Status:
RECRUITING
Study of Families With an Hemopathies Predisposition Related to the DDX41 Gene.
Lead Sponsor:
Institut Claudius Regaud
Conditions:
DDX41 Gene Mutation
Eligibility:
All Genders
18+ years
Phase:
NA
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 eventual...
Eligibility Criteria
Inclusion
- Index cases:
- 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.
Exclusion
- 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.
Key Trial Info
Start Date :
November 17 2023
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
January 1 2030
Estimated Enrollment :
910 Patients enrolled
Trial Details
Trial ID
NCT06022016
Start Date
November 17 2023
End Date
January 1 2030
Last Update
December 8 2025
Active Locations (5)
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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