NCT07019155Recruiting
Study of Individuals and Families With Aberrations in DDX41 or Similar Cancer Predisposition Variants
Longitudinal Study of Individuals and Families With Aberrations in DDX41 or Similar Cancer Predisposition Variants
Source: ClinicalTrials.gov · Last updated 16 Oct 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 510 (estimated)
- First submitted
- 12 Jun 2025
- Start date
- 24 Jul 2025
- Primary completion date
- 15 Jun 2035
- Lead sponsor
- National Cancer Institute (NCI)
- NCT number
- NCT07019155
What you commit to
- Study type: Observational
- Planned participants: 510
- From 24 Jul 2025 to the primary completion date, 15 Jun 2035
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other
- None.
Criteria the registry did not label
- 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.
Age in the registry: 1 month to 120 years · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| National Institutes of Health Clinical Center Coordinator of this site? Confirm its status | Bethesda | United States | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.