Preferences for genetic interventions for SCA and Huntington’s disease: results of a discrete choice experiment among patients.

Abstract

Abstract Background 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 what extent different characteristics of genetic interventions affect the preferences of patients with SCA and HD with regard to these interventions.Methods 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.Results 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. Completing the DCE appeared difficult for some respondents, in particular for patients in a more severe disease stage of HD.Conclusions The results can be used for the design and implementation of future genetic interventional trials and care pathways for patients with rare movement disorders such as SCA and HD.