Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
J Neurol. 2023 Aug;270(8):3788-3798. doi: 10.1007/s00415-023-11704-3. Epub 2023 Apr 19.
There currently is no disease-modifying therapy for spinocerebellar ataxia type 1 (SCA1). Genetic interventions, such as RNA-based therapies, are being developed but those currently available are very expensive. Early evaluation of costs and benefits is, therefore, crucial. By developing a health economic model, we aimed to provide first insights into the potential cost-effectiveness of RNA-based therapies for SCA1 in the Netherlands.
We simulated disease progression of individuals with SCA1 using a patient-level state-transition model. Five hypothetical treatment strategies with different start and endpoints and level of effectiveness (5-50% reduction in disease progression) were evaluated. Consequences of each strategy were measured in terms of quality-adjusted life years (QALYs), survival, healthcare costs, and maximum costs to be cost effective.
Most QALYs (6.68) are gained when therapy starts during the pre-ataxic stage and continues during the entire disease course. Incremental costs are lowest (- €14,048) if therapy is stopped when the severe ataxia stage is reached. The maximum costs per year to be cost-effective are €19,630 in the "stop after moderate ataxia stage" strategy at 50% effectiveness.
Our model indicates that the maximum price for a hypothetical therapy to be cost-effective is considerably lower than currently available RNA-based therapies. Most value for money can be gained by slowing progression in the early and moderate stages of SCA1 and by stopping therapy upon entering the severe ataxia stage. To allow for such a strategy, it is crucial to identify individuals in early stages of disease, preferably just before symptom onset.
目前尚无治疗脊髓小脑共济失调 1 型（SCA1）的疾病修正疗法。正在开发基于 RNA 的遗传干预措施，但目前这些疗法非常昂贵。因此，早期评估成本和效益至关重要。通过开发健康经济模型，我们旨在为 SCA1 的基于 RNA 的疗法在荷兰的潜在成本效益提供初步见解。
我们使用患者水平的状态转移模型模拟 SCA1 个体的疾病进展。评估了五种具有不同起点和终点以及有效性（疾病进展减少 5%-50%）的假设治疗策略。每种策略的后果均以质量调整生命年（QALY）、生存、医疗保健成本和达到成本效益的最大成本来衡量。
当治疗在共济失调前期开始并持续整个疾病过程时，获得的 QALY 最多（6.68）。如果在达到严重共济失调阶段时停止治疗，增量成本最低（-€14,048）。在 50%有效性的“停止中度共济失调阶段后”策略中，每年达到成本效益的最大成本为€19,630。
我们的模型表明，假设治疗达到成本效益的最高价格远低于目前可用的基于 RNA 的疗法。通过在 SCA1 的早期和中期阶段减缓进展并在进入严重共济失调阶段时停止治疗，可以获得最大的性价比。为了实现这样的策略，至关重要的是在疾病的早期阶段，最好是在症状出现之前识别个体。
