Novartis Gene Therapies, Inc., Bannockburn, IL, United States of America.
Putnam Associates, Mayo, Ireland.
PLoS One. 2024 Oct 21;19(10):e0309666. doi: 10.1371/journal.pone.0309666. eCollection 2024.
Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder characterized by skeletal muscle weakness and atrophy. Patients with SMA types 1 and 2 develop severe disabilities conferring substantial patient and caregiver burden. Caregiver treatment characteristic preferences are useful for informing treatment choices and improving adherence. We aimed to identify drivers of SMA treatment preference from the perspective of caregivers of patients with SMA types 1 or 2 in the United States. We quantified the relative importance of different treatment characteristics and compared preferences for hypothetical treatment scenarios. Treatment attributes and attribute levels elicited were based on a literature search and interviews with caregivers and health care professionals. The most important treatment characteristics from the perspective of health care professionals and caregivers were identified and used in a survey to quantify relative importance for caregivers. Caregivers completed surveys regarding their preferences using swing weighting methodology. These results were used to estimate the relative value of four hypothetical SMA treatment scenarios exploring different modes of treatment administration. The swing weighting survey, completed by 20 caregivers, demonstrated that the attributes driving treatment preference were reduction in permanent ventilation needs and risk of severe adverse events, followed by treatment access (including cost coverage and availability), increased ability to sit without support, and less treatment administration burden. The hypothetical SMA treatment scenarios with the highest relative value offered an easier mode of administration, lowest risk of severe adverse events, less need of permanent ventilation, and highest ability of patients to feed and sit without support. Our findings suggest that caregivers prefer a treatment with reduced clinical burden and risk in which the cost is covered and treatment is available in the short term. These results can provide important contextual information for decision-makers and help promote patient-centered care for patients with SMA.
脊髓性肌萎缩症（SMA）是一种遗传性神经肌肉疾病，其特征是骨骼肌无力和萎缩。SMA 类型 1 和 2 的患者会出现严重的残疾，给患者和照顾者带来巨大的负担。了解照顾者对治疗的特征偏好有助于为治疗选择提供信息，并提高治疗的依从性。本研究旨在从美国 SMA 类型 1 或 2 患者照顾者的角度确定 SMA 治疗偏好的驱动因素。我们从照顾者的角度量化了不同治疗特征的相对重要性，并比较了对假设治疗情况的偏好。治疗属性及其属性水平是基于文献检索和对照顾者和医疗保健专业人员的访谈得出的。从医疗保健专业人员和照顾者的角度确定了最重要的治疗特征，并在一项调查中使用这些特征来量化照顾者的相对重要性。照顾者使用摆动加权法完成了关于他们偏好的调查。这些结果用于估计四个不同治疗管理模式的 SMA 治疗假设情景的相对价值。20 名照顾者完成了摆动加权调查，结果表明，驱动治疗偏好的属性是减少永久性通气需求和严重不良事件风险，其次是治疗途径（包括成本覆盖和可用性）、增加无需支撑即可坐立的能力，以及减少治疗管理负担。具有最高相对价值的假设 SMA 治疗方案提供了更简单的管理方式、最低的严重不良事件风险、更少的永久性通气需求以及患者无需支撑即可进食和坐立的最高能力。我们的研究结果表明，照顾者更喜欢具有较低临床负担和风险的治疗方法，这种治疗方法的费用得到覆盖，并且可以在短期内获得。这些结果可以为决策者提供重要的背景信息，并有助于促进 SMA 患者的以患者为中心的护理。
