Individuals and families with DDX41 or similar inherited blood cancer risk variants

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is a natural history observational study enrolling people (age ≥1 month) with germline DDX41 changes, other hereditary hematopoietic malignancy (HHM) gene variants, or relatives of affected individuals. Participants aged 3 and older will have an initial clinic visit with optional annual follow-ups and routine assessments including physical exam, blood and urine testing, and reviews of daily functioning. Optional biospecimen collection may include saliva, stool, nails, skin, and in some cases bone marrow sampling to document molecular and clinical changes over time. The goal is to define the clinical course, timing of disease onset, and associated molecular events to improve identification and management of HHM-related MDS/AML.

Why it matters

Who can join: the full rules

* 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.

Where it's running

• National Institutes of Health Clinical Center
  Bethesda, Maryland, United States Recruiting

Study contacts

• Principal investigator: Sung-Yun Pai, M.D. — National Cancer Institute (NCI)
• Study coordinator: Rebecca B Alexander
• Email: rebecca.alexander@nih.gov
• Phone: (240) 781-4037

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.