Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands.
Department of Neurology, Maastricht University Medical Centre+, Maastricht, the Netherlands.
Orphanet J Rare Dis. 2024 Oct 28;19(1):398. doi: 10.1186/s13023-024-03408-2.
Although genetic interventions are on the horizon for some polyglutamine expansion diseases, such as subtypes of spinocerebellar ataxia (SCA) and Huntington's disease (HD), the patients' preferences regarding these new therapies are unclear. This study aims to get insight into what extent different characteristics of genetic interventions affect the preferences of patients with SCA and HD with regard to these interventions.
Manifest and premanifest patients with SCA or HD were recruited online by platforms of patient associations. The respondents conducted a questionnaire that included a discrete choice experiment (DCE). The experimental design included 24 choice sets, but these were divided into three blocks of eight to reduce the number of tasks per respondent. Each choice set included two alternative treatments and consisted of four attributes (mode and frequency of administration, chance of a beneficial effect, risks, and follow-up), each with three or four different levels. The forced choice-elicitation format was used. Data were analyzed by using a multinominal logistic regression model.
Responses of 216 participants were collected. The mode and frequency of administration of a genetic intervention, as well as the chance of a beneficial effect both influence the choice for a genetic intervention. Respondents less prefer repeated lumbar punctures compared to a single operation. As expected, a higher beneficial effect of treatment was preferred. Risks and follow-up did not influence the choice for a genetic intervention.
The results can be used for the design and implementation of future genetic interventional trials as well as of patient-centered care pathways for rare movement disorders such as SCA and HD.
尽管基因干预技术即将应用于某些多聚谷氨酰胺扩展疾病，如脊髓小脑共济失调（SCA）和亨廷顿病（HD）的某些亚型，但患者对这些新疗法的偏好尚不清楚。本研究旨在深入了解基因干预的不同特征在多大程度上影响 SCA 和 HD 患者对这些干预措施的偏好。
通过患者协会的平台在线招募 SCA 或 HD 的显性和前显性患者。受访者进行了一项问卷调查，其中包括离散选择实验（DCE）。实验设计包括 24 个选择集，但为了减少每个受访者的任务数量，将这些选择集分为三个 8 个的块。每个选择集包括两种替代治疗方法，由四个属性（管理方式和频率、有益效果的机会、风险和随访）组成，每个属性有三个或四个不同的水平。采用强制选择启发式格式。使用多项逻辑回归模型分析数据。
共收集了 216 名参与者的回复。基因干预的管理方式和频率以及治疗有益效果的机会都影响对基因干预的选择。与单次手术相比，受访者不太喜欢重复腰椎穿刺。预期的是，更高的治疗有益效果更受欢迎。风险和随访并不影响对基因干预的选择。
这些结果可用于设计和实施未来的基因干预试验，以及设计用于 SCA 和 HD 等罕见运动障碍的以患者为中心的护理途径。
