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

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

Who can join

As published by the study on ClinicalTrials.gov. "Not stated" means the study hasn't said — ask the study team.

Age
1 Month to 120 Years
Sex
All sexes
Healthy volunteers
Not accepted
Compensation
Not stated

Other requirements are listed under Eligibility below. Only the study team can confirm whether you can join.

What to expect

No one can promise a trial will help you personally — that is what the research is trying to find out.

What participation involves

  • Visits mentioned: 1 visit
  • Time periods mentioned: 10 years
  • Procedures mentioned: Urine samples, Physical exams, Biopsies

Only what the study's summary and detailed description on ClinicalTrials.gov say. Time periods may describe the whole study or a part of it — ask the study team what applies to you.

Show the study's own words
  • "Design: Participants aged 3 years and older will have 1 initial clinic visit with the option to follow-up annually."
  • "They will undergo these procedures: They will have a physical exam with blood and urine tests."
  • "Some may have a bone marrow biopsy: A tissue sample will be drawn from inside a bone."
  • "For participants who have changes in their DDX41 gene: Researchers will contact them or their primary care provider once a year for 10 years."
Compensation
Not stated
  • Study-related exams and procedures are typically provided at no cost. This is how many trials work in general — confirm the details for this study with the study team.
  • Participants are monitored closely by the research team throughout the study.
  • Some participants may receive access to an investigational treatment, which is still being studied.
  • Your participation helps researchers learn whether this approach could help future patients.

About this study

In plain language

This study looks at how inherited gene changes, such as changes in DDX41, are linked to blood cancers. It is for people older than 1 month with these changes and some close relatives without them. Researchers will track health and test results over time.

Background: Hereditary hematopoietic malignancy (HHM) syndromes are a group of inherited disorders that raises the risk of blood cancers. Many people with HHMs have changes in a gene (DDX41) that makes it more likely that they will develop myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), or other cancers. This natural history study will explore the link between HHM syndromes and these diseases. Objective: To study the link between HHM and MDS/AML. Eligibility: People aged 1 month and older with HHM. Relatives with HHM are also needed. Design: Participants aged 3 years and older will have 1 initial clinic visit with the option to follow-up annually. They will undergo these procedures: They will have a physical exam with blood and urine tests. They may give samples of saliva, stool, nails, and skin. Their ability to do normal activities will be reviewed. Some may have a bone marrow biopsy: A tissue sample will be drawn from inside a bone. They may answer questions about their health and family medical history. Participants younger than 3 years, and those who cannot come to the clinic, will be contacted by phone or email. Their samples may be collected locally and sent to researchers. For participants who have changes in their DDX41 gene: Researchers will contact them or their primary care provider once a year for 10 years. Researchers will check on participants health and collect any new test results. Some may be asked to send new samples. Participants who do not have changes in their DDX41 gene may be contacted yearly, or less often, for 10 years. Some participants may be asked to return to the clinic if needed.

Compensation is read from the study's own description and may be missing — always confirm with the study team.

Eligibility

Who can join

  • Must be older than 1 month.
  • Must have a known change affecting the DDX41 gene, its RNA (a cell message), or its protein; another inherited change linked to blood cancer risk; OR no such change but a close relative with a confirmed or suspected change.
  • For the relative group, the relative must be a parent, sibling, child, grandparent, grandchild, aunt, uncle, niece, nephew, or half-sibling.
  • Must have a health care provider outside NIH to manage your care and any medical findings from the study.
  • You or your parent or guardian must understand the study and agree to sign a consent form.

Who can't join

    Simplified for readability. The official criteria below are what the study team uses.

    Official 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.

    Study sites (1)

    MD