The Occurrence of 275 Rare Diseases and 47 Rare Disease Groups in Italy. Results from the National Registry of Rare Diseases

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.

Value of the Rare Disease Registry of the Italian Region Friuli Venezia Giulia

“…11 Nonetheless, as soon as they were implemented, they all started feeding into the National Registry, which combines information from each of the regional registries with a pre-agreed common minimum dataset (including patient's demographic data, name and group of disease, use of drugs, dates of first symptom occurrence, diagnosis, registration, and vital status). 12 Some regions started to implement RD registries as early as 2002, 13 although the whole system at the national level was completed more than 10 years later.…”

Red Flags for early referral of people with symptoms suggestive of narcolepsy: a report from a national multidisciplinary panel

“…Narcolepsy is still a disease burdened by an unacceptable diagnostic delay [ 18 , 26 ] and possibly by missed diagnoses in Italy [ 12 , 13 ].…”

“…At December 31, 2014, 610 patients were recorded in Italy by the National Registry for Rare Diseases [12], with an average national annual incidence in the 3-year period 2012–2014 of 0.97 per 1 million person-years [13] compared to an annual incidence of 1.37 per 100,000 person-years in Olmsted County, Minnesota (USA) [7]. …”

“…Narcolepsy has a prevalence between 20 and 50 per 100,000 [ 5 – 11 ] and is recognized as rare disease (RF 0150) by the Italian Ministry of Health [attachment 1 at DM N. 279/2001]. At December 31, 2014, 610 patients were recorded in Italy by the National Registry for Rare Diseases [ 12 ], with an average national annual incidence in the 3-year period 2012–2014 of 0.97 per 1 million person-years [ 13 ] compared to an annual incidence of 1.37 per 100,000 person-years in Olmsted County, Minnesota (USA) [ 7 ].…”

Multifactorial Rare Diseases: Can Uncertainty Analysis Bring Added Value to the Search for Risk Factors and Etiopathogenesis?

“…A similar effort for a systematic approach toward uncertainty analysis is not currently implemented in regard to other major areas in the RD field, namely, identification of risk factors, etiopathogenesis and diagnosis. Nevertheless, these critical areas are affected by major sources of uncertainties, such as the rarity of the condition and the difficult collection of cases [ 8 ].…”