French congenital neutropenia registry FRESH-PEF2441-en Jean DONADIEU French congenital neutropenia registry FRESH-PEF2441-en 2441 FRESH-PEF2441 Jean DONADIEU ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP) Epidemiology France Portal (PEF) AMGEN CHUGAI PHARMA FRANCE INSTITUT NECKER null Jean;DONADIEU leukemic transformations infectious risk therapy pharmacovigilance risk factors genetic diagnosis Oncology Hematology Constitutional neutropaenia Biological determinants: Genetic predisposition Biological determinants The initial objective at the time of its creation is to ensure pharmacovigilance of the G-CSF received by these patients. It had nevertheless been designed as a disease registry, rather than a ""post-marketing"" treatment registry. The registry's objectives have since been extended: • Determination of risk factors of leukemic transformations in patients suffering from congenital neutropenia • Surveillance of access to genetic and antenatal diagnosis for diseases where genetic diagnoses are available • Surveillance of the progression of the infectious risk and therapy in patients suffering from congenital neutropenia • Pharmacovigilance of G-CSF: Benefit-risk ratio and search for optimum therapeutic approaches. • Evaluation of the efficacy and tolerance of bone marrow transplants in congenital neutropenia • Classification of congenital neutropenia • Determination of the correlation between the phenotype and genotype of patients. • Search for new genes involved in the molecular bases of these diseases • Mathematical modeling of granulopoiesis null France Individuals Patients population Male Female Infant (28 days to 2 years) Child, Preschool (2 to 5 years) Child (6 to 12 years) Young Adult (19 to 24 years) Adult (25 to 44 years) Middle Aged (45 to 64 years) Aged (65 to 79 years) Aged, 80 and over (80 years and more) All of the criteria must be present: 1. Patient suffering from severe chronic neutropenia: - permanent neutropenia: absolute polynuclear rate < 0.5 109/l, measured at at least three intervals over the three months prior to the study or absolute polynuclear rate < 1 109/l, measured at at least three intervals over the three months prior to the study and presence of either a severe infection (septicemia- cellulitis- bacterial or mycotic pneumonia) or chronic gingivo-stomatitis. - intermittent neutropenia: After a surveillance period of at least six weeks, the neutrophilia rate must be less than 0.5 109 /l in at least three blood counts. 2. Myelogram performed and cytological aspect compatible with the diagnosis (in the opinion of the registry's contact cytologist) 3. Subject aged over three months 4. Patients suffering from glycogen storage disease Ib, Shwachman Diamond syndrome or WHIM syndrome are all included 5. Consent by the patient and/or his/her parents EXCLUSION CRITERIA (except glycogen storage disease Ib, Shwachman Diamond syndrome, WHIM syndrome or large granular lymphocytosis LGL): - all types of neutropenia caused by drugs - all medical histories with chemotherapy - medullary aplasia, irrespective of its etiology (idiopathic, Fanconi syndrome, etc.)- anemia < 8gr/dl or thrombopenia (except inflammatory or iron-deficiency anemia, glycogen storage disease Ib and Shwachman Diamond syndrome). - progressive malignant pathology or medical history of malignant pathology - neutropenia linked to HIV infection - macrophage activation syndrome - initial myelodysplasia Clinical data Biological data Paraclinical data (non-biological) : Imaging D70.0 D72.0 D72.9 Health event/morbidity Health event/mortality Health care consumption and services Other < 500 individuals Converting or copying information into a structured record Observational Study Observational Study Morbidity registry 503 (in 12/2009) Unknown Restricted access Access on specific project only