NCT06022016

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

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 910 (estimated)
• Sponsor: Institut Claudius Regaud · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

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 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

• DDX41 Gene Mutation

Interventions

Type	Name	Description
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.

Timeline

• Start date: 2023-11-17
• Primary completion: 2030-01-01
• Completion: 2030-01-01
• First posted: 2023-09-01
• Last updated: 2025-12-08

Locations

5 sites across 1 country: France