Registry of Relatives and Patients Carrying Pathogenic Germline DDX41 Variants and Emerging New Syndromes (preDDX)
The preDDX registry aims to study germline genetic predispositions to myeloid neoplasms, in particular those associated with pathogenic DDX41 variants and emerging syndromes.
Studieöversikt
Status
Betingelser
Detaljerad beskrivning
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.
Studietyp
Inskrivning (Beräknad)
Kontakter och platser
Studiekontakt
- Namn: Fatiha CHERMAT, PhD
- Telefonnummer: + 33 1 71 20 70 59
- E-post: fatiha.chermat-ext@aphp.fr
Studera Kontakt Backup
- Namn: Marie SEBERT, Pr
- Telefonnummer: + 33 1 71 20 70 18
- E-post: marie.sebert@aphp.fr
Studieorter
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Argenteuil, Frankrike, 95107
- Centre Hospitalier Argenteuil
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Kontakt:
- Benjamin PAPOULAR, MD
- Telefonnummer: +33 1 34 23 20 16
- E-post: benjamin.papoular@ch-argenteuil.fr
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Huvudutredare:
- Benjamin PAPOULAR, MD
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Bobigny, Frankrike, 93000
- Hôpital Avicenne
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Kontakt:
- Ramy RAHME, MD
- Telefonnummer: +33 1 48 95 70 71
- E-post: ramy.rahme@aphp.fr
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Huvudutredare:
- Ramy RAHME, MD
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Le Kremlin-Bicêtre, Frankrike, 94270
- Hôpital Bicêtre
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Kontakt:
- Marie LE CANN, MD
- Telefonnummer: +33 1 45 21 25 34
- E-post: marie.lecann@aphp.fr
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Huvudutredare:
- Marie LE CANN, MD
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Paris, Frankrike, 75012
- Hôpital Saint-Antoine
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Kontakt:
- Pierre HIRSCH, MD
- Telefonnummer: +33 1 49 28 23 57
- E-post: pierre.hirsch@aphp.fr
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Huvudutredare:
- Pierre HIRSCH, MD
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Paris, Frankrike, 75014
- Hôpital Cochin
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Huvudutredare:
- Lise WILLEMS, MD
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Kontakt:
- Lise WILLEMS, MD
- Telefonnummer: +33 1 58 41 21 20
- E-post: lise.willems@aphp.fr
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Paris, Frankrike, 75005
- Institut Curie
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Kontakt:
- Chrystelle COLAS, MD
- Telefonnummer: +33 1 72 38 94 30
- E-post: chrystelle.colas@curie.fr
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Huvudutredare:
- Chrystelle COLAS, MD
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Huvudutredare:
- Léa VEYRUNE, MD
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Paris, Frankrike, 75010
- Hôpital Saint Louis
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Kontakt:
- Marie SEBERT, MD, PhD
- Telefonnummer: +33 1 71 20 70 18/19
- E-post: marie.sebert@aphp.fr
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Huvudutredare:
- Marie SEBERT, MD, PhD
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Villejuif, Frankrike, 94805
- Institut Gustave Roussy
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Kontakt:
- Jean baptiste MICOL, MD
- Telefonnummer: +33 1 42 11 57 90
- E-post: Jeanbaptiste.MICOL@gustaveroussy.fr
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Huvudutredare:
- Jean baptiste MICOL, MD
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Deltagandekriterier
Urvalskriterier
Åldrar som är berättigade till studier
Tar emot friska volontärer
Kön som är behöriga för studier
Testmetod
Studera befolkning
The registry includes adult patients carrying a germline variant associated with a predisposition to myeloid neoplasms and their biological relatives, where relevant.
Beskrivning
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
Studieplan
Hur är studien utformad?
Designdetaljer
- Observationsmodeller: COHORT
- Tidsperspektiv: PROSPECTIVE
Kohorter och interventioner
Grupp / Kohort |
|---|
|
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 |
Vad mäter studien?
Primära resultatmått
Resultatmått |
Åtgärdsbeskrivning |
Tidsram |
|---|---|---|
|
Age- and sex-specific cumulative incidence of myeloid neoplasms in asymptomatic carriers of a germline DDX41 variant (Main cohort)
Tidsram: 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 |
From inclusion up to 5 years (end of registry)
|
|
Number of new hereditary syndromes predisposing to myeloid neoplasms identified and characterized (Exploratory cohort)
Tidsram: Through registry completion, up to 5 years
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Identification and clinical, biological and genetic characterization of new germline predisposition syndromes, based on variants in candidate genes classified according to ACMG criteria |
Through registry completion, up to 5 years
|
Sekundära resultatmått
Resultatmått |
Åtgärdsbeskrivning |
Tidsram |
|---|---|---|
|
Factors associated with onset and progression of myeloid neoplasms in germline DDX41 variant carriers (Main cohort)
Tidsram: 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. |
From inclusion up to 5 years
|
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Frequency of hematological and extra-hematological manifestations in germline DDX41 variant carriers (Main cohort)
Tidsram: At inclusion and up to 5 years
|
Proportion of participants with each phenotype: myeloid neoplasms, extra-hematological manifestations and other associated entities |
At inclusion and up to 5 years
|
|
Response to treatment and overall survival in patients with DDX41-associated MDS or AML Main cohort)
Tidsram: From inclusion up to 5 years
|
Response rates according to standard disease-specific response criteria, and overall survival |
From inclusion up to 5 years
|
|
Penetrance of germline variants identified in candidate genes (Exploratory cohort)
Tidsram: From inclusion up to 5 years
|
Age-specific cumulative risk of myeloid neoplasms among carriers of variants in candidate genes |
From inclusion up to 5 years
|
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Clonal evolution in carriers of germline variants in candidate genes (Exploratory cohort)
Tidsram: 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 |
From inclusion up to 5 years
|
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Proportion of candidate-gene variants with functional evidence of pathogenicity (Exploratory cohort)
Tidsram: Through registry completion, up to 5 years
|
Functional significance of variants assessed by biological analyses and functional assays |
Through registry completion, up to 5 years
|
Samarbetspartners och utredare
Utredare
- Huvudutredare: Marie SEBERT, Pr, Hôpital Saint Louis
Studieavstämningsdatum
Studera stora datum
Studiestart (Beräknad)
Primärt slutförande (Beräknad)
Avslutad studie (Beräknad)
Studieregistreringsdatum
Först inskickad
Först inskickad som uppfyllde QC-kriterierna
Första postat (Faktisk)
Uppdateringar av studier
Senaste uppdatering publicerad (Faktisk)
Senaste inskickade uppdateringen som uppfyllde QC-kriterierna
Senast verifierad
Mer information
Termer relaterade till denna studie
Nyckelord
Andra studie-ID-nummer
- PreDDX Registry
- 2026-A01030-51 (Registeridentifierare: preDDX)
Plan för individuella deltagardata (IPD)
Planerar du att dela individuella deltagardata (IPD)?
IPD-planbeskrivning
Sharing of pseudonymized individual data may be considered on reasoned request to the sponsor, subject to scientific review, GDPR compliance and applicable French regulations.
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