ITMO public health
Last update : 10/09/2015 | Version : 2 | ID : 2441
| General | |
| Identification | |
| Detailed name | French congenital neutropenia registry |
| CNIL registration number, number and date of CPP agreement, AFSSAPS (French Health Products Safety Agency) authorisation | CCTIRS : 16/05/1997 (modif juin 01), CNIL : 01-1084 (26/04/2001) |
| General Aspects | |
| Medical area |
Cancer research Hematology Rare diseases |
| Health determinants |
Genetic |
| Keywords | leukemic transformations, infectious risk, therapy, pharmacovigilance, risk factors, genetic, diagnosis |
| Scientific investigator(s) (Contact) | |
| Name of the director | Donadieu |
| Surname | Jean |
| Address | Hopital Trousseau 26 avenue du Dr Netter 75012 Paris |
| Phone | + 33 (0)1 44 73 60 62 |
| jean.donadieu@trs.ap-hop-paris.fr | |
| Unit | Service d’Hémato Oncologie Pédiatrique Centre de référence des déficits immunitaires héréditaires |
| Organization | APHP |
| Collaborations | |
| Funding | |
| Funding status |
Mixed |
| Details | Institut Necker Centre de référence, Chugai, Amgen, Association famille |
| Governance of the database | |
| Sponsor(s) or organisation(s) responsible | Hôpital Trousseau APHP |
| Organisation status |
Public |
| Additional contact | |
| Main features | |
| Type of database | |
| Type of database |
Morbidity registers |
| Additional information regarding sample selection. |
The cases are identified from clinical records obtained from pediatric hematology or general and specialist pediatric departments. These centers are consulted by telephone, post or on-site monitoring.
Genetics laboratories are also contacted and a work meeting is organized with them on a regular basis. |
| Database objective | |
| Main objective |
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 |
| Inclusion criteria |
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 |
| Population type | |
| Age |
Infant (28 days to 2 years) Early childhood (2 to 5 years) Childhood (6 to 13 years) Adolescence (13 to 18 years) Adulthood (19 to 24 years) Adulthood (25 to 44 years) Adulthood (45 to 64 years) Elderly (65 to 79 years) Great age (80 years and more) |
| Population covered |
Sick population |
| Gender |
Male Woman |
| Geography area |
National |
| Detail of the geography area | All of french metropolitan territory |
| Data collection | |
| Dates | |
| Date of first collection (YYYY or MM/YYYY) | 1995 |
| Size of the database | |
| Size of the database (number of individuals) |
< 500 individuals |
| Details of the number of individuals | 503 (in 12/2009) |
| Data | |
| Database activity |
Current data collection |
| Type of data collected |
Clinical data Paraclinical data Biological data |
| Clinical data (detail) |
Direct physical measures |
| Paraclinical data (detail) | bone x-ray or pancreatic imaging or brain MRI |
| Biological data (detail) | hematology |
| Presence of a biobank |
Yes |
| Contents of biobank |
DNA |
| Details of biobank content | DNA bank |
| Health parameters studied |
Health event/morbidity Health event/mortality Health care consumption and services |
| Care consumption (detail) |
Medical/paramedical consultation |
| Procedures | |
| Data collection method | The data is collected for prevalent and incident cases from clinical records obtained from pediatric hematology or general and specialist pediatric departments. |
| Classifications used | D70.0 D72.0 D72.9 |
| Participant monitoring |
Yes |
| Details on monitoring of participants | Follow-up concerns progression of the disease. Data is collected on the following themes: hematological parameters, severe infections, pregnancy, therapy, degree of social integration (in the workplace and at school) |
| Links to administrative sources |
No |
| Promotion and access | |
| Promotion | |
| Link to the document | http://tinyurl.com/PUBMED-SNCregistry |
| Description | Liste des publications dans Pubmed |
| Link to the document | http://tinyurl.com/HAL-SNCregistry |
| Description | Liste des publications dans HAL |
| Access | |
| Terms of data access (charter for data provision, format of data, availability delay) | Web |
| Access to aggregated data |
Access on specific project only |
| Access to individual data |
Access on specific project only |
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