Osteoporosis and Bone Metabolism Unit, Department of Endocrinology, Singapore General Hospital, DUKE NUS Medical School, Singapore, Singapore.
ANDO Portugal, CHRC, University of Évora, European Reference Network On Rare Bone Diseases, Évora, Portugal.
Osteoporos Int. 2023 Aug;34(8):1301-1310. doi: 10.1007/s00198-023-06791-x. Epub 2023 Jun 9.
Rare bone diseases (RBDs) are a heterogenous group of disorders that are poorly understood and challenging to treat. This creates a plethora of unmet needs for people with RBDs as well as their families and care providers, including diagnostic delays, limited access to expert care, and a lack of specialized treatments. The RBD Summit, which took place across 2 days in November 2021, was a virtual meeting of 65 RBD experts from clinical, academic, and patient communities as well as the pharmaceutical industry. The first meeting of its kind, the RBD Summit aimed to facilitate dialog and information exchange between delegates to advance knowledge and awareness of RBDs and improve patient outcomes.
Key challenges were discussed, and actions for overcoming them were proposed, including how obstacles to diagnosis can be overcome by (a) improving awareness of RBDs, (b) the implementation of a person-centered care pathway, and (c) how to narrow the communication gap between patients and healthcare professionals.
Agreed actions were categorized as short term and long term, and priorities determined.
In this position paper, we provide an overview of key discussions from the RBD Summit, summarize the subsequent action plan, and discuss the next steps in this continued collaboration.
罕见骨骼疾病（RBD）是一组异质性疾病，其发病机制尚未完全阐明，治疗方法也颇具挑战性。这给 RBD 患者及其家属和医护人员带来了诸多未满足的需求，包括诊断延迟、获得专家护理的机会有限以及缺乏专门的治疗方法。2021 年 11 月，为期两天的 RBD 峰会以虚拟会议的形式召集了来自临床、学术和患者社区以及制药行业的 65 名 RBD 专家。作为同类会议中的首次会议，RBD 峰会旨在促进代表之间的对话和信息交流，以增进对 RBD 的认识和了解，并改善患者的治疗结局。
会上讨论了主要挑战，并提出了克服这些挑战的行动方案，包括如何通过（a）提高对 RBD 的认识、（b）实施以患者为中心的护理途径以及（c）如何缩小医患之间的沟通差距来克服诊断障碍。
商定的行动方案分为短期和长期，并确定了优先事项。
在这份立场文件中，我们概述了 RBD 峰会的主要讨论内容，总结了随后的行动计划，并讨论了在这一持续合作中的下一步行动。
