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.
Studieoversikt
Status
Forhold
Detaljert beskrivelse
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.
Studietype
Registrering (Antatt)
Kontakter og plasseringer
Studiekontakt
- Navn: Fatiha CHERMAT, PhD
- Telefonnummer: + 33 1 71 20 70 59
- E-post: fatiha.chermat-ext@aphp.fr
Studer Kontakt Backup
- Navn: Marie SEBERT, Pr
- Telefonnummer: + 33 1 71 20 70 18
- E-post: marie.sebert@aphp.fr
Studiesteder
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Argenteuil, Frankrike, 95107
- Centre Hospitalier Argenteuil
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Ta kontakt med:
- Benjamin PAPOULAR, MD
- Telefonnummer: +33 1 34 23 20 16
- E-post: benjamin.papoular@ch-argenteuil.fr
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Hovedetterforsker:
- Benjamin PAPOULAR, MD
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Bobigny, Frankrike, 93000
- Hôpital Avicenne
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Ta kontakt med:
- Ramy RAHME, MD
- Telefonnummer: +33 1 48 95 70 71
- E-post: ramy.rahme@aphp.fr
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Hovedetterforsker:
- Ramy RAHME, MD
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Le Kremlin-Bicêtre, Frankrike, 94270
- Hôpital Bicêtre
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Ta kontakt med:
- Marie LE CANN, MD
- Telefonnummer: +33 1 45 21 25 34
- E-post: marie.lecann@aphp.fr
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Hovedetterforsker:
- Marie LE CANN, MD
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Paris, Frankrike, 75012
- Hôpital Saint-Antoine
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Ta kontakt med:
- Pierre HIRSCH, MD
- Telefonnummer: +33 1 49 28 23 57
- E-post: pierre.hirsch@aphp.fr
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Hovedetterforsker:
- Pierre HIRSCH, MD
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Paris, Frankrike, 75014
- Hôpital Cochin
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Hovedetterforsker:
- Lise WILLEMS, MD
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Ta kontakt med:
- 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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Ta kontakt med:
- Chrystelle COLAS, MD
- Telefonnummer: +33 1 72 38 94 30
- E-post: chrystelle.colas@curie.fr
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Hovedetterforsker:
- Chrystelle COLAS, MD
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Hovedetterforsker:
- Léa VEYRUNE, MD
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Paris, Frankrike, 75010
- Hôpital Saint Louis
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Ta kontakt med:
- Marie SEBERT, MD, PhD
- Telefonnummer: +33 1 71 20 70 18/19
- E-post: marie.sebert@aphp.fr
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Hovedetterforsker:
- Marie SEBERT, MD, PhD
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Villejuif, Frankrike, 94805
- Institut Gustave Roussy
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Ta kontakt med:
- Jean baptiste MICOL, MD
- Telefonnummer: +33 1 42 11 57 90
- E-post: Jeanbaptiste.MICOL@gustaveroussy.fr
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Hovedetterforsker:
- Jean baptiste MICOL, MD
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Deltakelseskriterier
Kvalifikasjonskriterier
Alder som er kvalifisert for studier
Tar imot friske frivillige
Kjønn som er kvalifisert for studier
Prøvetakingsmetode
Studiepopulasjon
The registry includes adult patients carrying a germline variant associated with a predisposition to myeloid neoplasms and their biological relatives, where relevant.
Beskrivelse
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
Hvordan er studiet utformet?
Designdetaljer
- Observasjonsmodeller: COHORT
- Tidsperspektiver: PROSPECTIVE
Kohorter og intervensjoner
Gruppe / 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 |
Hva måler studien?
Primære resultatmål
Resultatmål |
Tiltaksbeskrivelse |
Tidsramme |
|---|---|---|
|
Age- and sex-specific cumulative incidence of myeloid neoplasms in asymptomatic carriers of a germline DDX41 variant (Main cohort)
Tidsramme: From inclusion up to 5 years (end of registry)
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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)
Tidsramme: 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 |
Through registry completion, up to 5 years
|
Sekundære resultatmål
Resultatmål |
Tiltaksbeskrivelse |
Tidsramme |
|---|---|---|
|
Factors associated with onset and progression of myeloid neoplasms in germline DDX41 variant carriers (Main cohort)
Tidsramme: 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)
Tidsramme: 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)
Tidsramme: From inclusion up to 5 years
|
Response rates according to standard disease-specific response criteria, and overall survival |
From inclusion up to 5 years
|
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Penetrance of germline variants identified in candidate genes (Exploratory cohort)
Tidsramme: 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)
Tidsramme: 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
|
|
Proportion of candidate-gene variants with functional evidence of pathogenicity (Exploratory cohort)
Tidsramme: 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
|
Samarbeidspartnere og etterforskere
Etterforskere
- Hovedetterforsker: Marie SEBERT, Pr, Hôpital Saint Louis
Studierekorddatoer
Studer hoveddatoer
Studiestart (Antatt)
Primær fullføring (Antatt)
Studiet fullført (Antatt)
Datoer for studieregistrering
Først innsendt
Først innsendt som oppfylte QC-kriteriene
Først lagt ut (Faktiske)
Oppdateringer av studieposter
Sist oppdatering lagt ut (Faktiske)
Siste oppdatering sendt inn som oppfylte QC-kriteriene
Sist bekreftet
Mer informasjon
Begreper knyttet til denne studien
Nøkkelord
Andre studie-ID-numre
- PreDDX Registry
- 2026-A01030-51 (Registeridentifikator: preDDX)
Plan for individuelle deltakerdata (IPD)
Planlegger du å dele individuelle deltakerdata (IPD)?
IPD-planbeskrivelse
Sharing of pseudonymized individual data may be considered on reasoned request to the sponsor, subject to scientific review, GDPR compliance and applicable French regulations.
Legemiddel- og utstyrsinformasjon, studiedokumenter
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