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NCT Number: NCT06022016

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.

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Key information

Conditions

DDX41 Gene Mutation Bone Marrow Diseases Hematologic Diseases Hemic and Lymphatic Diseases Leukemia Leukemia, Myeloid Leukemia, Myeloid, Acute Myelodysplastic Syndromes Neoplasms Neoplasms by Histologic Type

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Chu de Bordeaux, Bordeaux, France

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Index cases:

Inclusion criteria

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

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

Exclusion criteria

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

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

Exclusion criteria

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

Treatment and study plan

For each person (index case or related) included in this study:

Genetic

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.

Primary outcomes

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

Secondary outcomes

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

Study contacts

Contact information is provided by the study sponsor or research team.

Pierre VANDE PERRE

CONTACT

[email protected]

05 31 15 52 26

Sponsors and collaborators

Lead sponsor

Institut Claudius Regaud

Other

Registry information

Acronym: LUCID

Important dates

Study start: 2023
Primary completion: 2030
Study completion: 2030
First posted: Sep 1, 2023
Registry last updated: Dec 8, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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