Registry of Relatives and Patients Carrying Pathogenic Germline DDX41 Variants and Emerging New Syndromes
Myeloid Neoplasms (AML/MDS)
What this study involves
The registry does not currently label this study as recruiting. Ask about its status before planning a screening visit.
- Study type
- Observational
- Phase
- Not applicable / not listed
- Age range
- 18 years - Not specified
- Sex eligible
- All sexes
- Healthy volunteers
- Accepted
- Participants
- 525 Estimated
These are starting points, not an eligibility decision. The research team must review the full requirements.
About the research
The preDDX registry aims to study germline genetic predispositions to myeloid neoplasms, in particular those associated with pathogenic DDX41 variants and emerging syndromes.
Read the full description
The preDDX registry aims to study germline genetic predispositions to myeloid neoplasms, in particular those associated with pathogenic DDX41 variants and emerging syndromes.
It includes patients and, where applicable, their relatives, with prospective collection of clinical, biological and genetic data.
It is a Category 2 Research Involving the Human Person (RIPH2), based mainly on data from routine care, with no imposed therapeutic intervention. Additional procedures with minimal risks and constraints may be performed if necessary.
The data collected will help to better characterize these predispositions and their evolution in real-world practice.
Who may be able to participate?
The list below is the sponsor’s full registry wording. It can include conditions, prior treatment, test results and other requirements. A match in search does not mean you qualify.
Inclusion Criteria:
- Male or female
- Age ≥ 18 years
- Presence of a germline variant (pathogenic, likely pathogenic or in a candidate gene)
- Followed in a participating center
- Able and willing to provide written informed consent
Exclusion Criteria:
- No identified or suspected genetic predisposition
- No consent
Study population
The registry includes adult patients carrying a germline variant associated with a predisposition to myeloid neoplasms and their biological relatives, where relevant.
Understand screeningTreatment, groups and participation
The registry may describe treatments and study duration without a complete visit calendar. Ask the study team for the exact schedule, procedures, risks, costs and alternatives. Keep your usual care plan unless your treating clinician tells you otherwise.
- Assignment
- Not reported
- Masking
- Not reported
Main cohort
Patients and carriers of pathogenic DDX41 variants: cohort dedicated to the study of patients and relatives carrying DDX41 variants.
Exploratory cohort
Cohort dedicated to the study of candidate genes and new predisposition syndromes
What researchers are measuring
Outcome measures describe what is being studied. They are not proof that a treatment works.
Primary measures
Age- and sex-specific cumulative incidence of myeloid neoplasms in asymptomatic carriers of a germline DDX41 variant (Main cohort)
Time frame: From inclusion up to 5 years (end of registry)
Hematological penetrance, estimated as the cumulative risk of developing a myeloid neoplasm (in particular MDS or AML) according to age and sex, using family-based methods that correct for ascertainment bias
Number of new hereditary syndromes predisposing to myeloid neoplasms identified and characterized (Exploratory cohort)
Time frame: Through registry completion, up to 5 years
Identification and clinical, biological and genetic characterization of new germline predisposition syndromes, based on variants in candidate genes classified according to ACMG criteria
Secondary measures
Factors associated with onset and progression of myeloid neoplasms in germline DDX41 variant carriers (Main cohort)
Time frame: From inclusion up to 5 years
Association between clinical characteristics (age, sex, comorbidities), exposures, associated germline variants and somatic events, and the occurrence or progression of myeloid neoplasms, with death as a competing event.
Frequency of hematological and extra-hematological manifestations in germline DDX41 variant carriers (Main cohort)
Time frame: At inclusion and up to 5 years
Proportion of participants with each phenotype: myeloid neoplasms, extra-hematological manifestations and other associated entities
Response to treatment and overall survival in patients with DDX41-associated MDS or AML (Main cohort)
Time frame: From inclusion up to 5 years
Response rates according to standard disease-specific response criteria, and overall survival
Penetrance of germline variants identified in candidate genes (Exploratory cohort)
Time frame: From inclusion up to 5 years
Age-specific cumulative risk of myeloid neoplasms among carriers of variants in candidate genes
Clonal evolution in carriers of germline variants in candidate genes (Exploratory cohort)
Time frame: From inclusion up to 5 years
Description of tumor evolution and trajectories: type and timing of acquired somatic and cytogenetic events and progression to MDS/AML
Proportion of candidate-gene variants with functional evidence of pathogenicity (Exploratory cohort)
Time frame: Through registry completion, up to 5 years
Functional significance of variants assessed by biological analyses and functional assays
Review the complete result tables and limitations in the official record.
Open official results ↗Research locations (8)
The overall study status and a local site’s status can differ. Confirm that location’s availability before traveling.
8 locations
Centre Hospitalier ArgenteuilArgenteuil, FranceStatus unknown
Hôpital AvicenneBobigny, FranceStatus unknown
Hôpital BicêtreLe Kremlin-Bicêtre, FranceStatus unknown
Institut CurieParis, FranceStatus unknown
Hôpital Saint LouisParis, FranceStatus unknown
Hôpital Saint-AntoineParis, FranceStatus unknown
Hôpital CochinParis, FranceStatus unknown
Institut Gustave RoussyVillejuif, FranceStatus unknown
Study team and timeline
- Lead sponsor
- Groupe Francophone des Myelodysplasies
- Study start
- Nov 15, 2026 Estimated
- Primary completion
- Nov 1, 2031 Estimated
- Study completion
- Nov 15, 2031 Estimated
- First posted
- Nov 9, 2026 Actual
- Last updated
- Nov 10, 2026 Actual
Official study contacts
Official study title
Registry of Relatives and Patients Carrying Pathogenic Germline DDX41 Variants and Emerging New Syndromes
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Source: ClinicalTrials.gov API v2. Information is submitted by sponsors and investigators. NLM does not approve the safety or science of all listed studies. Registry disclaimer.
Retrieved: Nov 12, 2026 · Last registry update: Nov 10, 2026