Actively Recruiting
Longitudinal Study of Individuals and Families With Aberrations in DDX41 or Similar Cancer Predisposition Variants
Led by National Cancer Institute (NCI) · Updated on 2026-04-30
510
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying hereditary hematopoietic malignancy (HHM) syndromes, which are inherited disorders that increase the risk of blood cancers like myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This observational study focuses on people with genetic changes in the DDX41 gene and similar variants that may lead to these diseases. The goal is to better understand how these genetic factors influence the development and progression of blood cancers over time. Participants include individuals with confirmed DDX41 or other HHM gene variants and their relatives. Those aged 3 years and older will have an initial clinic visit with annual follow-ups, including physical exams, blood and urine tests, questionnaires about health and family history, and possibly bone marrow biopsies. Participants younger than 3 years or unable to visit the clinic may provide samples locally and be contacted remotely. The study includes multiple groups based on genetic variant status and disease history. During the study, researchers will collect samples like saliva, stool, nails, and skin, along with clinical assessments of participants' daily activity abilities. For those with DDX41 gene changes, yearly contact will continue for up to 10 years to monitor health and collect new test results or samples. The primary outcome measured is event-free survival over 10 years. The study also aims to identify other genetic mutations that may affect disease severity or progression, with ongoing monitoring and optional clinic visits as needed.
CONDITIONS
Brief Title
Study of Individuals and Families With Aberrations in DDX41 or Similar Cancer Predisposition Variants
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Age greater than 1 month old
- History of genetic changes affecting the DDX41 gene, RNA, or protein (Cohorts 1-2)
- History of genetic changes in another hereditary hematopoietic malignancy (HHM) variant (Cohort 3)
- No known HHM variants but with a first or second degree relative with confirmed or suspected HHM variant(s) (Cohort 4)
- Have a healthcare provider outside of NIH who manages participant care and diagnostic findings
- Ability to understand and willingness to sign a consent form
You will not qualify if you...
- None listed in the study criteria; no specific exclusion criteria applied to participants
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Baseline
Participants undergo diagnostic testing as part of routine care and research analyses to understand hereditary hematopoietic malignancy variants and their effects.
1 visit (in-person)
Duration - Up to 10 years
Participants are followed approximately annually to assess health status, survival, and disease progression related to hereditary hematopoietic malignancy variants.
Annual visits for up to 10 years
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
R
Rebecca B Alexander
S
Sung-Yun Pai, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
4
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