NCT07683104Toboroz
Natural History of Trisomy 8-Associated Autoinflammatory Disease (TRIAD) and Related Disorders
Forrás: ClinicalTrials.gov · Utoljára frissítve: 2026. nov. 6.
Rövid összefoglaló (regiszter, angolul)
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.
- Állapot (regiszter)
- Toboroz
- Vizsgálattípus
- Megfigyeléses
- Résztvevők száma
- 750 (tervezett)
- Első benyújtás
- 2026. júl. 2.
- Kezdés
- 2026. nov. 11.
- Elsődleges befejezés
- 2056. máj. 1.
- Fő szponzor
- National Institute of Allergy and Infectious Diseases (NIAID)
- Betegségek
- Mielodiszplasztikus szindróma (MDS)
- NCT-szám
- NCT07683104
Mit vállalsz
- Vizsgálat típusa: Megfigyeléses
- Tervezett résztvevők: 750
- 2026. nov. 11. és az elsődleges befejezés (2056. máj. 1.) között
- 1 helyszín, 1 országban
- Vizitek és vizsgálatok: kérdezd a vizsgálat csapatát, a regiszter nem sorolja fel őket
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Korábbi kezelés
- 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.
Más betegség
- 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.
A regiszterben nem jelölt feltételek
- INCLUSION CRITERIA:
- 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:
- 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.
Életkor a regiszterben: 1 nap – 99 év · Nem: nők és férfiak · Egészséges önkénteseket nem fogad
Helyszínek (1)
Helyszínek a regiszter sorrendjében. Ha a profilodba mented a városodat, távolság szerint rendeződnek.
| Helyszín | Város | Ország | Helyszín állapota |
|---|---|---|---|
| National Institutes of Health Clinical Center Ennek a helyszínnek vagy a koordinátora? Erősítsd meg az állapotát | Bethesda | Egyesült Államok | Toboroz |
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