An observational study in Myeloid Neoplasms (AML/MDS), sponsored by Groupe Francophone des Myelodysplasies. Not yet recruiting at 8 sites in France. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-11-10.
Sponsored by Groupe Francophone des Myelodysplasies · Observational
The preDDX registry aims to study germline genetic predispositions to myeloid neoplasms, in particular those associated with pathogenic DDX41 variants and emerging syndromes.
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.
Groupe Francophone des Myelodysplasies is the lead sponsor of 44 studies on the registry; 5 are open to participants now.
Counted across the registry records on this site, refreshed daily.
The registry includes adult patients carrying a germline variant associated with a predisposition to myeloid neoplasms and their biological relatives, where relevant.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Patients and carriers of pathogenic DDX41 variants: cohort dedicated to the study of patients and relatives carrying DDX41 variants.
Cohort dedicated to the study of candidate genes and new predisposition syndromes
Age- and sex-specific cumulative incidence of myeloid neoplasms in asymptomatic carriers of a germline DDX41 variant (Main cohort)
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
Time frame: From inclusion up to 5 years (end of registry)
Number of new hereditary syndromes predisposing to myeloid neoplasms identified and characterized (Exploratory cohort)
Identification and clinical, biological and genetic characterization of new germline predisposition syndromes, based on variants in candidate genes classified according to ACMG criteria
Time frame: Through registry completion, up to 5 years
Factors associated with onset and progression of myeloid neoplasms in germline DDX41 variant carriers (Main cohort)
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.
Time frame: From inclusion up to 5 years
Frequency of hematological and extra-hematological manifestations in germline DDX41 variant carriers (Main cohort)
Proportion of participants with each phenotype: myeloid neoplasms, extra-hematological manifestations and other associated entities
Time frame: At inclusion and up to 5 years
Response to treatment and overall survival in patients with DDX41-associated MDS or AML (Main cohort)
Response rates according to standard disease-specific response criteria, and overall survival
Time frame: From inclusion up to 5 years
Penetrance of germline variants identified in candidate genes (Exploratory cohort)
Age-specific cumulative risk of myeloid neoplasms among carriers of variants in candidate genes
Time frame: From inclusion up to 5 years
Clonal evolution in carriers of germline variants in candidate genes (Exploratory cohort)
Description of tumor evolution and trajectories: type and timing of acquired somatic and cytogenetic events and progression to MDS/AML
Time frame: From inclusion up to 5 years
Proportion of candidate-gene variants with functional evidence of pathogenicity (Exploratory cohort)
Functional significance of variants assessed by biological analyses and functional assays
Time frame: Through registry completion, up to 5 years
Plan to share: Undecided — Sharing of pseudonymized individual data may be considered on reasoned request to the sponsor, subject to scientific review, GDPR compliance and applicable French regulations.
No publications or documents are linked to this record.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
This study is not yet recruiting, as verified in Nov 2026. You cannot join it, but the record below documents what was studied.
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Groupe Francophone des Myelodysplasies