PLAIN ENGLISH SUMMARY Patients with rare diseases often help to develop new treatments for their conditions. But once developed, those treatments are sometimes priced too high for many patients to access them. We became aware that this is a problem in the course of a social science research project that examines the place of rare diseases in health policy. We therefore organized a two-day workshop to try and understand why this problem occurs and what might be done about it. The people who participated in our workshop were: representatives of rare disease patient organizations, experts in matters of drug regulation and assessment of new health technologies, consultants involved with companies producing treatments for rare diseases, and social scientists researching related issues. The main conclusions to emerge from the discussions were as follows: Problems of access to treatments for rare diseases are not just due to high prices; procedures for regulating, assessing and delivering new treatments also need to be better organized. Patients and patient organizations have much to contribute to this process. However, their resources are often very limited. Consequently, more needs to be done to help them use those resources as effectively as possible. In particular, regulators and healthcare providers need to ensure that their procedures are clear and efficiently managed, so as not to waste patient organizations' time and money. Clearer guidance is needed on what patient organizations can do to provide evidence of the effectiveness of new drugs. Insights gained in tackling rare diseases might also be applicable to common disorders. Finally, the consequences of Brexit for UK policies on rare diseases urgently need to be assessed. ABSTRACT Since the enactment of orphan drug legislation in the USA, Europe and several other countries, an increasing number of treatments for rare diseases have been developed and many of them been approved for marketing. However, such treatments tend to be priced very high, and access to effective treatments remains a major challenge for patients with rare diseases - despite active involvement of patients and their support organizations in various stages of basic and applied research and commercial development. In order to allow patients to benefit from treatments proved effective for their diseases, we need to better understand why this challenge persists, and what steps might be taken to address it. To that end, we organized a policy-engagement workshop, bringing together individuals and organizations with direct experience of trying to secure access to a treatment for a rare disease along with individuals with relevant expertise in regulatory and commissioning processes for new medicines. With additional input from social scientists who offered different perspectives on the value of patient involvement, the workshop aimed to initiate a dialogue among the participants about how to address the challenge in a sustainable manner. Discussions at the workshop stressed that active involvement of patients is as valuable in the regulatory and commissioning processes as in the research and development of new medicines. However, it also highlighted certain risks and costs associated with such involvement. These include the costs of adjusting to abrupt changes in regulatory and commissioning processes, and the risk of being perceived as too close to commercial interests. To optimize use of scarce resources and ensure continuing active involvement, such risks and costs need to be better managed. Participants also noted that, owing to advances in genomic technologies, common diseases are also becoming divided into rare sub-categories, which are equally eligible for orphan drug designation. Consequently, involvement of wider patient communities beyond rare disease communities will be critical for continuing discussions about patients' involvement in regulatory and commissioning processes, and to consider how patients and their support organizations can best work with other stakeholders - including companies, regulators and policymakers - to ensure access to effective medicines.

中文翻译：

---

患者组织的参与和确保获得罕见疾病治疗的挑战：政策参与研讨会的报告。


简明英语摘要患有罕见疾病的患者通常会帮助开发针对其病情的新疗法。但一旦开发出来，这些治疗方法有时价格过高，许多患者无法获得它们。我们在一个社会科学研究项目过程中意识到这是一个问题，该项目检查罕见疾病在卫生政策中的地位。因此，我们组织了一次为期两天的研讨会，试图了解为什么会出现此问题以及可以采取哪些措施。参加我们研讨会的人员包括：罕见病患者组织的代表、药品监管和新健康技术评估方面的专家、参与生产罕见病治疗方法的公司的顾问以及研究相关问题的社会科学家。讨论得出的主要结论如下： 获得罕见疾病治疗的问题不仅是由于价格高，而且是由于价格高。还需要更好地组织管理、评估和提供新疗法的程序。患者和患者组织可以为这一过程做出很多贡献。然而，他们的资源往往非常有限。因此，需要采取更多措施来帮助他们尽可能有效地利用这些资源。特别是，监管机构和医疗保健提供者需要确保其程序清晰且有效管理，以免浪费患者组织的时间和金钱。需要更明确的指导来指导患者组织可以采取哪些措施来提供新药有效性的证据。在解决罕见疾病方面获得的见解也可能适用于常见疾病。最后，迫切需要评估英国脱欧对英国罕见疾病政策的影响。 摘要 自美国、欧洲和其他几个国家颁布孤儿药立法以来，越来越多的罕见疾病治疗药物被开发出来，其中许多药物已获批上市。然而，此类治疗的价格往往非常高，尽管患者及其支持组织积极参与基础和应用研究以及商业开发的各个阶段，但获得有效的治疗仍然是罕见病患者面临的主要挑战。为了让患者受益于被证明对其疾病有效的治疗，我们需要更好地理解为什么这一挑战持续存在，以及可以采取哪些步骤来解决它。为此，我们组织了一次政策参与研讨会，将具有尝试确保获得罕见疾病治疗的直接经验的个人和组织，以及在新药监管和调试流程方面具有相关专业知识的个人聚集在一起。社会科学家对患者参与的价值提出了不同的观点，研讨会旨在在参与者之间发起对话，讨论如何以可持续的方式应对这一挑战。研讨会上的讨论强调，患者的积极参与在监管和调试过程中与新药的研究和开发一样有价值。然而，它也强调了与此类参与相关的某些风险和成本。其中包括适应监管和调试流程突然变化的成本，以及被认为过于接近商业利益的风险。 为了优化稀缺资源的利用并确保持续积极参与，需要更好地管理此类风险和成本。与会者还指出，由于基因组技术的进步，常见疾病也被分为罕见的子类别，这些子类别同样有资格获得孤儿药指定。因此，罕见病社区之外更广泛的患者社区的参与对于继续讨论患者参与监管和委托流程以及考虑患者及其支持组织如何与其他利益相关者（包括公司、监管机构和政策制定者）​​最好地合作至关重要。确保获得有效药物。