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 type | Interventional |
|---|---|
| Sex | All |
| Enrollment | 150 (estimated) |
| Sponsor | Institut Claudius Regaud Academic / other |
| Locations | 24 sites (Angers and 23 other locations) |
| Status | Recruiting |
| Started | December 7, 2023 |
| Main results expected | December 2033 |
| Study ends | December 2033 |
| Registry record updated | September 30, 2026 |
| Trial ID | NCT05983991 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
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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
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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
- Study coordinator: Marlène PASQUET
- Email: pasquet.m@chu-toulouse.fr
- Phone: +33 5 34 55 86 08
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.