LUCID: Study of Families With an Hemopathies Predisposition Related to the DDX41 Gene.
Study Details
Study Description
Brief Summary
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 (Myelodysplastic syndrome/acute myeloid leukemia (MDS/AML) or cytopenia) 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.
Condition or Disease | Intervention/Treatment | Phase |
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N/A |
Study Design
Arms and Interventions
Arm | Intervention/Treatment |
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Experimental: Index case or related
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Genetic: For each person (index case or related) included in this study:
an health questionnaire will be completed in order to gather information on the participant's medical history and lifestyle.
a saliva sample will be taken (if applicable) so that a genetic analysis can be performed.
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Outcome Measures
Primary Outcome Measures
- The time to onset of hemopathy defined as the time between the date of birth and the date of diagnosis of an hemopathy. [74 months after the study start date]
Secondary Outcome Measures
- 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]
Eligibility Criteria
Criteria
Index cases:
Inclusion Criteria:
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Women or man aged ≥ 18 years old.
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Personal history(s) of hemopathy or patient with hemopathy at the time of inclusion: acute myeloid leukemia (AML), myelodysplastic syndromes (MDS), idiopathic cytopenia.
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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).
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Patient (or beneficiary) agreeing to release results of oncogenetic report.
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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.
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Patient affiliated to a Social Health Insurance in France.
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Patient able to participate and willing to give informed consent prior performance of any study-related procedures.
Exclusion Criteria:
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No history of hemopathy or no current hemopathy.
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Patient (or beneficiary) unable to complete questionnaire for social or psychological reasons.
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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:
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Women or man aged ≥ 18 years old.
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Related in the 1st, 2nd or 3rd degree (parents, children, grandchildren, brothers, sisters, grandparents, nephews, nieces, uncles, aunts, great-grandparents) to an index case included in the LUCID study.
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Agreeing to carry out a scientific salivary test for the constitutional research of the DDX41 mutation.
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Patient affiliated to a Social Health Insurance in France.
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Patient able to participate and willing to give informed consent prior performance of any study-related procedures.
Exclusion Criteria:
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Related in the 4th or 5th degree to an index case included in the LUCID study.
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Person already identified as an index case in the LUCID study.
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Person unable to complete questionnaire for social or psychological reasons.
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Person who has forfeited his/her freedom by administrative or legal award or who is under legal protection (curatorship and guardianship, protection of justice).
Contacts and Locations
Locations
Site | City | State | Country | Postal Code | |
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1 | Chu de Bordeaux | Bordeaux | France | ||
2 | Chu de Limoges | Limoges | France | ||
3 | Institut Paoli-Calmettes | Marseille | France | ||
4 | Chu de Montpellier | Montpellier | France | ||
5 | IUCT-O | Toulouse | France |
Sponsors and Collaborators
- Institut Claudius Regaud
Investigators
None specified.Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- 23HEMA06