■对于以扩展的胞嘧啶-腺嘌呤-鸟嘌呤(CAG)重复为特征的各种遗传性疾病,如脊髓小脑共济失调(SCA)亚型和亨廷顿病(HD),遗传干预目前正在不同的临床试验阶段进行测试.患者对此类干预措施的看法应包括在这些新治疗方法的进一步开发和实施中。
■深入了解SCA和HD患者对遗传干预的想法和观点。
■在这项定性研究中,参与者采用半结构化访谈技术进行访谈.讨论的主题是可能的风险和收益,和逻辑因素,如时机,位置和专业知识。使用通用主题分析对数据进行了分析。回应被编码为上级主题。
■采访了10名参与者(5名SCA和5名HD)。总的来说,参与者似乎愿意接受基因干预.重要的动机是缺乏替代的疾病修饰治疗方案,减缓疾病进展的希望,和保持当前的生活质量。在接受遗传干预之前,与会者希望进一步了解情况。Logistic因素,如给药方式和频率,医疗保健提供者的专业知识,治疗的时机对决策过程有影响。
■这项研究确定了假设,动机,以及在这些新疗法之前需要进一步关注的话题,如果证明有效,可以在临床实践中实施。结果可能有助于设计针对这些和其他罕见的遗传性运动障碍的遗传干预措施的护理途径。
UNASSIGNED: For various genetic disorders characterized by expanded cytosine-adenine-guanine (CAG) repeats, such as spinocerebellar ataxia (SCA) subtypes and Huntington\'s disease (HD), genetic interventions are currently being tested in different clinical trial phases. The patient\'s perspective on such interventions should be included in the further development and implementation of these new treatments.
UNASSIGNED: To obtain insight into the thoughts and perspectives of individuals with SCA and HD on genetic interventions.
UNASSIGNED: In this qualitative study, participants were interviewed using semi-structured interview techniques. Topics discussed were possible risks and benefits, and logistic factors such as timing, location and expertise. Data were analyzed using a generic thematic analysis. Responses were coded into superordinate themes.
UNASSIGNED: Ten participants (five with SCA and five with HD) were interviewed. In general, participants seemed to be willing to undergo genetic interventions. Important motives were the lack of alternative disease-modifying treatment options, the hope for slowing down disease progression, and preservation of current quality of life. Before undergoing genetic interventions, participants wished to be further informed. Logistic factors such as mode and frequency of administration, expertise of the healthcare provider, and timing of treatment are of influence in the decision-making process.
UNASSIGNED: This study identified assumptions, motives, and topics that require further attention before these new therapies, if proven effective, can be implemented in clinical practice. The results may help in the design of care pathways for genetic interventions for these and other rare genetic movement disorders.