Follows people with GATA2 gene mutation to study how blood changes over time
Studies blood and bone marrow samples from people with a GATA2 gene mutation over time.
Plain-language title generated from the registry record
Registry title: Study for Characterisation of Predictive Parameters of Clonal Evolution in Subjects With GATA2 Germline Mutation
Key facts
- Where
- Angers, Bordeaux, Caen, Clermont-Ferrand, Dijon, Grenoble, Lille, Lyon, Marseille, Montpellier, Nantes, Nice, Paris, Rennes, Rouen, Saint-Priest-en-Jarez, Sèvres, Strasbourg, Toulouse, Tours, and Vandœuvre-lès-Nancy, FranceSee the 24 sites
Where in France
- CHU AngersAngers, FranceTaking people
- CHU BordeauxBordeaux, FranceTaking people
- CHU de CAENCaen, FranceNot yet recruiting
- CHU EstaingClermont-Ferrand, FranceTaking people
- CHU DijonDijon, FranceTaking people
- CHU de GrenobleGrenoble, FranceTaking people
- CHRU LilleLille, FranceTaking people
- IHOP LyonLyon, FranceTaking people
- CHU La TimoneMarseille, FranceTaking people
- CHU Arnaud de VilleneuveMontpellier, FranceTaking people
- CHU NantesNantes, FranceTaking people
- CHU de NiceNice, FranceTaking people
- Hôpital Armand-TrousseauParis, FranceTaking people
- Hopital Robert DebreParis, FranceTaking people
- Hopital Saint LouisParis, FranceTaking people
- CHU RennesRennes, FranceTaking people
- CHU Hôpitaux de Rouen - Charles NicolleRouen, FranceTaking people
- CHU Saint EtienneSaint-Priest-en-Jarez, FranceTaking people
- Hôpital NeckerSèvres, FranceTaking people
- CHU StrasbourgStrasbourg, FranceTaking people
- CHU Purpan - Hôpital des EnfantsToulouse, FranceTaking people
- Institut Universitaire Du Cancer Toulouse - Oncopole (Iuct-O)Toulouse, FranceTaking people
- CHRU de ToursTours, FranceTaking people
- CHRU Nancy Hôpital d'enfantsVandœuvre-lès-Nancy, FranceTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Institut Claudius Regaud
- Trial code
- NCT05983991
- Record updated
- 30 September 2026
- Original description
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.Read full original descriptionShow less
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.
Inclusion: All subject, at any age, with a germline GATA2 mutation; Patient followed in the center within a standard of care procedure or clinical trial; 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; For French patients: patient affiliated to a Social Health Insurance.
Exclusion: GATA2 somatic mutation; 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; 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.