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

NCT06022016 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 910

Last updated 2025-12-08

No results posted yet for this study

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

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.

Sponsors & Collaborators

  • Institut Claudius Regaud

    lead OTHER

Study Design

Allocation
NA
Purpose
OTHER
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2023-11-17
Primary Completion
2030-01-31
Completion
2030-01-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06022016 on ClinicalTrials.gov