Study on DDX41 Gene Mutation and… (NCT06022016)

At a Glance

Age: 18 and older
Sex: Any
Study type: Interventional
Purpose: Other
Participants needed: 910 (estimated)
Sponsor: Institut Claudius Regaud · Other

Who this trial is looking for

This trial is looking for adults who have a family history of a specific gene mutation related to blood disorders. Participants will take a saliva test and complete a questionnaire to help understand the risks associated with this mutation.

Are You a Good Fit for This Trial?

You may be able to join if

I am at least 18 years old.
I have a personal history of a blood disorder or have one at the time.
I have a tumor mutation of DDX41.
I agree to share the results of my genetic testing.
I consent to provide my relatives' contact information for this study.
I have Social Health Insurance in France.
I am able to give my informed consent to join the study.

You may not be able to join if

I do not have a history of a blood disorder.
I cannot complete the questionnaire for personal reasons.
I am under legal protection or have lost my freedom through legal means.

Summarized in plain language from this trial's official eligibility criteria. The full criteria are further down this page — only the research team can confirm whether you qualify.

About This Trial

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 DDX…

Trial Locations

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Eligibility Criteria

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 tumo…

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).

Contacts

Pierre VANDE PERRE

05 31 15 52 26

vandeperre.pierre@iuct-oncopole.fr

CONTACT

Study on DDX41 Gene Mutation and Hematological Risks

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