Cannizzo Sara, Lorenzoni Valentina, Palla Ilaria, Pirri Salvatore, Trieste Leopoldo, Triulzi Isotta, Turchetti Giuseppe
Institute of Management, Scuola Superiore Sant'Anna, Pisa, Italy.
RMD Open. 2018 Nov 12;4(Suppl 1):e000794. doi: 10.1136/rmdopen-2018-000794. eCollection 2018.
Rare diseases imply clinical and economic burden as well as a significant challenge for health systems. One relevant objective of the activities planned within the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases (ERN ReCONNET) is to address the economic dimensions of rare diseases to identify, develop and suggest strategies to improve research and patients' access to orphan drugs (ODs) and highly specialised health technologies. This paper presents a preliminary review of the existing policies on rare diseases in the countries of the Network members. It also introduces and discusses the theme of of rare diseases and of existing or new treatments for rare diseases. To obtain a preliminary overview aiming at defining the state of the art of rare diseases policies and initiatives in ERN ReCONNET countries, we collected and analysed the rare diseases national plans of all the eight countries of the ERN ReCONNET participants. The preliminary overview that has been performed showed that in all the ERN ReCONNET countries are in place national plans for rare diseases; however, heterogeneity exists in the reimbursement of ODs, direct provision by the healthcare system, involvement of patients' associations in decision making and implementation of clinical practice guidelines.
罕见病意味着临床和经济负担，同时也给卫生系统带来重大挑战。欧洲罕见和复杂结缔组织及肌肉骨骼疾病参考网络（ERN ReCONNET）所规划活动的一个相关目标是应对罕见病的经济层面问题，以确定、制定并提出改善研究以及患者获取孤儿药（ODs）和高度专业化卫生技术的策略。本文对网络成员国家现有的罕见病政策进行了初步综述。它还介绍并讨论了罕见病主题以及现有或新型罕见病治疗方法。为了获得一个初步概述，旨在界定ERN ReCONNET国家罕见病政策和举措的现状，我们收集并分析了ERN ReCONNET所有八个参与国的罕见病国家计划。已进行的初步概述表明，在所有ERN ReCONNET国家都有罕见病国家计划；然而，在孤儿药报销、医疗系统直接提供、患者协会参与决策以及临床实践指南的实施方面存在异质性。
