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Study of DDX41 and Other Cancer Predisposition Variants

This study is looking at the connection between inherited conditions that increase the risk of blood cancers (Hereditary Hematopoietic Malignancy or HHM syndromes) and diseases like myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). Specifically, it focuses on changes in a gene called DDX41, which is known to make these cancers more likely. You might be able to join if you are at least 1 month old and have a history of changes in the DDX41 gene, or other HHM variants. Relatives of people with HHM variants are also needed. The main goal is to understand how long people with DDX41 changes live without their cancer getting worse, over a period of up to 10 years.

Study design
This is an observational study, meaning researchers will watch and collect information without giving any specific treatments. It plans to enroll 510 participants.
What's involved
If you are 3 years or older, you will have one initial clinic visit, with the option for annual follow-up visits. These visits will include a physical exam, blood tests, and urine tests.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed for up to 10 years to measure how long they live without their cancer getting worse.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT07019155

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

Recruiting
Not specifiedAges 1+Observational
National Cancer Institute (NCI)
~510 participants
Updated 2026-07-06 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
To estimate the EFS in individuals with DEAD-box helicase 41 (DDX41) aberrations
Measured over Up to 10 years

Conditions

Germline Mutation
Myelodysplastic Syndromes
Acute Myeloid Leukemia

Explore related trials

Acute Myeloid LeukemiaGermline Predisposition SyndromesMyelodysplastic Syndrome

Where it's being run

1 sites across 1 states
Maryland1

Study leadership

  • Sung-Yun Pai, M.D. · PRINCIPAL_INVESTIGATOR · National Cancer Institute (NCI)

Who to contact

Rebecca B Alexander
[email protected]
(240) 781-4037
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Age \> 1 month old.
Participants with history of aberrations that affect the DDX41 gene, DDX41 RNA, or DDX41 protein (Cohorts 1-2)
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.

What this trial measures

  • To estimate the EFS in individuals with DEAD-box helicase 41 (DDX41) aberrationsUp to 10 years

    Describe the EFS separately for Cohort 1 and Cohort 2. Kaplan-Meier plots will be generated, five and 10-year EFS will be reported, along with 95% confidence intervals for each Cohort separately.