Fondazione Toscana Gabriele Monasterio, Pisa, Italy.
Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
Orphanet J Rare Dis. 2023 Oct 13;18(1):324. doi: 10.1186/s13023-023-02947-4.
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.
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.
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.
在欧盟，当一种疾病影响每 2000 人中少于 1 人时，就被定义为罕见病。目前，有多达 8000 种已描述的罕见病（RDs），共同影响着欧盟的 3000 万人。2004 年，托斯卡纳地区（意大利）建立了一个医院单位区域网络，以确保在罕见病领域提供高度专业化的医疗护理。此后不久，托斯卡纳罕见病登记处（Registro Toscano Malattie Rare-RTMR）也随之建立。在这里，我们描述了最近基于欧洲参考网络模型对 RTMR 数据进行的分析。
对 RTMR 中登记的 60367 例、628 种 RD 病例进行了数据分析。评估了 215 个活跃的presidia。考虑到每个区域presidium 的登记病例数、认证和治疗计划，以及从诊断到治疗的患者多学科管理能力，为每个 RD 分配到合适的欧洲参考网络。这种评估导致了 21 个区域协调中心的建立。它们聚合和协调诊断和治疗一种或一组相关 RD 的医院单位。在广泛的 RD 组的情况下，设立了临床子网。关于托斯卡纳 RD 的最新统计数据、RD 列表和协调中心，以及关于单个 presidia 的信息，都在指定的网页上发布并免费提供。区域法令根据网络的发展定期更新。
托斯卡纳罕见病区域网络基于 ERN 模型，在加强 RD 管理和研究方面发挥了关键作用。重新映射不仅遵循科学研究，还遵循 presidia 专业知识的发展，导致了一个动态系统。通过汇集资源和专业知识，该网络提高了 RD 患者获得专门护理的可及性和可及性。协作努力、数据共享和标准化登记对于推进 RD 研究、改善诊断和治疗、最终提高 RD 患者的生活质量至关重要。
