, Hanslik T, Gourguechon C, Liozon E, Laribi K, Rossignol J, Hermine O, Seksik P, Ades L, Carrat F, Fenaux P, Mekinian A, Fain O; On behalf GFM and MINHEMON (French Network of dysimmune disorders associated with hemopathies). Gastrointestinal Behcet's-like disease with myelodysplastic neoplasms with trisomy 8: a French case series and literature review. Leuk Lymphoma. 2019 Jul;60(7):1782-1788. doi: 10.1080/10428194.2018.1542152. Epub 2018 Nov 20.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: 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.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Kalpana Manthiram, M.D. principal investigator
National Institute of Allergy and Infectious Diseases (NIAID)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Trisomy 8 Mosaicism and Trisomy 8 Associated Autoinflammatory Disease, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 13 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 6 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Laura E Failla, C.R.N.P. ((240) 669-5323, laura.failla@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the 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). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07683104, which also lists 14 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Nov 2026.