Optimizing individualized clinical care in heterogeneous rare disorders, such as primary mitochondrial disease (PMD), will require gaining more comprehensive and objective understanding of the patient experience by longitudinally tracking quantifiable patient-specific outcomes and integrating subjective data with clinical data to monitor disease progression and targeted therapeutic effects. Electronic surveys of patient (and caregiver) reported outcome (PRO) measures were administered in REDCap within clinical domains commonly impaired in patients with PMD in the context of their ongoing routine care, including quality of life, fatigue, and functional performance. Descriptive statistics, group comparisons, and inter-measure correlations were used to evaluate system feasibility, utility of PRO results, and consistency across outcome measure domains. Real-time tracking and visualization of longitudinal individual-level and cohort-level data were facilitated by a customized data integration and visualization system, MMFP-Tableau. An efficient PRO electronic capture and analysis system was successfully implemented within a clinically and genetically heterogeneous rare disease clinical population spanning all ages. Preliminary data analyses demonstrated the flexibility of this approach for a range of PROs, as well as the value of selected PRO scales to objectively capture qualitative functional impairment in four key clinical domains. High inter-measure reliability and correlation were observed. Between-group analyses revealed that adults with PMD reported significantly worse quality of life and greater fatigue than did affected children, while PMD patients with nuclear gene disorders reported lower functioning relative to those with an mtDNA gene disorder in several clinical domains. Incorporation of routine electronic data collection, integration, visualization, and analysis of relevant PROs for rare disease patients seen in the clinical setting was demonstrated to be feasible, providing prospective and quantitative data on key clinical domains relevant to the patient experience. Further work is needed to validate specific PROs in diverse PMD patients and cohorts, and to formally evaluate the clinical impact and utility of harnessing integrated data systems to objectively track and integrate quantifiable PROs in the context of rare disease patient clinical care.

中文翻译：

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弥合临床研究差距：利用电子数据采集、集成和可视化平台系统评估线粒体医学中患者报告的前瞻性结果

优化原发性线粒体疾病 (PMD) 等异质性罕见疾病的个体化临床护理，需要通过纵向跟踪可量化的患者特异性结果并将主观数据与临床数据相结合来监测疾病进展和治疗，从而对患者体验进行更全面和客观的了解。具有针对性的治疗效果。在 REDCap 中对患者（和护理人员）报告的结果 (PRO) 测量进行电子调查，这些临床领域是 PMD 患者在持续的常规护理中通常受损的领域，包括生活质量、疲劳和功能表现。描述性统计、组比较和测量间相关性用于评估系统可行性、PRO 结果的实用性以及结果测量领域的一致性。定制的数据集成和可视化系统 MMFP-Tableau 促进了纵向个人级别和队列级别数据的实时跟踪和可视化。高效的 PRO 电子捕获和分析系统已在各个年龄段的临床和遗传异质罕见疾病临床人群中成功实施。初步数据分析证明了该方法对于一系列 PRO 的灵活性，以及​​所选 PRO 量表在客观捕获四个关键临床领域的定性功能障碍方面的价值。观察到高测量间可靠性和相关性。组间分析显示，患有PMD的成年人报告的生活质量明显比受影响的儿童差，并且更容易疲劳，而患有核基因疾病的PMD患者报告称，在几个临床领域相对于患有mtDNA基因疾病的患者来说，功能较低。事实证明，对临床环境中罕见疾病患者的相关 PRO 进行常规电子数据收集、集成、可视化和分析是可行的，可以提供与患者体验相关的关键临床领域的前瞻性和定量数据。需要进一步的工作来验证不同 PMD 患者和队列中的特定 PRO，并正式评估利用集成数据系统在罕见病患者临床护理背景下客观跟踪和整合可量化 PRO 的临床影响和效用。