Latest database descriptions

1) Descriptive and analytical epidemiology
• Estimate the prevalence, incidence, geographical distribution and number of patients suffering from cystic fibrosis in France
• Estimate mortality and life expectancy at different ages
• Determine the mortality risk factors
• Describe the medical and socio-demographic characteristics of the population, especially elements concerning diagnosis, anthropometry, spirometry, microbiology, morbidity, transplants and treatment, as well as the educational and professional situations of patients.
The descriptive analysis of this data is finalized by the publication of an annual report and center reports and is subject to other publications, posters, communication during congresses and information given to families and patients via the association's magazine.

2) Evaluation of healthcare practices
The data is used to evaluate the quality of treatment, health care and diagnosis of cystic fibrosis. It also provides responses to the fundamental question on equity in these three fields, by comparing these practices to the national diagnosis and care protocol for this rare disease. The following is also carried out:
• analysis of survival factors by introducing the treatment location and type of caring for example, in addition to the traditional variables.
• evaluation of the socioeconomic cost of cystic fibrosis by trying to match resources to the constantly changing needs.
• evaluation of neonatal screening (Cazes et al, ECFS 2005)
• development of a Program for Improving the Quality of cystic fibrosis health care by looking to the benchmarks extracted from the registry (mainly the FEV1 and BMI).

3) The registry's objectives in the fields of therapy and research
• Provision of a database for physicians and researchers.
• Search for genotype-phenotype correlations (Duguépéroux et al, 2002, 2004, 2005).
• Setup of thematic surveys, for example:
• "Pregnancy" survey: an initial stage has consisted in a retrospective study of pregnancies listed in France between 1980 and 1995. At the end of this study, a prospective registry was set up in 1996 under the observatory, involving an additional questionnaire for any pregnancy reported in the observatory's data collection. The retrospective study and first few years of prospective data collection led to a publication (Gillet et al, 2002).
• Cross-disciplinary study on "transplants" conducted in 2000 in liaison with the French Biomedicine Agency. In addition to the findings, it determined a number of important variables to collect and integrate into the registry.
• "Cepacia" survey: the Cepacia observatory was set up in 1993 by the "Vaincre la Mucoviscidose" association. Its Scientific Director is Prof. G. Chabanon. This observatory is one of the thematic observatories of the registry, with which it shares some data, including
the main characteristics for identifying patients; the Cepacia observatory networks with clinicians and microbiologists in healthcare centers. Its remit involves, on the one hand, conducting epidemiological surveillance of colonizations and infections by Burkholderia cepacia complex and similar bacteria in cystic fibrosis sufferers; on the other hand, building a national reference strain bank for use by the scientific community.
• "Mucoviscidose, Famille et Société" survey: organized by the French National Institute for Demographic Studies (Ined), Reference Center for Rare Diseases, "Cystic Fibrosis", of Nantes teaching hospital and the "Vaincre la Mucoviscidose" association. This aims to gather the views of the patients themselves - children, teenagers and adults - of their lifestyles and conditions: What are their family situations? What are their residential, academic and professional pathways? What aspects are linked to social recognition of the disease, and the benefits and help received? What are their possible functional limitations and/or activity restrictions? How is their social life characterized, how do they perceive the disease and how do they get on with their usual care center? What are their needs, expectations and aspirations? This information gleaned from patients will then be compared against medical data in the French Cystic Fibrosis Registry from the Cystic Fibrosis Skills and Resources Centers (CRCMs). The purpose of this study is to set up a five-year national survey of the Registry, created and managed by the "Vaincre la Mucoviscidose" association. The project comprises two stages: firstly a preliminary feasibility stage, when a pilot survey is conducted among patients followed up in the Roscoff and Strasbourg CRCMs; secondly a national survey will be conducted among all of the patients followed up by the CRCMs across France and re-launched every five years.

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

The public health objectives of this registry are to:
- evaluate the incidence and prevalence of the disease
- determine the risk factors of the disease manifesting and the possible prevention means
- evaluate death rates in the population
- The incidence and prevalence of long-term sequelae of this disease (pituitary affects – sclerosing cholangitis – respiratory failure – neurological and psychiatric problems) and to evaluate prevention methods
- Evaluate the impact of therapies on the long-term progression of the disease - particularly mortality - and long-term sequelae
- Enable the implementation of basic biological research on broad samples of patients whose progressive profiles have been determined. Such studies have two objectives: The determination of factors for the disease manifesting and the improvement of determining factors of the disease's progression - particularly the sequelae.

1) Health surveillance: the main objective is to evaluate the incidence of CNS primitive tumors from exhaustive and continuous cases recording, to study cases distribution by age and sex, for different histologic types in order to compare this incidence to national data, and study geographic and temporal variations of this incidence.
2) Epidemiological research: other objectives are to further research in the CNS primitive tumors etiology domain through risk factors research, case-control epidemiological studies on general population about the role of intrinsic and extrinsic factors, which are environmental and professional factors such as pesticides, electromagnetic fields, solvents, nitrosamines or petroleum products. Moreover, we will have the possibility to cross epidemiological and biological data allowing to research biological factors of vulnerability to environmental agents exposition.
3) Participate to the evaluation of therapeutic care: knowledge of the health care networks and caring periods, as well as health care activities indicators surveillance (biopsy rates, anatomo-pathologies practices, diagnosis circumstances) are other long-term objectives of Gironde CNS tumor register. A first approach has begun by a systematic follow-up of the vital status and death causes of patients suffering by these pathologies.