Fondazione Telethon, Via Poerio 14, 20129, Milan, Italy.
MRC Centre for Neuromuscular Diseases, Institute of Neurology, Queen Square, London, UK.
Orphanet J Rare Dis. 2019 Jun 7;14(1):126. doi: 10.1186/s13023-019-1103-8.
Patient and public involvement for co-creation is increasingly recognized as a valuable strategy to develop healthcare research targeting patients' real needs. However, its practical implementation is not as advanced and unanimously accepted as it could be, due to cultural differences and complexities of managing healthcare programs and clinical studies, especially in the rare disease field.
The European Neuromuscular Centre, a European foundation of patient organizations, involved its key stakeholders in a special workshop to investigate the position of the neuromuscular patient community with respect to healthcare and medical research to identify and address gaps and bottlenecks. The workshop took place in Milan (Italy) on January 19-20, 2018, involving 45 participants who were mainly representatives of the patient community, but also included experts from clinical centers, industry and regulatory bodies. In order to provide practical examples and constructive suggestions, specific topics were identified upfront. The first set of issues concerned the quality of life at specific phases of a patient's life, such as at the time of diagnosis or during pediatric to adult transition, and patient involvement in medical research on activities in daily living including patient reported outcome measures. The second set of issues concerned the involvement of patients in the management of clinical research tools, such as registries and biobanks, and their participation in study design or marketing authorization processes. Introductory presentations were followed by parallel working group sessions, to gain constructive contributions from all participants. The concept of shared decision making was used to ensure, in discussions, a partnership-based identification of the wishes and needs of all stakeholders involved, and the "ladder of participation" tool served as a model to evaluate the actual and the desired level of patients' involvement in all topics addressed. A general consensus on the outcome of the meeting was collected during the final plenary session. This paper reports the outcome of the workshop and the specific suggestions derived from the analysis of the first set of topics, related to quality of life. The outcomes of the second set of topics are reported elsewhere and are only briefly summarized herein for the sake of completeness.
The neuromuscular community proved to be very active and engaged at different levels in the healthcare initiatives of interest. The workshop participants critically discussed several topics, providing practical examples where different stakeholders could play a role in making a change and bridging gaps. Overall, they indicated the need for education of all stakeholders for better communication, where everyone should become an ambassador to promote real change. Support should also come from institutions and healthcare bodies both at structural and economic level.
患者和公众参与共同创作越来越被认为是一种有价值的策略，可以针对患者的实际需求开发医疗保健研究。然而，由于文化差异和管理医疗保健计划和临床研究的复杂性，尤其是在罕见病领域，其实际实施并没有像预期的那样先进和普遍被接受。
欧洲神经肌肉中心是一家患者组织的欧洲基金会，它让其主要利益相关者参与了一个特别研讨会，以调查神经肌肉患者群体在医疗保健和医学研究方面的立场，以确定和解决差距和瓶颈问题。该研讨会于 2018 年 1 月 19 日至 20 日在意大利米兰举行，共有 45 名参与者参加，他们主要是患者群体的代表，但也包括来自临床中心、工业界和监管机构的专家。为了提供实际的例子和建设性的建议，提前确定了具体的主题。第一组问题涉及患者生命特定阶段的生活质量，例如在诊断时或儿科到成年过渡期间，以及患者在日常生活活动中的医学研究中的参与情况，包括患者报告的结果测量。第二组问题涉及患者参与临床研究工具的管理，例如登记处和生物库，以及他们参与研究设计或营销授权过程。在介绍性演讲之后，平行工作组会议进行了讨论，以从所有参与者那里获得建设性的贡献。共享决策的概念被用来确保在讨论中，基于所有相关利益相关者的愿望和需求，建立一种基于伙伴关系的识别，并使用“参与阶梯”工具作为评估所有主题中患者实际和期望参与程度的模型。在最后一次全体会议上收集了对会议结果的普遍共识。本文报告了研讨会的结果，并从与生活质量相关的第一组主题的分析中得出了具体建议。第二组主题的结果在其他地方报告，为了完整性，此处仅简要总结。
神经肌肉社区在不同层面上对利益相关的医疗保健举措表现出非常积极和参与。研讨会参与者对几个主题进行了批判性讨论，提供了不同利益相关者在改变和弥合差距方面可以发挥作用的实际例子。总体而言，他们表示需要对所有利益相关者进行教育，以进行更好的沟通，每个人都应该成为促进真正变革的大使。机构和医疗保健机构应在结构和经济层面提供支持。
