Study of Families With an Hemopathies Predisposition Related to the DDX41 Gene.
ConditionDDX41 Gene Mutation
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age18+
SponsorInstitut Claudius Regaud
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 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.
Eligibility criteria
Qualifiers
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).
Patient (or beneficiary) agreeing to release results of oncogenetic report.
Disqualifiers
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).
Women or man aged ≥ 18 years old.
Trial design
Treatments tested in this trial
- For each person (index case or related) included in this study:
Treatment groups
910 Participants
are divided into 1 treatment groupSponsors and collaborators
Source ClinicalTrials.gov