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

Обзор

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.

Вмешательства

• Генная терапия 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.

Первичные конечные точки

• The time to onset of hemopathy defined as the time between the date of birth and the date of diagnosis of an hemopathy. [Срок оценки: 74 months after the study start date]

Вторичные конечные точки (1)

• Post-transplant relapse-free survival defined as the time between the date of transplantation and the date of all-cause relapse or death. [Срок оценки: 74 months after the study start date]

Критерии участия

Index cases:

Критерии включения

• 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.

Критерии исключения

• 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):

Критерии включения

• 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.

Критерии исключения

• 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).

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Да

Дизайн исследования

Распределение

Не применимо

Модель

Одна группа

Маскирование

Открытое

Основная цель

Другое

Центры проведения

Франция · 5 центров

• Chu de Bordeaux — Bordeaux
• Chu de Limoges — Limoges
• Institut Paoli-Calmettes — Marseille
• Chu de Montpellier — Montpellier
• IUCT-O — Toulouse

Идентификаторы

NCT: NCT06022016 · 23HEMA06

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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