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

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.

A Questionnaire Integrated with the Digital Medical Record Improved the Coverage of a Control Program for Congenital Chagas Disease in Tuscany, Italy.

The leading route of Chagas disease transmission in nonendemic countries is congenital. However, policies concerning screening, prevention, and management of congenital Chagas disease are rare in these settings. Since 2012, serological screening for Chagas disease should be provided for pregnant women at risk in Tuscany, Italy according to a Regional resolution. Due to difficulties in the implementation, in November 2019, a checklist aimed at identifying pregnant women at risk for Chagas disease was introduced in digital clinical records at Careggi University Hospital, Florence, Italy. In order to evaluate the effectiveness of the "Chagas checklist", data about the number of deliveries by women at risk and their screening coverage between 2012 and June 2022 were collected. Out of 1348 deliveries by women at risk, 626 (47%) Trypanosoma cruzi serology tests were performed during the study period. The annual screening coverage increased from an average of 40.3% between 2012 and 2019 to 75.7% between 2020 and June 2022, underlining the big impact of the checklist. Four Chagas disease serological tests out of 626 (0.6%) resulted positive, corresponding to 2 affected women. No cases of congenital transmission occurred. The study showed that a simple digital tool led to a tangible improvement in the coverage of the screening program; its application in a setting where digital charts are available will contribute to the control and elimination of congenital Chagas disease.

Screening for gestational diabetes in Tuscany, Italy. A population study.

AIMS: According to current Italian guidelines, only women at higher risk of gestational diabetes (GDM) are eligible for receiving a glucose tolerance test (OGTT) during pregnancy. This study evaluates the compliance to national guidelines, additionally proposing an algorithm able to identify women with GDM. METHODS: The study included 23,270 pregnant women aged >15yr, resident in Tuscany, a region in central Italy, delivering in year 2015, identified by certificates of care at delivery. Eligibility to screening was evaluated by fulfillment to regional guidelines recommending a 2-h-75g-OGTT only in presence of risk factors. Additionally, a validated algorithm is proposed to diagnose GDM from regional administrative databases. RESULTS: Glucose tolerance was tested in 79.2% of women. Eligibility criteria were fulfilled in 55.6% of OGTT performers and in 40.2% of those who didn't perform any OGTT. Performers' rate increased with age, body weight, higher education degree and in those followed by a well defined clinical setting. Housewives and students had a lower chance of receiving an OGTT. Algorithm identified GDM in 11% of women, ranging from 14% among eligible and 7% among non-eligible ones. CONCLUSION: Selective screening for GDM is not being currently applied in Tuscany. Despite the percentage of eligible women by national guidelines was 55%, the rate of those who performed the screening was about 80%, with a 40% of low risk women continuing to be screened. Moreover, GDM rate, calculated by algorithm, was relatively large (7%) among non-eligible women, suggesting the need of universal glucose screening to adequately capture all GDM cases.