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Characterizing predictive parameters of GATA2 gene mutation

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

Not applicable Interventional Institut Claudius Regaud · NCT05983991

This study is trying to understand how the GATA2 gene mutation affects people over time by collecting blood and bone marrow samples from 250 patients with the mutation.

Quick facts

PhaseNot applicable
Study typeInterventional
Enrollment150 (estimated)
SexAll
SponsorInstitut Claudius Regaud Academic / other
Locations23 sites (Angers and 22 other locations)
Trial IDNCT05983991 on ClinicalTrials.gov

What this trial studies

This study aims to characterize predictive parameters of clonal evolution in patients with a germline GATA2 mutation. It involves a multi-site, open-label cohort of 250 patients, including both previously identified and newly diagnosed individuals with the mutation. Biological samples, including blood and bone marrow, will be collected from participants over a five-year period to analyze the mutation's effects. The study will help understand the progression and implications of the GATA2 mutation in affected individuals.

Who should consider this trial

Good fit: Ideal candidates for this study are individuals of any age with a confirmed germline GATA2 mutation.

Not a fit: Patients with somatic GATA2 mutations or those unable to provide informed consent due to psychological or legal reasons may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved understanding and management of conditions associated with GATA2 mutations, potentially enhancing patient outcomes.

How similar studies have performed: While studies on GATA2 mutations exist, this specific approach to characterizing predictive parameters of clonal evolution is relatively novel.

Eligibility criteria

Show full inclusion / exclusion criteria 
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.

Where this trial is running

Angers and 22 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions GATA2 Gene MutationMyelodysplastic SyndromesAcute myeloid LeukemiaSpectrum 2
Last reviewed 2026-06-09 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.