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National Registry of Rare Diseases

The National Registry of Rare Diseases was set up at the the Istituto Superiore di Sanità (ISS) in compliance with Art. 3 M.D. 279/2001.

The Registry has the aim of obtaining epidemiological information ( the number of cases of a given disease and the relative distribution on a national scale) useful in understanding the dimensions of the problem. The Registry also has the goal of defining the prevalence/incidence of rare diseases, identifying possible risk factors, supporting clinical research and fostering collaboration among healthcare providers toward the indication of diagnostic criteria.

" expand the window of observation of rare diseases :
the single case or partial aggregation of low-frequency events generally obtains less scientific attention than that obtained by a national aggregation on a large population (such as the Italian population) which is also accompanied by a standardized methodology.

" increase awareness of the natural history of rare diseases:
a national registry provides the opportunity for the development of combined studies between epidemiology and biomedicine in order to highlight the aetiological determinants of rare diseases (RD) and the associated risk factors;

" improve awareness of diagnosis, treatment and assistance for rare diseases:
a national aggregation of experience, with the necessary international discussion and exchange of views, permits the expression of a critical mass of research sufficient to overcome many of the obstacles that contrast with the development of diagnostic approaches, therapies and ways of providing healthcare that are independent of market interests;

" build and reinforce a network of collaboration:
the activities of the registry permit work based on the largest possible number of cases on the basis of the national population and can be an important source of support for many interdisciplinary initiatives;

" disseminate information:
data of the registry are available for consultation on the ISS web site dedicated to rare diseases; the availability of public data collected on a national level will be important for the reinforcement of interaction among the different players in the field of RD. These include institutions, the scientific community, social-healthcare providers, patient and family associations, the world of volunteerism, etc...

The National Registry of Rare Diseases aims at realizing the following objectives:

" estimate the incidence/prevalence of rare diseases within the nation;
" identify the diagnostic-therapeutic course of events for patients and the time laps between the onset of symptoms and the diagnosis;
" promote exchange of ideas between healthcare providers for the definition of diagnostic criteria.

Published 05-02-2008 in Registries , last update 27-06-2008


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