Health Technology & Policy Unit, School of Public Health, University of Alberta, Edmonton, AB, Canada.
School of Public Health, University of Adelaide, Adelaide, Australia.
Orphanet J Rare Dis. 2017 Dec 22;12(1):188. doi: 10.1186/s13023-017-0738-6.
Patients and their families have become more active in healthcare systems and research. The value of patient involvement is particularly relevant in the area of rare diseases, where patients face delayed diagnoses and limited access to effective therapies due to the high level of uncertainty in market approval and reimbursement decisions. It has been suggested that patient involvement may help to reduce some of these uncertainties. This review explored existing and proposed roles for patients, families, and patient organizations at each stage of the lifecycle of therapies for rare diseases (i.e., orphan drug lifecycle).
A scoping review was conducted using methods outlined by Arksey and O'Malley. To validate the findings from the literature and identify any additional opportunities that were missed, a consultative webinar was conducted with members of the Patient and Caregiver Liaison Group of a Canadian research network.
Existing and proposed opportunities for involving patients, families, and patient organizations were reported throughout the orphan drug lifecycle and fell into 12 themes: research outside of clinical trials; clinical trials; patient reported outcomes measures; patient registries and biorepositories; education; advocacy and awareness; conferences and workshops; patient care and support; patient organization development; regulatory decision-making; and reimbursement decision-making. Existing opportunities were not described in sufficient detail to allow for the level of involvement to be assessed. Additionally, no information on the impact of involvement within specific opportunities was found. Based on feedback from patients and families, documentation of existing opportunities within Canada is poor.
Opportunities for patient, family, and patient organization involvement exist throughout the orphan drug lifecycle. However, based on the information found, it is not possible to determine which opportunities would be most effective at each stage.
患者及其家属在医疗体系和研究中变得更加活跃。患者参与的价值在罕见病领域尤为重要，由于市场批准和报销决策中的高度不确定性，患者面临诊断延迟和有效治疗方法有限的问题。有人认为，患者参与可能有助于减少其中的一些不确定性。本综述探讨了患者、家庭和患者组织在罕见病治疗生命周期（即孤儿药生命周期）的每个阶段的现有和拟议角色。
使用 Arksey 和 O'Malley 概述的方法进行了范围综述。为了验证文献中的发现并确定是否遗漏了任何其他机会，与加拿大研究网络的患者和护理联络小组的成员进行了咨询网络研讨会。
在孤儿药生命周期的各个阶段都报告了患者、家庭和患者组织参与的现有和拟议机会，并分为 12 个主题：临床试验之外的研究；临床试验；患者报告的结果测量；患者登记处和生物库；教育；宣传和意识；会议和研讨会；患者护理和支持；患者组织发展；监管决策；和报销决策。现有机会没有详细描述，无法评估参与程度。此外，没有发现任何关于特定机会内参与影响的信息。根据患者和家属的反馈，加拿大境内现有机会的记录很差。
在孤儿药生命周期的各个阶段都存在患者、家庭和患者组织参与的机会。然而，根据发现的信息，无法确定在每个阶段哪些机会最有效。
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