Abstract
Knowledge of rare diseases (RD) is often scattered among many data collections and registries of patient cohorts. Therefore, assessing the burden of RD in the general population, developing appropriate policies and planning services for the care of RD patients is difficult. This study aimed at providing a systematic picture of RD occurrence in a population as big as 60 million. Data of diagnoses were certified and collected by a network of 247 specialized centres covering the whole Italian territory. Data received (about 200,000 records) were validated according to formal criteria and, where necessary, corrected by the data sources. Data of age at onset and sex distribution are given for about 400 diseases. Incidence and/or birth prevalence are given for 275 diseases and 47 disease groups, which, altogether, comprise a substantial part of the known rare diseases. Data quality, internal consistency, and external validity of the database have also been assessed and ways to limit the impact of some discrepancies were devised. The information provided by RNMR, cutting across such a wide range of RD, represents a unique coherent basis allowing the prioritization of relevant public health measures and research activities.
Highlights
Rare diseases (RD) are complex diseases with a very low prevalence
We aim to provide a detailed and systematic picture of the epidemiology of RD
Since it was not possible to distinguish among these different possibilities, no selection was applied at this time. Most of these records referred to group-coded pathologies and the differing diagnoses pertained to the same code
Summary
Rare diseases (RD) are complex diseases with a very low prevalence (in the EU, a prevalence of less than 5/10,000 in the general population is considered). Many studies are based on hospital data in regions with a higher prevalence [3] This situation results in the difficulty of assessing the burden of RD in the general population and developing appropriate priority policies for the care of RD patients and the planning of health and social care services. To overcome these difficulties and support the development of knowledge on RD, the USA NIH-NCATS launched the Global RD Patient Registry and Data
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