Registry of Relatives and Patients Carrying Pathogenic Germline DDX41 Variants and Emerging New Syndromes
NCT07925697, Not yet recruiting, Groupe Francophone des Myelodysplasies
Trial 8
As registered on ClinicalTrials.gov, in the graph's capture of the registry.
| Field | Value | Source |
|---|---|---|
| Title | Registry of Relatives and Patients Carrying Pathogenic Germline DDX41 Variants and Emerging New Syndromes | ClinicalTrials.gov |
| NCT number | NCT07925697 | ClinicalTrials.gov |
| Status | Not yet recruiting | ClinicalTrials.gov |
| Enrollment | 525 participants, estimated | ClinicalTrials.gov |
| Lead sponsor | Groupe Francophone des Myelodysplasies | ClinicalTrials.gov |
| Conditions | Myeloid Neoplasms (AML/MDS) | ClinicalTrials.gov |
| First posted | 2026-11-09 | ClinicalTrials.gov |
| Last updated | 2026-11-10 | ClinicalTrials.gov |
Registered outcomes 8
Each outcome the trial registered, primary first, in ClinicalTrials.gov's words.
| List | Outcome | Time frame | Description | Source |
|---|---|---|---|---|
| Primary | Age- and sex-specific cumulative incidence of myeloid neoplasms in asymptomatic carriers of a germline DDX41 variant (Main cohort) | 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 | ClinicalTrials.gov |
| Primary | Number of new hereditary syndromes predisposing to myeloid neoplasms identified and characterized (Exploratory cohort) | 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 | ClinicalTrials.gov |
| Secondary | Factors associated with onset and progression of myeloid neoplasms in germline DDX41 variant carriers (Main cohort) | 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. | ClinicalTrials.gov |
| Secondary | Frequency of hematological and extra-hematological manifestations in germline DDX41 variant carriers (Main cohort) | At inclusion and up to 5 years | Proportion of participants with each phenotype: myeloid neoplasms, extra-hematological manifestations and other associated entities | ClinicalTrials.gov |
| Secondary | Response to treatment and overall survival in patients with DDX41-associated MDS or AML (Main cohort) | From inclusion up to 5 years | Response rates according to standard disease-specific response criteria, and overall survival | ClinicalTrials.gov |
| Secondary | Penetrance of germline variants identified in candidate genes (Exploratory cohort) | From inclusion up to 5 years | Age-specific cumulative risk of myeloid neoplasms among carriers of variants in candidate genes | ClinicalTrials.gov |
| Secondary | Clonal evolution in carriers of germline variants in candidate genes (Exploratory cohort) | 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 | ClinicalTrials.gov |
| Secondary | Proportion of candidate-gene variants with functional evidence of pathogenicity (Exploratory cohort) | Through registry completion, up to 5 years | Functional significance of variants assessed by biological analyses and functional assays | ClinicalTrials.gov |
Outcomes 0
Each outcome the trial posted results for, in ClinicalTrials.gov's words.
| Type | Outcome | Time frame | Population | Units | Measured as | Source |
|---|
Results by group 0
Each measurement the trial posted, group by group, in the words and numbers it posted.
| Outcome | Group | Category | Value | Spread | Units | Source |
|---|
Participant flow 0
How many started, completed or left each group, period by period.
| Period | Milestone | Group | Participants | Units counted | Source |
|---|
Adverse events 0
Each adverse event the trial posted, group by group: the participants affected out of those at risk.
| Type | Event | Organ system | Group | Affected | At risk | Events | Source |
|---|
Adverse event totals 0
The totals the trial posted for each group.
| Total | Group | Affected | At risk | Source |
|---|
Papers 0
The papers the trial lists on ClinicalTrials.gov.
| PMID | Listed as | Source |
|---|
Grants 0
The grants NIH RePORTER links to the trial, newest funded first: NIH's, and some of AHRQ's, CDC's, FDA's and VA's. Each shows its title, principal investigators, organization and funder in its newest year.
| Project | Title | Principal investigators | Organization | Funder | Fiscal years | Source |
|---|
Trial comparisons 0
Comparisons of the trial's two groups, calculated by ConductScience from the counts it posted.
| Comparison | Source |
|---|
Tests 0
The ConductCognition tests this trial's registered outcomes name, as ScienceGraph matched them in trial-tests-2026-11-12-0.2.1.
| Test | Named as | Source |
|---|
Source 5
| Field | Value | Source |
|---|---|---|
| Release | trials-2026-11-12-0.4.0 | ClinicalTrials.gov |
| Release manifest SHA-256 | 0f4a8d8c48aee2a7573ae0fa94ecbeab70c1adbe449bbc95c424bc7d3e97b9d4 | ClinicalTrials.gov |
| Registry capture | 2026-11-12 | ClinicalTrials.gov |
| Results copy, AACT | 2026-03-23 | ClinicalTrials.gov |
| NIH clinical studies file | 2026-11-13 | ClinicalTrials.gov |
Release trials-2026-11-12-0.4.0
ClinicalTrials.gov's posted results, through CTTI's AACT: ClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299 ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
ClinicalTrials.gov: none stated ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
NIH RePORTER's clinical studies and project files: Public domain (NIH RePORTER)