DDX41 Gene MutationLUCIDNCT06022016
Study of Families With an Hemopathies Predisposition Related to the DDX41 Gene.
A study testing For each person (index case or related) included in this study: in people with DDX41 Gene Mutation, run by Institut Claudius Regaud at 5 sites in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- DDX41 Gene Mutation
- What is being tested?
- For each person (index case or related) included in this study:
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 910 participants
- Where
- 5 sitesFrance
- Study dates
- 17 Nov 2023to Jan 2030
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- 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.
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- 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.
- 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.
Who cannot join
- 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):
- 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).
Trial locations and contacts
5 sites in 1 country. Contact the study team or a site near you to ask about taking part.
5 sites in 1 country
France5 sites, 5 recruiting
- Recruiting
Chu de Bordeaux
Bordeaux
Julie TINAT, 05 57 82 11 67, julie.tinat@chu-bordeaux.fr
- Recruiting
Chu de Limoges
Limoges
Nathalie GACHARD, 05 19 76 17 78, nathalie.gachard@chu-limoges.fr
- Recruiting
Institut Paoli-Calmettes
Marseille
Catherine NOGUES, 04 91 22 33 95, noguesc@ipc.unicancer.fr
- Recruiting
Chu de Montpellier
Montpellier
Pascal PUJOL, 04 67 33 07 04, p-pujol@chu-montpellier.fr
- Recruiting
IUCT-O
Toulouse
Pierre VANDE PERRE, 05 31 15 52 26, vandeperre.pierre@iuct-oncopole.fr
About this study
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.
Read more
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
- Being tested
- For each person (index case or related) included in this study:
- Keywords
- GermlIne DDX41 mutation, Myelodysplastic Syndrome, Acute Myeloid Leukemia, Idiopathic Cytopenia, LeUkemia
- Medical subject headings
- Myelodysplastic Syndromes, Leukemia, Myeloid, Acute, Leukemia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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.
| Study group | Role | What they receive |
|---|---|---|
| Index case or related | Experimental | Not described Receives: Genetic: For each person (index case or related) included in this study: |
What is being measured
The primary outcome is the main question the study is designed to answer.
The time to onset of hemopathy defined as the time between the date of birth and the date of diagnosis of an hemopathy.
Measured: 74 months after the study start date
Secondary outcomes (1)
Post-transplant relapse-free survival defined as the time between the date of transplantation and the date of all-cause relapse or death.
Measured: 74 months after the study start date
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Sep 2023
- Study start17 Nov 2023
- Primary completionJan 2030 (estimated)
- Study completionJan 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for DDX41 Gene MutationStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 910 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Institut Claudius Regaud
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06022016
- Sponsor's protocol ID
- 23HEMA06
- Acronym
- LUCID
- Status last verified
- Dec 2025
- First submitted
- 28 Aug 2023
- Last updated
- 8 Dec 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of Families With an Hemopathies Predisposition Related to the DDX41 Gene.
- ClinicalTrials.gov ID
- NCT06022016
- Acronym / sponsor ID
- LUCID / 23HEMA06
- Conditions
- DDX41 Gene Mutation
- Keywords
- GermlIne DDX41 mutation, Myelodysplastic Syndrome, Acute Myeloid Leukemia, Idiopathic Cytopenia, LeUkemia
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 910 participants (estimated)
- Lead sponsor
- Institut Claudius RegaudUniversity, hospital or other
- Study start
- 17 Nov 2023 (actual)
- Primary completion
- Jan 2030 (estimated)
- Study completion
- Jan 2030 (estimated)
- First posted
- 1 Sep 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Index case or related | Experimental | Genetic: For each person (index case or related) included in this study: |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (14 listed)
- 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).
Key exclusion criteria (8 listed)
- 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).
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| 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. | Genetic | Index case or related |
Primary outcome
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
1 secondary outcome
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Dec 2025.
Related trials for DDX41 Gene Mutation
RecruitingObservational study
Study of Individuals and Families With Aberrations in DDX41 or Similar Cancer Predisposition Variants
Germline Mutation, Myelodysplastic Syndromes
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
5 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing For each person (index case or related) included in this study: in people with DDX41 Gene Mutation, run by Institut Claudius Regaud at 5 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 14 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 8 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Pierre VANDE PERRE (05 31 15 52 26, vandeperre.pierre@iuct-oncopole.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Dec 2025.