Study for Characterisation of Predictive Parameters of Clonal Evolution in Subjects With GATA2 Germline Mutation (GATA-2)

December 19, 2025 updated by: Institut Claudius Regaud

GATA-2 Project: Retrospective and Prospective Exploratory Study for Characterisation of Predictive Parameters of Clonal Evolution in Subjects With GATA2 Germline Mutation

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Estimated)

150

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • France
      • Angers, France
      • Bordeaux, France
      • Clermont-Ferrand, France
      • Dijon, France
      • Grenoble, France, 38043
        • Not yet recruiting
        • CHU de Grenoble
        • Contact:
      • Lille, France
      • Lyon, France
      • Marseille, France
      • Montpellier, France
      • Nantes, France
      • Nice, France, 06202
        • Not yet recruiting
        • CHU de Nice
        • Contact:
      • Paris, France
        • Recruiting
        • Hôpital Robert Debré
        • Contact:
      • Paris, France
        • Recruiting
        • Hôpital Saint-Louis
        • Contact:
      • Paris, France
        • Recruiting
        • Hôpital Armand Trousseau
        • Contact:
      • Rennes, France
      • Rouen, France
      • Saint-Priest-en-Jarez, France
      • Strasbourg, France
      • Sèvres, France, 75015
        • Not yet recruiting
        • Hopital Necker
        • Contact:
      • Toulouse, France
        • Recruiting
        • Institut Universitaire Du Cancer Toulouse - Oncopole (Iuct-O)
        • Contact:
      • Toulouse, France
        • Recruiting
        • CHU Purpan - Hôpital des Enfants
        • Contact:
      • Tours, France, 37044
        • Not yet recruiting
        • CHRU de Tours
        • Contact:
      • Vandœuvre-lès-Nancy, France
        • Recruiting
        • CHRU Nancy Hôpital d'enfants
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Other
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Subject with a germline GATA2 mutation (Interventional prospective cohort)
Other: 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Time to appearance of spectrum 2, defined as the delay between date of birth and appearance of an event classified as spectrum 2.
Time Frame: 5 years for each patient
Spectrum 2 corresponds to MDS (Myelodysplastic Syndromes) with excess blasts, AML (Acute myeloid Leukemia) or CMML (Chronic myelomonocytic leukemia).
5 years for each patient

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Time to appearance of spectrum 1, defined as the delay between date of birth and appearance of spectrum 1.
Time Frame: 5 years for each patient
Spectrum 1 corresponds to hypoplastic marrow and/or low-grade MDS (without excess blasts).
5 years for each patient
Time to appearance of first hematological event defined by the delay between date of birth and appearance of first hematological.
Time Frame: 5 years for each patient
5 years for each patient
Disease Free Survival (DFS) defined as the time from Leukemia diagnosis until first /relapse or death from any cause.
Time Frame: 5 years for each patient
5 years for each patient

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Institut Claudius Regaud

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

December 7, 2023

Primary Completion (Estimated)

December 1, 2033

Study Completion (Estimated)

December 1, 2033

Study Registration Dates

First Submitted

July 31, 2023

First Submitted That Met QC Criteria

July 31, 2023

First Posted (Actual)

August 9, 2023

Study Record Updates

Last Update Posted (Actual)

December 26, 2025

Last Update Submitted That Met QC Criteria

December 19, 2025

Last Verified

June 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 22 HEMA 21

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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