Actively Recruiting
Study of Families With an Hemopathies Predisposition Related to the DDX41 Gene.
Led by Institut Claudius Regaud · Updated on 2025-12-08
910
Participants Needed
5
Research Sites
319 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Study of Families With an Hemopathies Predisposition Related to the DDX41 Gene.
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Adults aged 18 years or older
- Personal history or current diagnosis of blood disorder (hemopathy) for index cases
- Presence of DDX41 tumor mutation with allelic frequency ≥ 30% confirmed by molecular analysis for index cases
- Deceased index cases included if DDX41 tumor mutation is accompanied by a second somatic DDX41 mutation
- Known constitutional carrier of DDX41 mutation confirmed after oncogenetic consultation
- Agreement to release oncogenetic report results
- Agreement to provide contact details of relatives for study participation
- Affiliated to French Social Health Insurance
- Ability and willingness to give informed consent
- Related family members aged 18 years or older
- Family members related to an index case included in the study
- Agreement to undergo saliva test for constitutional DDX41 mutation
- Ability and willingness to give informed consent for family members
You will not qualify if you...
- No history or current blood disorder for index cases
- Inability to complete questionnaire for social or psychological reasons
- Forfeiture of legal freedom or under legal protection (curatorship, guardianship, or protection of justice)
- Related cases excluded if related in the 4th or 5th degree to an index case (from version 2 of protocol)
- Person already identified as an index case in the study
AI-Screening
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Trial Site Locations
Total: 5 locations
1
Chu de Bordeaux
Bordeaux, France
Actively Recruiting
2
Chu de Limoges
Limoges, France
Actively Recruiting
3
Institut Paoli-Calmettes
Marseille, France
Actively Recruiting
4
Chu de Montpellier
Montpellier, France
Actively Recruiting
5
IUCT-O
Toulouse, France
Actively Recruiting
Research Team
P
Pierre VANDE PERRE
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
OTHER
Number of Arms
1
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