Study of Families With an Hemopathies Predisposition Related to the DDX41 Gene.

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.

NCT Number	NCT06022016
Lead Sponsor	Institut Claudius Regaud
Conditions	DDX41 Gene Mutation
Enrollment	910 participants
Start Date	2023-11-17
Primary Completion	2030-01 (estimated)
Study Completion	2030-01 (estimated)
Updated on ClinicalTrials.gov	2025-12-08