Acaster Lloyd Consulting Ltd, London, UK.
F. Hoffmann-La Roche Ltd, Basel, Switzerland.
Pharmacoeconomics. 2022 Apr;40(Suppl 1):103-115. doi: 10.1007/s40273-021-01118-2. Epub 2021 Dec 13.
Spinal muscular atrophy (SMA) is a rare neuromuscular disease that affects motor neurons, resulting in progressive skeletal muscle weakness and atrophy.
The aim of this study was to examine treatment preferences of patients and caregivers of patients with Type 2 and non-ambulatory Type 3 SMA in the Netherlands, Belgium, Finland, Ireland and Portugal.
A discrete choice experiment (DCE) survey was developed to elicit the preferences of adult patients and caregivers regarding different treatment aspects of SMA. This survey built on the design of a similar study undertaken in the UK. The DCE described choice questions in terms of attributes and levels combined using a D-efficient design. The attributes described improvements or worsening in motor and breathing function. The mode of treatment administration (intrathecal injection, single intravenous infusion or regular oral therapy) was described. Treatment risks and side effects related to currently available treatments including risk of liver injury, fatigue, headache, nausea, diarrhoea and rash were described. Lastly, an attribute described whether a treatment had evidence of treatment effectiveness in different SMA types. Participants were recruited via patient advocacy associations to complete an online survey. A clustered conditional logit model was used to estimate treatment preferences.
Participants (n = 65) were 4.8 times and 8.1 times more likely to choose a treatment with stable or improved (vs worse) motor function, respectively. Similarly, participants were 4.3 times and 5.8 times more likely to choose stable or improved (vs worse) breathing function, respectively. Treatments with a risk of liver injury, fatigue, headache and nausea were 1.6 times less likely to be chosen than treatments with a risk of diarrhoea and rash. Treatments with demonstrated effectiveness in Type 1 SMA only were 2.3 times less likely to be chosen than those with demonstrated effectiveness in Types 1-3 SMA. Treatments administered via intrathecal injections were also 1.8 times less likely to be chosen than daily oral treatments.
Study results show the importance of improvement as well as stabilisation of motor and breathing function to patients and caregivers, and a preference for oral treatments, treatments with demonstrated effectiveness in Types 2-3 SMA, and avoidance of liver injury risk.
脊髓性肌萎缩症（SMA）是一种罕见的神经肌肉疾病，影响运动神经元，导致进行性骨骼肌无力和萎缩。
本研究旨在考察荷兰、比利时、芬兰、爱尔兰和葡萄牙 2 型和非活动性 3 型 SMA 患者及其照护者对治疗的偏好。
采用离散选择实验（DCE）调查来评估成年患者及其照护者对 SMA 不同治疗方面的偏好。该调查以英国类似研究的设计为基础。DCE 通过使用 D 有效设计组合的属性和水平来描述选择问题。该属性描述了运动和呼吸功能的改善或恶化。治疗管理方式（鞘内注射、单次静脉输注或常规口服治疗）也进行了描述。与现有治疗相关的治疗风险和副作用，包括肝损伤风险、疲劳、头痛、恶心、腹泻和皮疹，也进行了描述。最后，一个属性描述了治疗在不同 SMA 类型中是否有治疗效果的证据。参与者通过患者权益协会招募来完成在线调查。使用聚类条件逻辑模型来估计治疗偏好。
参与者（n=65）更倾向于选择运动功能稳定或改善（vs 恶化）的治疗方案，其可能性分别是选择运动功能恶化的治疗方案的 4.8 倍和 8.1 倍。同样，参与者更倾向于选择呼吸功能稳定或改善（vs 恶化）的治疗方案，其可能性分别是选择呼吸功能恶化的治疗方案的 4.3 倍和 5.8 倍。与腹泻和皮疹风险相关的治疗方案的选择可能性比与肝损伤、疲劳、头痛和恶心风险相关的治疗方案高 1.6 倍。仅在 1 型 SMA 中具有疗效的治疗方案比在 1-3 型 SMA 中均具有疗效的治疗方案低 2.3 倍。鞘内注射给药的治疗方案也比每日口服治疗方案低 1.8 倍。
研究结果表明，运动和呼吸功能的改善和稳定对患者及其照护者非常重要，他们更倾向于选择口服治疗方案、在 2-3 型 SMA 中具有疗效的治疗方案，以及避免肝损伤风险。
