Clinical trial NCT05983991: Study for Characterisation of Predictive Parameters of Clonal Evolution in Subjects With GATA2 Germline 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
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: GATA2 Gene Mutation
Keywords: GATA2 Gene Mutation
Myelodysplastic Syndromes
Acute myeloid Leukemia
Spectrum 2
Lead sponsor: Institut Claudius Regaud
Sponsor class: OTHER
First posted: 2023-08-09
Enrollment: 150
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: OTHER

Brief 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.

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.


Eligibility 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.

Primary outcomes:
measure: Time to appearance of spectrum 2, defined as the delay between date of birth and appearance of an event classified as spectrum 2.
timeFrame: 5 years for each patient
Secondary outcomes:
measure: Time to appearance of spectrum 1, defined as the delay between date of birth and appearance of spectrum 1.
timeFrame: 5 years for each patient
measure: Time to appearance of first hematological event defined by the delay between date of birth and appearance of first hematological.
timeFrame: 5 years for each patient
measure: Disease Free Survival (DFS) defined as the time from Leukemia diagnosis until first /relapse or death from any cause.
timeFrame: 5 years for each patient
Other outcomes:
Locations:
city: Angers
country: France
facility: CHU Angers
city: Bordeaux
country: France
facility: CHU Bordeaux
city: Clermont-Ferrand
country: France
facility: CHU Estaing
city: Dijon
country: France
facility: CHU Dijon
city: Lille
country: France
facility: CHRU - Lille
city: Lyon
country: France
facility: IHOP Lyon
city: Marseille
country: France
facility: CHU La Timone
city: Montpellier
country: France
facility: CHU Arnaud de Villeneuve
city: Nantes
country: France
facility: CHU Nantes
city: Paris
country: France
facility: Hôpital Armand Trousseau
city: Paris
country: France
facility: Hôpital Robert Debré
city: Paris
country: France
facility: Hôpital Saint-Louis
city: Rennes
country: France
facility: CHU Rennes
city: Rouen
country: France
facility: CHU Hôpitaux de Rouen - Charles Nicolle
city: Saint-Priest-en-Jarez
country: France
facility: CHU Saint-Etienne
city: Strasbourg
country: France
facility: CHU Strasbourg
city: Toulouse
country: France
facility: CHU Purpan - Hôpital des Enfants
city: Toulouse
country: France
facility: Institut Universitaire Du Cancer Toulouse - Oncopole (Iuct-O)
city: Vandœuvre-lès-Nancy
country: France
facility: CHRU Nancy Hôpital d'enfants
Study officials:
References: