Natural History Study of Individuals and Families with DDX41 and Similar Genetic Variants Associated with Blood Cancers Including MDS and AML

What this Trial Is About

This research aims to explore the connection between hereditary hematopoietic malignancy HHM syndromes and blood cancers such as myelodysplastic syndrome MDS and acute myeloid leukemia AML. It focuses particularly on genetic changes in the DDX41 gene and similar variants that increase the risk of developing these cancers. The study also seeks to understand the biology of these genetic variants and how they may affect disease progression and treatment outcomes. Participants include those aged 1 month and older with confirmed aberrations in the DDX41 gene, DDX41 RNA, or protein, or other HHM variants. Relatives of individuals with these aberrations are also included. The study involves an initial clinic visit for participants aged 3 years and older, with optional annual follow-ups. Participants undergo physical exams, blood and urine tests, and may provide samples such as saliva, stool, nails, and skin. Some may have bone marrow biopsies, and health and family history questionnaires are completed. Participants younger than 3 years or unable to visit the clinic may be contacted remotely with sample collection arranged locally. Researchers will monitor participants over up to 10 years, annually checking health status and collecting new test results, especially for those with DDX41 gene changes. The study measures event-free survival and overall survival, as well as genetic factors that may influence disease progression. Participants may be asked to return to the clinic for additional assessments as needed. This long-term monitoring aims to better define the risk and progression of blood cancers related to these genetic variants.

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