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Study of Individuals and Families With Aberrations in DDX41 or Similar Cancer Predisposition Variants

Recruitingn/aAges 1 Month - 120 YearsAllNational Cancer Institute (NCI)
NCT07019155 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

Background: Hereditary hematopoietic malignancy (HHM) syndromes are a group of inherited disorders that raises the risk of blood cancers. Many people with HHMs have changes in a gene (DDX41) that makes it more likely that they will develop myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), or other cancers. This natural history study will explore the link between HHM syndromes and these diseases. Objective: To study the link between HHM and MDS/AML. Eligibility: People aged 1 month and older with HHM. Relatives with HHM are also needed. Design: Participants aged 3 years and older will have 1 initial clinic visit with the option to follow-up annually. They will undergo these procedures: They will have a physical exam with blood and urine tests. They may give samples of saliva, stool, nails, and skin. Their ability to do normal activities will be reviewed. Some may ha

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📋 Eligibility rules (as published)
* INCLUSION CRITERIA: * Age \> 1 month old. * Participants with history of aberrations that affect the DDX41 gene, DDX41 RNA, or DDX41 protein (Cohorts 1-2) OR Participants with history of aberrations in another HHM variant (Cohort 3) OR Participants with history of absence of HHM variants, who have first or second degree relative with history of confirmed or suspected HHM variant(s) per participant report (Cohort 4). * Participants must have an identified healthcare provider outside of NIH who manages participant care, and any diagnostic clinical findings provided by this study. * Ability of participant or parent/guardian to understand and the willingness to sign a written consent document. EXCLUSION CRITERIA: None.
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What it tests

  • Not listed
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Where

1 site
National Institutes of Health Clinical Center
Bethesda, United States
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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