- French congenital neutropenia registry

Head :
Donadieu Jean, Service d’Hémato Oncologie Pédiatrique Centre de référence des déficits immunitaires héréditaires

Last update : 10/09/2015 | Version : 2 | ID : 2441

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Métadonnées
Identification
General Aspects
Collaborations
Funding
Governance of the database
Scientific investigator(s) (Contact)
Additional contact
Type of database
Database objective
Population type
Dates
Size of the database
Data
Procedures
Promotion
Access
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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
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
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
Email jean.donadieu@trs.ap-hop-paris.fr
Unit Service d’Hémato Oncologie Pédiatrique Centre de référence des déficits immunitaires héréditaires
Organization APHP
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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