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.
研究概览
地位
详细说明
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.
研究类型
注册 (估计的)
联系人和位置
学习联系方式
- 姓名：Fatiha CHERMAT, PhD
- 电话号码：+ 33 1 71 20 70 59
- 邮箱：fatiha.chermat-ext@aphp.fr
研究联系人备份
- 姓名：Marie SEBERT, Pr
- 电话号码：+ 33 1 71 20 70 18
- 邮箱：marie.sebert@aphp.fr
学习地点
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Argenteuil、法国、95107
- Centre Hospitalier Argenteuil
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接触：
- Benjamin PAPOULAR, MD
- 电话号码：+33 1 34 23 20 16
- 邮箱：benjamin.papoular@ch-argenteuil.fr
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首席研究员：
- Benjamin PAPOULAR, MD
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Bobigny、法国、93000
- Hôpital Avicenne
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接触：
- Ramy RAHME, MD
- 电话号码：+33 1 48 95 70 71
- 邮箱：ramy.rahme@aphp.fr
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首席研究员：
- Ramy RAHME, MD
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Le Kremlin-Bicêtre、法国、94270
- Hôpital Bicêtre
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接触：
- Marie LE CANN, MD
- 电话号码：+33 1 45 21 25 34
- 邮箱：marie.lecann@aphp.fr
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首席研究员：
- Marie LE CANN, MD
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Paris、法国、75012
- Hôpital Saint-Antoine
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接触：
- Pierre HIRSCH, MD
- 电话号码：+33 1 49 28 23 57
- 邮箱：pierre.hirsch@aphp.fr
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首席研究员：
- Pierre HIRSCH, MD
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Paris、法国、75014
- Hôpital Cochin
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首席研究员：
- Lise WILLEMS, MD
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接触：
- Lise WILLEMS, MD
- 电话号码：+33 1 58 41 21 20
- 邮箱：lise.willems@aphp.fr
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Paris、法国、75005
- Institut Curie
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接触：
- Chrystelle COLAS, MD
- 电话号码：+33 1 72 38 94 30
- 邮箱：chrystelle.colas@curie.fr
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首席研究员：
- Chrystelle COLAS, MD
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首席研究员：
- Léa VEYRUNE, MD
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Paris、法国、75010
- Hôpital Saint Louis
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接触：
- Marie SEBERT, MD, PhD
- 电话号码：+33 1 71 20 70 18/19
- 邮箱：marie.sebert@aphp.fr
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首席研究员：
- Marie SEBERT, MD, PhD
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Villejuif、法国、94805
- Institut Gustave Roussy
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接触：
- Jean baptiste MICOL, MD
- 电话号码：+33 1 42 11 57 90
- 邮箱：Jeanbaptiste.MICOL@gustaveroussy.fr
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首席研究员：
- Jean baptiste MICOL, MD
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参与标准
资格标准
适合学习的年龄
接受健康志愿者
有资格学习的性别
取样方法
研究人群
The registry includes adult patients carrying a germline variant associated with a predisposition to myeloid neoplasms and their biological relatives, where relevant.
描述
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
学习计划
研究是如何设计的？
设计细节
- 观测模型：COHORT
- 时间观点：PROSPECTIVE
队列和干预
团体/队列 |
|---|
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Main cohort
Patients and carriers of pathogenic DDX41 variants: cohort dedicated to the study of patients and relatives carrying DDX41 variants. |
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Exploratory cohort
Cohort dedicated to the study of candidate genes and new predisposition syndromes |
研究衡量的是什么？
主要结果指标
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
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Age- and sex-specific cumulative incidence of myeloid neoplasms in asymptomatic carriers of a germline DDX41 variant (Main cohort)
大体时间：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)
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Number of new hereditary syndromes predisposing to myeloid neoplasms identified and characterized (Exploratory cohort)
大体时间：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
|
次要结果测量
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
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Factors associated with onset and progression of myeloid neoplasms in germline DDX41 variant carriers (Main cohort)
大体时间：From inclusion up to 5 years
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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)
大体时间：At inclusion and up to 5 years
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Proportion of participants with each phenotype: myeloid neoplasms, extra-hematological manifestations and other associated entities |
At inclusion and up to 5 years
|
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Response to treatment and overall survival in patients with DDX41-associated MDS or AML Main cohort)
大体时间：From inclusion up to 5 years
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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)
大体时间：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)
大体时间：From inclusion up to 5 years
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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)
大体时间：Through registry completion, up to 5 years
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Functional significance of variants assessed by biological analyses and functional assays |
Through registry completion, up to 5 years
|
合作者和调查者
调查人员
- 首席研究员：Marie SEBERT, Pr、Hôpital Saint Louis
研究记录日期
研究主要日期
学习开始 (估计的)
初级完成 (估计的)
研究完成 (估计的)
研究注册日期
首次提交
首先提交符合 QC 标准的
首次发布 (实际的)
研究记录更新
最后更新发布 (实际的)
上次提交的符合 QC 标准的更新
最后验证
更多信息
与本研究相关的术语
关键字
其他研究编号
- PreDDX Registry
- 2026-A01030-51 (注册表标识符：preDDX)
计划个人参与者数据 (IPD)
计划共享个人参与者数据 (IPD)？
IPD 计划说明
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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