PDF(Pubmed)
Abstract：
People with rare lysosomal storage diseases face challenges in their care that arise from disease complexity and heterogeneity, compounded by many healthcare professionals being unfamiliar with these diseases. These challenges can result in long diagnostic journeys and inadequate care. Over 30 years ago, the Rare Disease Registries for Gaucher, Fabry, Mucopolysaccharidosis type I and Pompe diseases were established to address knowledge gaps in disease natural history, clinical manifestations of disease and treatment outcomes. Evidence generated from the real-world data collected in these registries supports multiple stakeholders, including patients, healthcare providers, drug developers, researchers and regulators. To maximise the impact of real-world evidence from these registries, engagement and collaboration with the patient communities is essential. To this end, the Rare Disease Registries Patient Council was established in 2019 as a partnership between the Rare Disease Registries and global and local patient advocacy groups to share perspectives on how registry data are used and disseminated. The Patient Council has resulted in a number of patient initiatives including patient representation at Rare Disease Registries advisory boards; development of plain language summaries of registry publications to increase availability of real-world evidence to patient communities; and implementation of digital innovations such as electronic patient-reported outcomes, and patient-facing registry reports and electronic consent (in development), all to enhance patient engagement. The Patient Council is building on the foundations of industry-patient advocacy group collaboration to fully integrate patient communities in decision-making and co-create solutions for the rare disease community.
摘要：
患有罕见溶酶体贮积症的人在他们的护理中面临着由疾病复杂性和异质性引起的挑战。许多医疗保健专业人员不熟悉这些疾病。这些挑战可能导致漫长的诊断旅程和不足的护理。30多年前,Gaucher的罕见疾病登记处,法布里,建立了粘多糖贮积症I型和庞贝病，以解决疾病自然史中的知识空白，疾病的临床表现和治疗结果。从这些注册中心收集的真实世界数据中产生的证据支持多个利益相关者，包括患者,医疗保健提供者，药物开发商，研究人员和监管者。为了最大限度地发挥来自这些登记册的现实世界证据的影响，与患者社区的参与和合作至关重要。为此,罕见疾病登记处患者理事会成立于2019年,是罕见疾病登记处与全球和当地患者倡导团体的合作伙伴关系,旨在就如何使用和传播登记处数据分享观点.患者委员会已提出了许多患者倡议，包括在罕见疾病登记处咨询委员会中的患者代表；制定登记处出版物的通俗易懂的语言摘要，以增加对患者社区的真实证据的可用性；以及实施数字创新，例如电子患者报告结果，以及面向患者的注册报告和电子同意书（正在开发中），所有这些都是为了增强患者的参与度。患者委员会正在行业-患者倡导小组合作的基础上，将患者社区充分纳入决策，并共同为罕见疾病社区创造解决方案。
