GATA2 Gene MutationGATA-2NCT05983991
Study for Characterisation of Predictive Parameters of Clonal Evolution in Subjects With GATA2 Germline Mutation
A study testing Biological samples (blood and bone marrow samples). in people with GATA2 Gene Mutation, run by Institut Claudius Regaud at 24 sites in France.
Trial summary
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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- GATA2 Gene Mutation
- What is being tested?
- Biological samples (blood and bone marrow samples).
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 150 participants
- Where
- 24 sitesFrance
- Study dates
- 7 Dec 2023to Dec 2033
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- All subject, at any age, with a germline GATA2 mutation.
- Patient followed in the center within a standard of care procedure or clinical trial.
- 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.
- For French patients: patient affiliated to a Social Health Insurance.
Who cannot join
- GATA2 somatic mutation.
- 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.
- 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.
Trial locations and contacts
24 sites in 1 country. Contact the study team or a site near you to ask about taking part.
24 sites in 1 country
France24 sites, 24 recruiting
- Recruiting
CHU Angers
Angers
Sylvie FRANCOIS, 02 41 35 44 75, syfrancois@chu-angers.fr
- Recruiting
CHU Bordeaux
Bordeaux
Pierre-Yves DUMAS, 05 57 64 91 62, pierre-yves.dumas@chu-bordeaux.fr
- Not yet recruiting
CHU de Caen
Caen, 14000
Sylvain CHANTEPIE, MD, +33 2 31 27 21 22, chantepie-s@chu-caen.fr
- Recruiting
CHU Estaing
Clermont-Ferrand
Justyna KANOLD, 04 73 75 00 09, jkanold@chu-clermontferrand.fr
- Recruiting
CHU Dijon
Dijon
Florent NEUMANN, florent.neumann@chu-dijon.fr
- Recruiting
CHU de Grenoble
Grenoble, 38043
Claire FREYCON, MD, 04 76 76 59 11, cfreycon@chu-grenoble.fr
- Recruiting
CHRU - Lille
Lille
Louis TERRIOU, 03 20 44 44 33, Louis.TERRIOU@chu-lille.fr
- Recruiting
IHOP Lyon
Lyon
Cécile RENARD, 04 69 16 65 70, cecile.renard@ihope.fr
- Recruiting
CHU La Timone
Marseille
Vincent BARLOGIS, 04 01 38 68 21, vincent.barlogis@ap-hm.fr
- Recruiting
CHU Arnaud de Villeneuve
Montpellier
Eric JEZIORSKI, 04 67 33 66 03, e-jeziorski@chu-montpellier.fr
- Recruiting
CHU Nantes
Nantes
Caroline THOMAS, 02 40 08 36 10, caroline.thomas@chu-nantes.fr
- Recruiting
CHU de Nice
Nice, 06202
Pierre-Simon ROHRLICH, MD, 04 92 03 92 68, rohrlich.ps@chu-nice.fr
- Recruiting
Hôpital Armand Trousseau
Paris
Jean DONADIEU, 01 44 73 60 62, jean.donadieu@aphp.fr
- Recruiting
Hôpital Robert Debré
Paris
Saba AZARNOUSH, 01 40 03 53 88, saba.azarnoush@aphp.fr
- Recruiting
Hôpital Saint-Louis
Paris
Claire FIESCHI, 01 42 49 96 89, claire.fieschi@aphp.fr
- Recruiting
CHU Rennes
Rennes
Virginie GANDEMER, 02 99 26 58 35, virginie.gandemer@chu-rennes.fr
- Recruiting
CHU Hôpitaux de Rouen - Charles Nicolle
Rouen
Nimrod BUCHBINDER, 02 32 88 81 91, nimrod.buchbinder@chu-rouen.fr
- Recruiting
CHU Saint-Etienne
Saint-Priest-en-Jarez
Jérôme CORNILLON, 04 77 91 70 60, jerome.cornillon@chu-st-etienne.fr
- Recruiting
Hôpital Necker
Sèvres, 75015
Felipe SUAREZ, MD, Professor, 01 44 49 53 68, felipe.suarez@aphp.fr
- Recruiting
CHU Strasbourg
Strasbourg
Catherine PAILLARD, 03 88 12 88 91, catherine.paillard@chru-strasbourg.fr
- Recruiting
CHU Purpan - Hôpital des Enfants
Toulouse
Marlène PASQUET, 05 34 55 86 08, pasquet.m@chu-toulouse.fr
- Recruiting
Institut Universitaire Du Cancer Toulouse - Oncopole (Iuct-O)
Toulouse
Pierre VANDE PERRE, 05 31 15 52 26, vandeperre.pierre@iuct-oncopole.fr
- Recruiting
CHRU de Tours
Tours, 37044
Alban VILLATE, MD, 02 47 47 37 12, a.villate@chu-tours.fr
- Recruiting
CHRU Nancy Hôpital d'enfants
Vandœuvre-lès-Nancy
Maude GAFFET, 03 83 15 47 39, m.gaffet@chru-nancy.fr
About this study
Official title: GATA-2 Project: Retrospective and Prospective Exploratory Study for Characterisation of Predictive Parameters of Clonal Evolution in Subjects With GATA2 Germline Mutation
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.
Read more
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) will be sent to sponsor's centralized unit for analysis.
- Conditions
- GATA2 Gene Mutation
- Being tested
- Biological samples (blood and bone marrow samples).
- Keywords
- GATA2 Gene Mutation, Myelodysplastic Syndromes, Acute myeloid Leukemia, Spectrum 2
- Medical subject headings
- Myelodysplastic Syndromes, Leukemia, Myeloid, Acute
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Biological samples (blood and bone marrow samples).Other
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.
| Study group | Role | What they receive |
|---|---|---|
| Subject with a germline GATA2 mutation (Interventional prospective cohort) | Experimental | Not described Receives: Other: Biological samples (blood and bone marrow samples). |
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: 5 years for each patient
Secondary outcomes (3)
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).
Measured: 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.
Measured: 5 years for each patient
Disease Free Survival (DFS) defined as the time from Leukemia diagnosis until first /relapse or death from any cause.
Measured: 5 years for each patient
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Aug 2023
- Study start7 Dec 2023
- Primary completionDec 2033 (estimated)
- Study completionDec 2033 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for GATA2 Gene MutationStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 150 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Institut Claudius Regaud
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05983991
- Sponsor's protocol ID
- 22 HEMA 21
- Acronym
- GATA-2
- Status last verified
- Sep 2026
- First submitted
- 31 Jul 2023
- Last updated
- 30 Sep 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 30 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- GATA-2 Project: Retrospective and Prospective Exploratory Study for Characterisation of Predictive Parameters of Clonal Evolution in Subjects With GATA2 Germline Mutation
- ClinicalTrials.gov ID
- NCT05983991
- Acronym / sponsor ID
- GATA-2 / 22 HEMA 21
- Conditions
- GATA2 Gene Mutation
- Keywords
- GATA2 Gene Mutation, Myelodysplastic Syndromes, Acute myeloid Leukemia, Spectrum 2
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- Institut Claudius RegaudUniversity, hospital or other
- Study start
- 7 Dec 2023 (actual)
- Primary completion
- Dec 2033 (estimated)
- Study completion
- Dec 2033 (estimated)
- First posted
- 9 Aug 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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) will be sent to sponsor's centralized unit for analysis.
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Subject with a germline GATA2 mutation (Interventional prospective cohort) | Experimental | Other: Biological samples (blood and bone marrow samples). |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- All subject, at any age, with a germline GATA2 mutation.
- Patient followed in the center within a standard of care procedure or clinical trial.
- 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.
- For French patients: patient affiliated to a Social Health Insurance.
Key exclusion criteria (3 listed)
- GATA2 somatic mutation.
- 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.
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| 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. | Other | Subject with a germline GATA2 mutation (Interventional prospective cohort) |
Primary outcome
Time to appearance of spectrum 2, defined as the delay between date of birth and appearance of an event classified as spectrum 2.
Time frame: 5 years for each patient
Spectrum 2 corresponds to MDS (Myelodysplastic Syndromes) with excess blasts, AML (Acute myeloid Leukemia) or CMML (Chronic myelomonocytic leukemia).
3 secondary outcomes
Time to appearance of spectrum 1, defined as the delay between date of birth and appearance of spectrum 1.
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Sep 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
24 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Biological samples (blood and bone marrow samples). in people with GATA2 Gene Mutation, run by Institut Claudius Regaud at 24 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 30 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 24 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Marlène PASQUET (+33 5 34 55 86 08, pasquet.m@chu-toulouse.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Time to appearance of spectrum 2, defined as the delay between date of birth and appearance of an event classified as spectrum 2. (time frame: 5 years for each patient). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Sep 2026.