Study for Characterisation of Predictive Parameters of Clonal Evolution in Subjects With GATA2 Germline Mutation

NCT ID: NCT05983991

Last Updated: 2025-12-26

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

150 participants

Study Classification

INTERVENTIONAL

Study Start Date

2023-12-07

Study Completion Date

2033-12-31

Brief Summary

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This trial is a translational, open-label, multi-site, retrospective and prospective cohort study of 250 patients aiming to characterize predictive parameters of clonal evolution in a population of subjects carrying the germline GATA2 mutation.

This study will be conducted on a population of subjects either with previous germline GATA2 mutation identified or newly identified for germline GATA2 mutation in the context of routine care.

Prospective cohort:

150 subjects will be included in this interventional prospective cohort study:

* Alive subjects previously identified with a germline GATA2 mutation through the already existing "Neutropenia database";
* Subject identified in the investigating centers in the context of a newly identified germline GATA2 mutation.

For each included patient, biological samples (blood and bone marrow samples) will be collected at baseline visit and then during 5 years, according to the samples taken in the standard practice. No additional sampling will be performed for the study.

Retrospective cohort:

Subjects (100 cases in total) previously identified with germline GATA2 mutation through the already existing "Neutropenia database" and with the following features may enter the retrospective cohort:

* Deceased patients,
* Lost to follow-up patients. Clinical follow-up data will be obtained from this database and/or patient's medical report.

For each retrospective case, archived blood and bone marrow samples (collected in a sanitary setting) will be sent to sponsor's centralized unit for analysis.

Detailed Description

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Conditions

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GATA2 Gene Mutation

Keywords

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GATA2 Gene Mutation Myelodysplastic Syndromes Acute myeloid Leukemia Spectrum 2

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

OTHER

Blinding Strategy

NONE

Study Groups

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Subject with a germline GATA2 mutation (Interventional prospective cohort)

Group Type EXPERIMENTAL

Biological samples (blood and bone marrow samples).

Intervention Type OTHER

For each included patient, biological samples (blood and bone marrow samples) will be collected at baseline visit and then during 5 years, according to the samples taken in the standard practice. No additional sampling will be performed for the study.

Interventions

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Biological samples (blood and bone marrow samples).

For each included patient, biological samples (blood and bone marrow samples) will be collected at baseline visit and then during 5 years, according to the samples taken in the standard practice. No additional sampling will be performed for the study.

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

1. All subject, at any age, with a germline GATA2 mutation.
2. Patient followed in the center within a standard of care procedure or clinical trial.
3. Signed written informed consent. For minor patients: patient assent and legal guardian(s) written informed consent obtained before inclusion in the study and prior performance of any study-related procedure.
4. For French patients: patient affiliated to a Social Health Insurance.

Exclusion Criteria

1. GATA2 somatic mutation.
2. Any psychological, familial, geographic or social situation, according to the judgment of investigator, potentially preventing the provision of informed consent or compliance to study procedure.
3. Person who has forfeited his/her freedom by administrative or legal award or who is under legal protection, with the exception of persons under curatorship who may be included in the study.
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Institut Claudius Regaud

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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CHU Angers

Angers, , France

Site Status RECRUITING

CHU Bordeaux

Bordeaux, , France

Site Status RECRUITING

CHU Estaing

Clermont-Ferrand, , France

Site Status RECRUITING

CHU Dijon

Dijon, , France

Site Status RECRUITING

CHU de Grenoble

Grenoble, , France

Site Status NOT_YET_RECRUITING

CHRU - Lille

Lille, , France

Site Status RECRUITING

IHOP Lyon

Lyon, , France

Site Status RECRUITING

CHU La Timone

Marseille, , France

Site Status RECRUITING

CHU Arnaud de Villeneuve

Montpellier, , France

Site Status RECRUITING

CHU Nantes

Nantes, , France

Site Status RECRUITING

CHU de Nice

Nice, , France

Site Status NOT_YET_RECRUITING

Hôpital Armand Trousseau

Paris, , France

Site Status RECRUITING

Hôpital Robert Debré

Paris, , France

Site Status RECRUITING

Hôpital Saint-Louis

Paris, , France

Site Status RECRUITING

CHU Rennes

Rennes, , France

Site Status RECRUITING

CHU Hôpitaux de Rouen - Charles Nicolle

Rouen, , France

Site Status RECRUITING

CHU Saint-Etienne

Saint-Priest-en-Jarez, , France

Site Status RECRUITING

Hôpital Necker

Sèvres, , France

Site Status NOT_YET_RECRUITING

CHU Strasbourg

Strasbourg, , France

Site Status RECRUITING

CHU Purpan - Hôpital des Enfants

Toulouse, , France

Site Status RECRUITING

Institut Universitaire Du Cancer Toulouse - Oncopole (Iuct-O)

Toulouse, , France

Site Status RECRUITING

CHRU de Tours

Tours, , France

Site Status NOT_YET_RECRUITING

CHRU Nancy Hôpital d'enfants

Vandœuvre-lès-Nancy, , France

Site Status RECRUITING

Countries

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France

Central Contacts

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Marlène PASQUET

Role: CONTACT

Phone: +33 5 34 55 86 08

Email: [email protected]

Facility Contacts

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Sylvie FRANCOIS

Role: primary

Pierre-Yves DUMAS

Role: primary

Justyna KANOLD

Role: primary

Florent NEUMANN

Role: primary

Claire FREYCON, MD

Role: primary

Louis TERRIOU

Role: primary

Cécile RENARD

Role: primary

Vincent BARLOGIS

Role: primary

Eric JEZIORSKI

Role: primary

Caroline THOMAS

Role: primary

Pierre-Simon ROHRLICH, MD

Role: primary

Jean DONADIEU

Role: primary

Saba AZARNOUSH

Role: primary

Claire FIESCHI

Role: primary

Virginie GANDEMER

Role: primary

Nimrod BUCHBINDER

Role: primary

Jérôme CORNILLON

Role: primary

Felipe SUAREZ, MD

Role: primary

Catherine PAILLARD

Role: primary

Marlène PASQUET

Role: primary

Pierre VANDE PERRE

Role: primary

Alban VILLATE, MD

Role: primary

Maude GAFFET

Role: primary

Other Identifiers

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22 HEMA 21

Identifier Type: -

Identifier Source: org_study_id