Study of Individuals and Families With Aberrations in DDX41 or Similar Cancer Predisposition Variants
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age1-120
SponsorNational Cancer Institute (NCI)
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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.
Disqualifiers
None
Trial population
Participants with aberrations in DDX41 or other HHMs and relatives of individuals with aberrations in DDX41 or other HHMs.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
510 Participants
are grouped into 4 trial groupsGroup A: Cohort 1
Group B: Cohort 2
Group C: Cohort 3
Group D: Cohort 4
Trial outcomes
Primary outcomes
1
To estimate the EFS in individuals with DEAD-box helicase 41 (DDX41) aberrations
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.
Time frame
Up to 10 yearsSecondary outcomes
1
To define the OS in individuals with DDX41 aberrations
Describe the overall survival of participants for Cohorts 1 and 2 separately utilizing Kaplan-Meier plots. Five and 10-year OS will be reported, along with 95% confidence intervals.
Time frame
Up to 10 years2
To identify secondary commonly co-mutated somatic or germline variants as well as underrepresented mutations that may impact clinical presentation, disease severity, progression to malignancies.
Co-mutations will be descriptively tabulated. The proportion of participants with each co-mutation will be described for Cohorts 1, 2, 3, and 4 separately, along with 95% confidence intervals per the exact Clopper-Pearson method.
Time frame
Up to 10 yearsSponsors and contacts
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Source ClinicalTrials.gov