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. 2023 Oct 13;18(1):324.
doi: 10.1186/s13023-023-02947-4.

The Tuscany Regional Network for rare diseases: from European Reference Networks' experience to registry based organisation and management model for rare diseases

Federica Pieroni  1 , Sonia Marrucci  1 , Linda Di Pietro  2 , Cecilia Berni  3   4 , Cristina Scaletti  5   6   7
Affiliations

The Tuscany Regional Network for rare diseases: from European Reference Networks' experience to registry based organisation and management model for rare diseases

Federica Pieroni et al. Orphanet J Rare Dis. .

Abstract

Background: In the European Union, a disease is defined as rare when it affects fewer than 1 in 2000 people. Currently, there are up to 8000 described rare diseases (RDs), collectively affecting 30 million people in the European Union. In 2004 Tuscany region (Italy) established a Regional Network of hospital units to ensure highly specialised medical care in the field of RDs. Shortly after the Rare Diseases Registry of Tuscany (Registro Toscano Malattie Rare-RTMR) was implemented. Here we describe the analysis performed on RTMR data which has recently allowed to remap the Network based on European Reference Networks' model.

Results: Data analysis was performed on 60,367 cases registered in RTMR, regarding 628 RDs. Two-hundred and fifteen active presidia have been evaluated. The assignment of each RD to the suitable European Reference Network has been made considering not only the number of registered cases, certifications and treatment plans for each Regional Presidium but also the competence in multidisciplinary management of the patient, from diagnosis to treatment. This evaluation has led to the establishment of twenty-one Regional Coordination Centres. They aggregate and coordinate Hospital Units which diagnose and treat one or a group of related RDs. In case of wide groups of RDs, Clinical Subnets are instituted. Updated statistics regarding RDs in Tuscany, list of RDs and Coordination Centres, as well as information about single Presidia are published and freely available on a designated webpage. Regional Decrees are regularly updated according to the network evolution.

Conclusions: The Rare Diseases Regional Network in Tuscany, based on the ERN model, has played a pivotal role in enhancing RD management and research. The remapping has led to a dynamic system, following not only scientific research but also the development of Presidia's expertise. By pooling resources and expertise, the network has improved the availability and accessibility of specialized care for patients with RDs. Collaborative efforts, data sharing, and standardized registries are crucial for advancing RD research, improving diagnosis and treatment, and ultimately enhancing the quality of life for individuals living with RDs.

Keywords: European Reference Networks; Rare diseases; Regional network; Registry.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
RDs according to disease group
Fig. 2
Fig. 2
List of regional rare diseases coordination centres
Fig. 3
Fig. 3
a Network model, including subnets. b Network model, CCMR and Ups only. ERN = European Reference Network; CCMR = rate disease coordination centre (Centro di Coordinamento Malattia Rara in Italian); SRC = clinical subnet (Sottorete clinica in Italian); UP = Hosptial unit part of a CCMR or of a SRC (Unità di Percorso in Italian)
Fig. 4
Fig. 4
Example of graphic representation of total Rare Disease’e cases registered by Presidia
Fig. 5
Fig. 5
Example of graphic representation of cases registered by Presidia by year
See this image and copyright information in PMC

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