RecruitingNot ApplicableNCT05983991

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


Sponsor

Institut Claudius Regaud

Enrollment

150 participants

Start Date

Dec 7, 2023

Study Type

INTERVENTIONAL

Conditions

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

Plain Language Summary

Simplified for easier understanding

This study is tracking people with a specific inherited genetic mutation in the GATA2 gene over time to better understand how it causes disease, including bone marrow failure and blood cancers, and to identify markers that predict disease progression. **You may be eligible if:** - You have a germline (inherited) GATA2 gene mutation, at any age - You are already being followed at a participating medical center - You or your parent/guardian is able to provide written consent **You may NOT be eligible if:** - Your GATA2 mutation is somatic (acquired, not inherited) - There are psychological, geographical, or social factors that would prevent you from providing consent or following the study procedures Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

OTHERBiological 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(23)

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

Institut Universitaire Du Cancer Toulouse - Oncopole (Iuct-O)

Toulouse, France

CHRU de Tours

Tours, France

CHRU Nancy Hôpital d'enfants

Vandœuvre-lès-Nancy, France

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NCT05983991