Study of Individuals and Families With Aberrations in DDX41 or Similar Cancer Predisposition Variants
This is not medical advice. AI-assisted translation — inaccuracies may occur. Always verify the original and consult your oncologist before taking any steps.
About the trial
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 have a bone marrow biopsy: A tissue sample will be drawn from inside a bone. They may answer questions about their health and family medical history. Participants younger than 3 years, and those who cannot come to the clinic, will be contacted by phone or email. Their samples may be collected locally and sent to researchers. For participants who have changes in their DDX41 gene: Researchers will contact them or their primary care provider once a year for 10 years. Researchers will check on participants health and collect any new test results. Some may be asked to send new samples. Participants who do not have changes in their DDX41 gene may be contacted yearly, or less often, for 10 years. Some participants may be asked to return to the clinic if needed.
Original English text from ClinicalTrials.gov
Who can (and can't) join
✓ Qualifies
- •Osoby w wieku od 1 miesiąca życia.
- •Osoby z rozpoznanymi problemami genetycznymi wpływającymi na gen DDX41 lub podobnymi predyspozycjami do raka krwi.
- •Osoby, których krewni (rodzice, rodzeństwo, dziadkowie) mieli potwierdzone lub podejrzewane problemy genetyczne związane z rakiem krwi.
- •Osoby, które mają swojego lekarza prowadzącego poza NIH (instytut badawczy) i zgadzają się na udostępnienie wyników badań.
- •Osoba lub jej rodzic/opiekun musi zrozumieć zasady badania i zgodzić się na udział.
Simplified criteria — AI translation
Trial details
- Minimum age
- 1 Month
- Maximum age
- 120 Years
- Last updated (source)
- July 6, 2026
- Sex
- No restrictions
Locations (1)
National Institutes of Health Clinical Center
Bethesda, United States
Trial contact
Rebecca B Alexander
Sung-Yun Pai, M.D.
Contact information from ClinicalTrials.gov. Contact in English.
Share this trial
Data from ClinicalTrials.gov. AI-assisted translation, last sync: 7/7/2026.
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