Latest database descriptions

The main purpose of the registry is to produce, through active and exhaustive collection of cases, data enabling indicators to be calculated for monitoring population health (incidence, survival and prevalence). In this regard, the Registry takes part in the national cancer surveillance programme from the French Institute for Public Health Surveillance (InVS).
The Registry's data is included in the database of the French cancer registry network
(FRANCIM), which is managed by the Biostatistics Laboratory of the Lyon-Sud Faculty of Medicine in connection with the InVS. It is used to estimate cancer incidence across France as a whole and per region, and to study incidence trends over the last 25 years.
It is also used to estimate prevalence and analyse survival on a regular basis by the FRANCIM network for France and by the EUROCARE group for Europe.
The registry data is also sent at regular intervals to the International Agency for Research on Cancer (Lyon) for publication in Cancer Incidence in Five Continents from the first available five-year period.

The Registry takes part in cooperative studies conducted as part of the FRANCIM and EUROCARE networks aimed at evaluating medical practices in the population, providing recommendations at Consensus conferences and measuring their impact on public health. These studies focussed on the following sites: thyroid, breast, lung, prostate, testicle and skin melanoma.

Objectives of the registry in terms of research:
- Social inequalities and access to healthcare;
- Reintegration of patients in long-term remission or who have recovered from cancer;
- Pesticide exposure and cancer risk in the agricultural environment (EPI95 cohort).

-Obtain national epidemiological data on the disease, particularly its morbidity and, over the longer term, its mortality, which reflect the quality of overall patient care
-Monitor treatment trends over time - especially the increasing use of orally administered active chelators and the spread of new techniques for evaluating tissue overload by heart and liver MRIs.
-Compare conventional treatment results combining transfusions and iron chelation with those obtained from hematopoietic stem cell transplants.
-Conduct more basic research projects

Objectives of the registry in the field of public health:
- To collect epidemiological data on Pompe disease in France and calculate exactly how many patients are affected by this disease.
- To assess the tolerance and efficacy of Myozyme, the only treatment currently effective against Pompe disease. However, standardised long-term follow-up for patients is necessary due the significant cost on the healthcare system. Homogeneous and standardised information on patients suffering from Pompe disease and treated with Myozyme is collected every six months for patients undergoing treatment and every twelve months for other patients.

Objectives of the registry in the field of clinical research:
-This registry is also aiming to improve knowledge on the natural history of the disease in untreated patients, as well as determine the frequency and severity of unusual disease manifestations (cerebral arterial malformations, digestive problems, sphincter problems, etc.).

Objectives of the registry in the therapeutic field:
- It is probable that other therapeutic approaches will be developed in the years to come, at which point a separate registry will certainly have a defining role in recruiting patients for these future trials, and may facilitate the comparison of results with results obtained from patients undergoing enzyme replacement therapy.

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.