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RECRUITINGINTERVENTIONAL

Study for Characterisation of Predictive Parameters of Clonal Evolution in Subjects With GATA2 Germline Mutation

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

Important: This information is not medical advice. Talk to your doctor about whether a clinical trial is right for you.

About This Trial

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.

Who May Be Eligible (Plain English)

Who May Qualify: 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 willing to sign a consent form. For minor patients: patient assent and legal guardian(s) written willing to sign a consent form 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. Who Should NOT Join This Trial: 1. GATA2 somatic mutation. 2. Any psychological, familial, geographic or social situation, according to the judgment of investigator, potentially preventing the provision of willing to sign a consent form 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. Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language
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.

Treatments Being Tested

OTHER

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.

Locations (20)

CHU Angers
Angers, France
CHU Bordeaux
Bordeaux, France
CHU Estaing
Clermont-Ferrand, France
CHU Dijon
Dijon, France
CHU de Grenoble
Grenoble, France
CHRU - Lille
Lille, France
IHOP Lyon
Lyon, France
CHU La Timone
Marseille, France
CHU Arnaud de Villeneuve
Montpellier, France
CHU Nantes
Nantes, France
CHU de Nice
Nice, France
Hôpital Armand Trousseau
Paris, France
Hôpital Robert Debré
Paris, France
Hôpital Saint-Louis
Paris, France
CHU Rennes
Rennes, France
CHU Hôpitaux de Rouen - Charles Nicolle
Rouen, France
CHU Saint-Etienne
Saint-Priest-en-Jarez, France
Hôpital Necker
Sèvres, France
CHU Strasbourg
Strasbourg, France
CHU Purpan - Hôpital des Enfants
Toulouse, France