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

Launched by NATIONAL CANCER INSTITUTE (NCI) · Jun 12, 2025

Keywords

ClinConnect Summary

This clinical trial is studying a group of inherited disorders called hereditary hematopoietic malignancy (HHM) syndromes, which increase the risk of blood cancers like myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). Researchers want to understand how changes in a specific gene called DDX41 relate to these blood cancers. The study aims to gather information about individuals and families affected by these genetic changes, as well as their relatives, to better understand the connection between HHM syndromes and these diseases.

To participate, individuals must be at least one month old and either have a known change in the DDX41 gene or another related genetic change, or have a close family member with such a change. Participants aged three and older will have an initial visit to the clinic for health check-ups and may provide various samples, while younger participants can be contacted remotely. The study will follow participants for up to ten years, checking in annually to monitor their health and gather any new information. This research is important in helping to identify those at risk and improve understanding of how these genetic conditions affect health.

Gender

ALL

Eligibility criteria

• * 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.
• EXCLUSION CRITERIA:
• • None