An interventional study of Biological samples (blood and bone marrow samples). in GATA2 Gene Mutation, sponsored by Institut Claudius Regaud. Recruiting at 24 sites in France. Per ClinicalTrials.gov, last updated 2026-09-30.
Sponsored by Institut Claudius Regaud · Not applicable, Interventional, and Other
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:
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:
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.
Exclusion Criteria:
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.
Time to appearance of spectrum 2, defined as the delay between date of birth and appearance of an event classified as spectrum 2.
Spectrum 2 corresponds to MDS (Myelodysplastic Syndromes) with excess blasts, AML (Acute myeloid Leukemia) or CMML (Chronic myelomonocytic leukemia).
Time frame: 5 years for each patient
Time to appearance of spectrum 1, defined as the delay between date of birth and appearance of spectrum 1.
Spectrum 1 corresponds to hypoplastic marrow and/or low-grade MDS (without excess blasts).
Time frame: 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
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
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Institut Claudius Regaud