FGDR - The French Gaucher disease registry

Head :
Belmatoug Nadia, Centre de référence sur les maladies lysosomales (coordinatrice)
Stirnemann Jérôme, Centre de Référence des Maladies Lysosomales (CRML) Laboratoire de biostatistique (Pr France Mentré) - INSERM - UMR 738 - Hôpital Bichat

Last update : 03/07/2012 | Version : 1 | ID : 56


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General Aspects
Scientific investigator(s) (Contact)
Governance of the database
Additional contact
Type of database
Database objective
Population type
Size of the database
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Detailed name The French Gaucher disease registry
Sign or acronym FGDR
CNIL registration number, number and date of CPP agreement, AFSSAPS (French Health Products Safety Agency) authorisation CNIL 05-1099
General Aspects
Medical area Hematology
Internal medicine
Rare diseases
Health determinants Genetic
Others (details) Gaucher's disease
Keywords pharmacoeconomics
Scientific investigator(s) (Contact)
Name of the director Belmatoug
Surname Nadia
Address Service de médecine interne-Hôpital Beaujon - 100bd du général leclerc - 92110 Clichy
Phone + 33 (0)1 40 87 52 86
Email nadia.belmatoug@bjn.aphp.fr
Unit Centre de référence sur les maladies lysosomales (coordinatrice)
Organization Assistance Publique des Hôpitaux de
Name of the director Stirnemann
Surname Jérôme
Email jerome.stirnemann@jvr.aphp.fr
Unit Centre de Référence des Maladies Lysosomales (CRML)
Laboratoire de biostatistique (Pr France Mentré) - INSERM - UMR 738 - Hôpital Bichat
Organization Assistance Publique des Hôpitaux de
Funding status Mixed
Governance of the database
Sponsor(s) or organisation(s) responsible Assistance Publique des Hopitaux de Paris
Organisation status Public
Additional contact
Main features
Type of database
Type of database Morbidity registers
Database recruitment is carried out by an intermediary A selection of health institutions and services
Database recruitment is carried out as part of an interventional study No
Additional information regarding sample selection. Identifying cases is done by cross-checking the following data sources:
- data from hospital doctors centralizing the data towards the reference center
-data from biological laboratories specializing in medical diagnostic and biological follow-up of patients with Gaucher's disease
- data from the CNAM via le National Secretariat for Hereditary Metabolic Disorders (SNMMH)
Database objective
Main objective - Carry out a descriptive epidemiological analysis of the population suffering from Gaucher's disease in France (prevalence estimated at 1/100,000) which makes it possible to describe the natural history of the disease, apprehend and analyze the care practices, and evaluate them.
- Develop lines of research:
* Epidemiology and modeling of the change in biological and clinical markers with and without treatment
* Pregnancy and Gaucher's disease
* Parkinson's disease and Gaucher's disease
* Monoclonal peak and Gaucher's disease
* Type-3 Gaucher's disease
* Gaucher's disease in children
- Evaluate the efficacy and the tolerance of the treatments, optimize them and carry out pharmacoeconomic studies
- Establish any genotype-phenotype relations
- Detect predictive factors of complications and identify the biomarkers making it possible to follow the disease with and without treatment
- Select the patients for new therapeutic options
Inclusion criteria All of the patients diagnosed and/or followed for Gaucher's disease over all of France. Gaucher's disease is confirmed by the dosage of the enzyme activity of the glucocerebrosidase.
Population type
Age Newborns (birth to 28 days)
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
Geography area National
Detail of the geography area France
Data collection
Date of first collection (YYYY or MM/YYYY) 1991
Size of the database
Size of the database (number of individuals) [500-1000[ individuals
Details of the number of individuals 560 (31/01/2011)
Database activity Current data collection
Type of data collected Clinical data
Paraclinical data
Biological data
Administrative data
Clinical data (detail) Direct physical measures
Paraclinical data (detail) Follow-up radiological paraclinical examinations (MRI, Scintigraphy, osteodensitometry, ultrasound, etc.)
Biological data (detail) Diagnostics and biological follow-up of the disease
Administrative data (detail) health insurance reimbursement data
Presence of a biobank No
Health parameters studied Health event/morbidity
Health event/mortality
Health care consumption and services
Care consumption (detail) Hospitalization
Medical/paramedical consultation
Medicines consumption
Data collection method pharmacoeconomics
Participant monitoring Yes
Details on monitoring of participants Subjects are followed for an undetermined duration using the various sources of data which are: - medical dossiers of hospital centers and from the family doctor - the social security fund for medical care and medication reimbursement data - skills centers
Links to administrative sources Yes
Linked administrative sources (detail) CNAM data
Promotion and access
Link to the document http://www.ncbi.nlm.nih.gov/pubmed?term
Link to the document http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2945057/
Link to the document http://cetl.net/IMG/pdf/Stirnemann_Registre_Gaucher_CETG_2010.pdf
Link to the document http://www.ojrd.com/content/7/1/77/abstract
Terms of data access (charter for data provision, format of data, availability delay) Access subject to authorization from the scientific board of the registry, formed by the members of the Evaluation Committee of the Treatment for Gaucher's disease
Access to aggregated data Access on specific project only
Access to individual data Access on specific project only

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