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Study identifier: NCT05983991 Synced from ClinicalTrials.gov · July 29, 2026
● Recruiting

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

Condition: GATA2 Gene Mutation  ·  Sponsor: Institut Claudius Regaud

PhaseNA
Planned participants150
Who can joinAll sexes, N/A to no upper limit
Healthy volunteersYes

About this study

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…

This description comes directly from the study's public registry record.

Talk to the study team

Marlène PASQUET  ·  +33 5 34 55 86 08  ·  pasquet.m@chu-toulouse.fr

Always discuss trial participation with your own doctor first.

Locations (23)

CHU AngersAngers, FranceRecruiting
CHU BordeauxBordeaux, FranceRecruiting
CHU EstaingClermont-Ferrand, FranceRecruiting
CHU DijonDijon, FranceRecruiting
CHU de GrenobleGrenoble, FranceNot Yet Recruiting
CHRU - LilleLille, FranceRecruiting
IHOP LyonLyon, FranceRecruiting
CHU La TimoneMarseille, FranceRecruiting
CHU Arnaud de VilleneuveMontpellier, FranceRecruiting
CHU NantesNantes, FranceRecruiting
CHU de NiceNice, FranceNot Yet Recruiting
Hôpital Armand TrousseauParis, FranceRecruiting

+ 11 more locations — full list on the registry record.

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Source record: clinicaltrials.gov/study/NCT05983991