Study of Families With an Hemopathies Predisposition Related to the DDX41 Gene.
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 910
- 试验地点
- 8
- 主要终点
- The time to onset of hemopathy defined as the time between the date of birth and the date of diagnosis of an hemopathy.
研究概览
简要总结
This is a multicenter, interventional, historico-prospective cohort pilot study aimed at specifying the phenotype of subjects carrying a constitutional familial DDX41 mutation, with a view to eventually publishing oncogenetic recommendations for carriers of this mutation.
The main objective of the LUCID project is to assess the cumulative risk of hematological diseases as a function of age in DDX41 germline mutation carriers.
This study will be carried out in two stages:
Stage 1: Inclusion of index cases in an oncogenetic consultation (salivary test, completion of an health self-questionnaire and collection of contact details for the related cases).
Stage 2: Proposition of participation to family members, by correspondence, and determination of carrier or non-carrier status of the constitutional familial DDX41 mutation (based on a salivary test).
A maximum of 210 index case patients and 700 family member will be included in this study.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Other
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Index cases:
- •Inclusion Criteria:
- •Women or man aged ≥ 18 years old.
- •Personal history(s) of hemopathy or patient with hemopathy at the time of inclusion.
- •Patient with a tumor mutation of DDX41 with an allelic frequency (AF) ≥ 30% (with total depth of nucleotide position >300x: provide tumor molecular analysis report).
- •Special case of inclusion of deceased index cases: the DDX41 tumor mutation of interest must be accompanied by another somatic DDX41 mutation (the most frequent being p.R525H).
- •Or patient known to be a constitutional carrier of a DDX41 mutation confirmed after oncogenetic consultation (in this case, provide constitutional analysis report).
- •Patient (or beneficiary) agreeing to release results of oncogenetic report.
- •Patient (or beneficiary) agrees to communicate the contact details of his relatives and that they may be contacted by mail to participate in the LUCID study.
- •Patient affiliated to a Social Health Insurance in France.
- •Patient able to participate and willing to give informed consent prior performance of any study-related procedures.
排除标准
- •No history of hemopathy or no current hemopathy.
- •Patient (or beneficiary) unable to complete questionnaire for social or psychological reasons.
- •Patient who has forfeited his/her freedom by administrative or legal award or who is under legal protection (curatorship and guardianship, protection of justice).
- •Related cases (Family member):
- •Inclusion Criteria:
- •Women or man aged ≥ 18 years old.
- •Related to an index case included in the LUCID study.
- •Agreeing to carry out a scientific salivary test for the constitutional research of the DDX41 mutation.
- •Patient affiliated to a Social Health Insurance in France.
- •Patient able to participate and willing to give informed consent prior performance of any study-related procedures.
- •Exclusion Criteria:
- •Not applicable from version 2 of the protocol. Related in the 4th or 5th degree to an index case included in the LUCID study.
- •Person already identified as an index case in the LUCID study.
- •Person unable to complete questionnaire for social or psychological reasons.
- •Person who has forfeited his/her freedom by administrative or legal award or who is under legal protection (curatorship and guardianship, protection of justice).
研究组 & 干预措施
Index case or related
干预措施: For each person (index case or related) included in this study: (Genetic)
结局指标
主要结局
The time to onset of hemopathy defined as the time between the date of birth and the date of diagnosis of an hemopathy.
时间窗: 74 months after the study start date
次要结局
- Post-transplant relapse-free survival defined as the time between the date of transplantation and the date of all-cause relapse or death.(74 months after the study start date)