McCormick Elizabeth M, Peterson James T, Santos Joaquim Diego D, Flickinger Jean, Xiao Rui, Haas Richard, Zolkipli-Cunningham Zarazuela
Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Center for Rehabilitation, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Ther Adv Chronic Dis. 2025 Jul 25;16:20406223251344763. doi: 10.1177/20406223251344763. eCollection 2025.
The impact of Mitochondrial Myopathy (MM) symptoms on functional ability across activities of daily living (ADLs) has not been fully characterized, nor is it understood how MM patients define their key symptoms. Furthermore, it is unclear what MM individuals perceive as a clinically meaningful improvement.
We sought to characterize how MM patients feel about their symptoms in the key MM domains of muscle weakness, muscle fatigue, exercise intolerance, imbalance, and peripheral neuropathy; as well as their functional ability.
We conducted a single-center, observational, qualitative study that involved standardized structured and semi-structured patient interviews.
Most interview questions were open-ended, allowing individuals to provide personalized narratives that were transcribed in real time. A total of 33 individuals with MM were interviewed either in-person or remotely. Interview transcripts underwent thematic analysis in accordance with grounded theory. Data was presented using a mixed-methods approach.
Subjects provided extensive narratives that demonstrated the substantial and widespread impact of MM across many aspects of MM patient lives, including the impact of each MM domain of muscle weakness, muscle fatigue, exercise intolerance, imbalance, and peripheral neuropathy on ADLs; the need to adapt to preserve independence and quality of life (QOL); impaired self-perception, participation in social activities, hobbies, and relationships; and change in circumstances over time.
These meaningful insights highlight the critical and emergent need for approved drug treatment(s) in this profoundly burdened patient population. Our results will serve as a comprehensive resource to inform the physician, patient, industry and advocacy communities on outcome measure selection and clinical trial design; and to help inform regulatory agencies in the United States Food and Drug Administration (FDA) drug approval process for MM.
线粒体肌病（MM）症状对日常生活活动（ADL）功能能力的影响尚未得到充分描述，MM患者如何定义其关键症状也尚不明确。此外，MM患者认为具有临床意义的改善是什么也不清楚。
我们试图描述MM患者在肌肉无力、肌肉疲劳、运动不耐受、平衡障碍和周围神经病变等关键MM领域的症状感受，以及他们的功能能力。
我们进行了一项单中心、观察性、定性研究，包括标准化的结构化和半结构化患者访谈。
大多数访谈问题是开放式的，允许个体提供实时转录的个性化叙述。共有33名MM患者接受了面对面或远程访谈。访谈转录本根据扎根理论进行主题分析。数据采用混合方法呈现。
受试者提供了丰富的叙述，表明MM在MM患者生活的许多方面产生了重大且广泛的影响，包括肌肉无力、肌肉疲劳、运动不耐受、平衡障碍和周围神经病变等每个MM领域对ADL的影响；适应以保持独立性和生活质量（QOL）的必要性；自我认知受损、参与社交活动、爱好和人际关系受到影响；以及随着时间推移情况的变化。
这些有意义的见解凸显了在这个负担沉重的患者群体中对获批药物治疗的迫切需求。我们的结果将作为一份全面的资源，为医生、患者、行业和倡导团体提供有关结局指标选择和临床试验设计的信息；并有助于为美国食品药品监督管理局（FDA）MM药物批准过程中的监管机构提供参考。
