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Collection and evaluation of epidemiological data on rare diseases in Europe: experience of NEPHIRD-EUROCAT collaboration

Background: The studies on the epidemiological characteristics of rare disorders are limited, because they require the analysis of large populations and a well-organised diagnostic network. To bring together data on the individuals affected by rare genetic disorders and to promote the research to the causes and prevention of congenital anomalies the EUROCAT network of population-based registries for the surveillance of birth defects has been set up in Europe. On the other hand, the network of public health institutions on rare diseases (NEPHIRD) was established with the aim to identify the state of the art of the activities concerning rare diseases in Europe. These two networks connected focusing on the analysis on selected rare syndromes as target models of birth defects in order to create the concept of more effective organization of the public health services for affected individuals by integrating epidemiologic, clinical and scientific knowledge. Objectives: The analysis of epidemiological characteristic of selected rare syndromes in European population. The methods used and the data collected will serve as a starting point for further scientific research in the field of epidemiology, public health services and clinical practice concerning rare disorders. Methods: The analysis of the epidemiological characteristics of Fraser, Cornelia de Lange, Holt Oram, Fryns, Goldenhar, Meckel-Gurber, Ellis van Creveld, Beckwith-Wiedeman, and Treacher-Collins syndrome in Europe. Population: 34 EUROCAT registries of birth defects, which record births in 16 European countries. Study period: 1980-2004. Results: preliminary results of the ongoing study will be presented based on example of Cornelia de Lange syndrome ; the rare disorder extensively studied by NEPHIRD. Descriptive epidemiology data including population-based prevalence rates, type of birth (live births, still births, induced abortions), the impact of prenatal diagnosis, time of diagnosis, survival, clinical presentation, and possible teratogenic exposures. An overall evaluation of the role of medical geneticists in diagnosing syndrome cases in registries of birth defect will be addressed as well. Conclusions and Proposals: Epidemiology data on rare syndromes derived from literature studies are mostly based on biased hospital statistics and not on data obtained from the general population. More accurate and high quality registration can be achieved by a team of specially trained and motivated multidisciplinary professionals incorporated into the international network of birth registries. To assess the accuracy of notification of rare genetic disorders it is essential to determine how genetic services are integrated in the registries of birth defects and to what extent they participate in the process of diagnosis. The improvement of the methodology of registration of syndrome cases will facilitate in future the use of databases for research into the causes of specific patterns of malformations. International cooperation in data collection and exchange of expertise will allow us to address relevant issues of interest, such as prevention and service delivery for rare disorders and a European level.

EUROCAT; NEPHIRD; epidemiology; rare disease; rare syndrome; Cornelia de Lange syndrome

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