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

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
National Cancer Institute (NCI)
Study ID
NCT07019155
Status
Recruiting
Apply to this trial

Conditions

Eligibility Criteria

Sex
ALL
Age
1 Month - 120 Years
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

Start date
Jul 24, 2025
Status verified
Apr 2026
Primary completion
Jun 15, 2035
Completion
Jun 15, 2035

Study Design

Enrollment
510 participants (estimated)

Arms

  • Arm: Cohort 1
    Participants with confirmed aberrations that affect the DDX41 gene, DDX41 RNA, or DDX41 protein and who have a history of MDS/MPN/AML diagnosis
  • Arm: Cohort 2
    Participants with confirmed aberrations that affect the DDX41 gene, DDX41 RNA, or DDX41 protein and who do NOT have history of MDS/MPN/AML
  • Arm: Cohort 3
    Participants with confirmed aberrations in another HHM variant
  • Arm: Cohort 4
    Participants with confirmed absence of known HHM variants, and who have first or second degree relative with confirmed or suspected HHM variant(s) (control group)

Primary Outcome Measure

To estimate the EFS in individuals with DEAD-box helicase 41 (DDX41) aberrations [ Time Frame: Up to 10 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892
National Cancer Institute Referral Office
[email protected]
888-624-1937

Find similar trials in Bethesda, MD

By condition
Leukemia (other)
By specialty
OncologyBlood cancer
By research site
National Institutes of Health Clinical Center· Bethesda, MD

Related Studies