Karaa Amel, Johnson Nathan, Clarkson Ian, Newman Wendy, Dorenbaum Alejandro, Cohen Bruce H
Division of Genetics (AK), Massachusetts General Hospital, Pediatric Department, Harvard Medical School; Endpoint Outcomes (NJ, IC), Boston, MA; Reneo Pharmaceuticals, Inc (WN, AD), San Diego, CA; and Akron Children's Hospital (BHC), Department of Pediatrics and Integrative Medical Sciences, Northeast Ohio Medical University.
Neurol Clin Pract. 2024 Feb;14(1):e200229. doi: 10.1212/CPJ.0000000000200229. Epub 2023 Dec 22.
Primary mitochondrial myopathies are genetic disorders that primarily affect peripheral skeletal muscles. Patients with primary mitochondrial myopathies often experience muscle weakness, fatigue, and other significant impacts on health-related quality of life. The aim of this noninterventional qualitative study was to collect the most bothersome fatigue-related symptoms and impacts reported by patients with primary mitochondrial myopathies and determine whether the questions included in an existing patient-reported outcome measure, the Modified Fatigue Impact Scale, are relevant and interpretable for this population.
The interviews contained a concept elicitation exercise to understand the most bothersome primary mitochondrial myopathies symptoms and impacts and a cognitive debriefing section to review the questions included in the Modified Fatigue Impact Scale for relevance and interpretability. Transcripts were coded using ATLAS.ti software.
Interviews were conducted with 16 patients who were aged 16 years and older with a genetically confirmed and clinical diagnosis of symptomatic primary mitochondrial myopathies. Concept elicitation interviews established that while patients with mitochondrial myopathies reported a wide variety of symptoms and impacts, one of the most impactful symptoms discussed was fatigue. Cognitive debriefing interview results confirmed that the Modified Fatigue Impact Scale items were relevant, were interpretable, and largely captured patients' experience with fatigue.
Fatigue was one of the most widely discussed experiences discussed by participants and was considered the most important symptom/impact to treat by most of the participants. The Modified Fatigue Impact Scale could be used in future clinical trials to measure treatment benefit in fatigue-related impacts.
原发性线粒体肌病是主要影响外周骨骼肌的遗传性疾病。原发性线粒体肌病患者常出现肌肉无力、疲劳等症状，对健康相关生活质量产生重大影响。这项非干预性定性研究的目的是收集原发性线粒体肌病患者报告的最困扰人的与疲劳相关的症状和影响，并确定现有患者报告结局测量工具——改良疲劳影响量表（Modified Fatigue Impact Scale）中的问题对此人群是否相关且可解释。
访谈包含一个概念引出练习，以了解最困扰人的原发性线粒体肌病症状和影响，以及一个认知反馈部分，以审查改良疲劳影响量表中的问题是否相关且可解释。使用ATLAS.ti软件对访谈记录进行编码。
对16名年龄在16岁及以上、经基因确诊且临床诊断为有症状的原发性线粒体肌病的患者进行了访谈。概念引出访谈表明，虽然线粒体肌病患者报告了各种各样的症状和影响，但讨论的最具影响力的症状之一是疲劳。认知反馈访谈结果证实，改良疲劳影响量表的项目是相关的、可解释的，并且在很大程度上反映了患者的疲劳体验。
疲劳是参与者讨论最多的经历之一，并且被大多数参与者认为是最需要治疗的重要症状/影响。改良疲劳影响量表可用于未来的临床试验，以测量与疲劳相关影响的治疗效果。
