Clinical trial Recruiting at 23 sites Interventional

Characterizing predictive parameters of GATA2 gene mutation

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

Run by Institut Claudius Regaud · NCT05983991 · Data updated 2026-11-12

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

Study typeInterventional
SexAll
Enrollment150 (estimated)
SponsorInstitut Claudius Regaud
Academic / other
Locations24 sites (Angers and 23 other locations)
StatusRecruiting
StartedDecember 7, 2023
Main results expectedDecember 2033
Study endsDecember 2033
Registry record updatedSeptember 30, 2026
Trial IDNCT05983991 on ClinicalTrials.gov

Is this trial a fit for you?

Likely a good fit

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

Probably 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.

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

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

Who can join: the full rules

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 it's running

  • CHU Angers
    Angers, France
    Recruiting
  • CHU Bordeaux
    Bordeaux, France
    Recruiting
  • CHU Estaing
    Clermont-Ferrand, France
    Recruiting
  • CHU Dijon
    Dijon, France
    Recruiting
  • CHU de Grenoble
    Grenoble, France
    Recruiting
  • CHRU - Lille
    Lille, France
    Recruiting
Show 18 more locations
  • IHOP Lyon
    Lyon, France
    Recruiting
  • CHU La Timone
    Marseille, France
    Recruiting
  • CHU Arnaud de Villeneuve
    Montpellier, France
    Recruiting
  • CHU Nantes
    Nantes, France
    Recruiting
  • CHU de Nice
    Nice, France
    Recruiting
  • Hôpital Armand Trousseau
    Paris, France
    Recruiting
  • Hôpital Robert Debré
    Paris, France
    Recruiting
  • Hôpital Saint-Louis
    Paris, France
    Recruiting
  • CHU Rennes
    Rennes, France
    Recruiting
  • CHU Hôpitaux de Rouen - Charles Nicolle
    Rouen, France
    Recruiting
  • CHU Saint-Etienne
    Saint-Priest-en-Jarez, France
    Recruiting
  • Hôpital Necker
    Sèvres, France
    Recruiting
  • CHU Strasbourg
    Strasbourg, France
    Recruiting
  • CHU Purpan - Hôpital des Enfants
    Toulouse, France
    Recruiting
  • Institut Universitaire Du Cancer Toulouse - Oncopole (Iuct-O)
    Toulouse, France
    Recruiting
  • CHRU de Tours
    Tours, France
    Recruiting
  • CHRU Nancy Hôpital d'enfants
    Vandœuvre-lès-Nancy, France
    Recruiting
  • CHU de Caen
    Caen, France
    Not yet recruiting

Study contacts

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

How to take part

  1. Review the eligibility criteria above with your treating physician.
  2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
  3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.
Last reviewed 2026-11-14 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.