Moultrie Rebecca R, Lewis Megan A, Paquin Ryan S, Lucas Ann, Jarecki Jill, Peay Holly L
RTI International, 3040 E. Cornwallis Road, P.O. Box 12194, Research Triangle Park, NC, 27709, USA.
Parent Project Muscular Dystrophy, Hackensack, NJ, USA.
J Genet Couns. 2018 Apr;27(2):416-425. doi: 10.1007/s10897-017-0190-8. Epub 2017 Dec 20.
Duchenne/Becker muscular dystrophy (DBMD) and spinal muscular atrophy (SMA) are rare neuromuscular disorders that present challenges to therapeutic and clinical trial decision making. We developed an interactive, evidence-based online tool designed to encourage thoughtful deliberation of the pros and cons of trial participation and to inform meaningful discussions with healthcare providers. Prior research demonstrates the importance of tool availability at the time each family is considering trial participation, which may be prior to the informed consent process. The tool is intended to be easily modified to other pediatric disease communities. Tool development was informed by prior qualitative research, literature reviews, and stakeholder input. Specific items were derived based on an online exploratory questionnaire of parents whose children participated in a trial for DBMD or SMA to understand motivations for participation. Parent participants in the exploratory survey reported strong impact of altruistic and individual benefit motivations and placed much greater emphasis on anticipated trial benefits than on harms when making participation decisions. We used this data to develop the evidence-based deliberation tool using a community-engaged approach. We initially targeted the tool for DBMD while using SMA survey data to evaluate ease of transition to that population. We conducted two iterative sets of activities to inform development and refinement of the tool: (1) community engagement of key stakeholders and (2) user experience testing. These activities suggest that the tool may increase deliberation and the weighing of benefits and harms. Ongoing evaluation will determine the acceptability and efficacy of this online intervention.
杜兴氏/贝克氏肌营养不良症（DBMD）和脊髓性肌萎缩症（SMA）是罕见的神经肌肉疾病，给治疗和临床试验决策带来了挑战。我们开发了一个交互式的、基于证据的在线工具，旨在鼓励对参与试验的利弊进行深入思考，并为与医疗服务提供者进行有意义的讨论提供信息。先前的研究表明，在每个家庭考虑参与试验时（可能在知情同意过程之前）工具的可用性很重要。该工具旨在易于修改以适用于其他儿科疾病群体。工具的开发参考了先前的定性研究、文献综述和利益相关者的意见。具体项目是基于对参与DBMD或SMA试验的儿童的家长进行的在线探索性问卷调查得出的，以了解参与的动机。探索性调查中的家长参与者报告称，利他和个人利益动机有很大影响，在做出参与决策时，他们更加强调预期的试验益处而非危害。我们利用这些数据采用社区参与的方法开发了基于证据的审议工具。我们最初将该工具针对DBMD，同时使用SMA调查数据来评估向该人群过渡的难易程度。我们进行了两组迭代活动，以指导工具的开发和完善：（1）关键利益相关者的社区参与和（2）用户体验测试。这些活动表明，该工具可能会增加思考以及对益处和危害的权衡。持续评估将确定这种在线干预措施的可接受性和有效性。
