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

December 1, 2025 updated by: Institut Claudius Regaud

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Estimated)

910

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Description

Index cases:

Inclusion Criteria:

  1. Women or man aged ≥ 18 years old.
  2. Personal history(s) of hemopathy or patient with hemopathy at the time of inclusion.

  3. 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).

  4. Patient (or beneficiary) agreeing to release results of oncogenetic report.
  5. 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.
  6. Patient affiliated to a Social Health Insurance in France.
  7. Patient able to participate and willing to give informed consent prior performance of any study-related procedures.

Exclusion Criteria:

  1. No history of hemopathy or no current hemopathy.
  2. Patient (or beneficiary) unable to complete questionnaire for social or psychological reasons.
  3. 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:

  1. Women or man aged ≥ 18 years old.
  2. Related to an index case included in the LUCID study.
  3. Agreeing to carry out a scientific salivary test for the constitutional research of the DDX41 mutation.
  4. Patient affiliated to a Social Health Insurance in France.
  5. Patient able to participate and willing to give informed consent prior performance of any study-related procedures.

Exclusion Criteria:

  1. Not applicable from version 2 of the protocol. Related in the 4th or 5th degree to an index case included in the LUCID study.
  2. Person already identified as an index case in the LUCID study.
  3. Person unable to complete questionnaire for social or psychological reasons.
  4. Person who has forfeited his/her freedom by administrative or legal award or who is under legal protection (curatorship and guardianship, protection of justice).

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Other
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Index case or related
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
The time to onset of hemopathy defined as the time between the date of birth and the date of diagnosis of an hemopathy.
Time Frame: 74 months after the study start date
74 months after the study start date

Secondary Outcome Measures

Outcome Measure
Time Frame
Post-transplant relapse-free survival defined as the time between the date of transplantation and the date of all-cause relapse or death.
Time Frame: 74 months after the study start date
74 months after the study start date

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Institut Claudius Regaud

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 17, 2023

Primary Completion (Estimated)

January 1, 2030

Study Completion (Estimated)

January 1, 2030

Study Registration Dates

First Submitted

August 28, 2023

First Submitted That Met QC Criteria

August 28, 2023

First Posted (Actual)

September 1, 2023

Study Record Updates

Last Update Posted (Actual)

December 8, 2025

Last Update Submitted That Met QC Criteria

December 1, 2025

Last Verified

December 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 23HEMA06

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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