Translational Medicine, Novartis Institutes for BioMedical Research, Basel, Switzerland.
Translational Medicine, Novartis Institutes for BioMedical Research, Cambridge, Massachusetts, USA.
Ann Clin Transl Neurol. 2021 Sep;8(9):1845-1856. doi: 10.1002/acn3.51438. Epub 2021 Aug 6.
Friedreich's ataxia is an inherited, progressive, neurodegenerative disease that typically begins in childhood. Disease severity is commonly assessed with rating scales, such as the modified Friedreich's Ataxia Rating Scale, which are usually administered in the clinic by a neurology specialist.
This study evaluated the utility of home-based, self-administered digital endpoints in children with Friedreich's ataxia and unaffected controls and their relationship to standard clinical rating scales.
In a cross-sectional study with 25 participants (13 with Friedreich's ataxia and 12 unaffected controls, aged 6-15 years), home-based digital endpoints that reflect activities of daily living were recorded over 1 week. Domains analyzed were hand motor function with a digitized drawing, automated analysis of speech with a recorded oral diadochokinesis test, and gait and balance with wearable sensors.
Hand-drawing and speech tests were easy to conduct and generated high-quality data. The sensor-based gait and balance tests suffered from technical limitations in this study setup. Several parameters discriminated between groups or correlated strongly with modified Friedreich's Ataxia Rating Scale total score and activities of daily living total score in the Friedreich's ataxia group. Hand-drawing parameters also strongly correlated with standard 9-hole peg test scores.
Deploying digital endpoints in home settings is feasible in this population, results in meaningful and robust data collection, and may allow for frequent sampling over longer periods of time to track disease progression. Care must be taken when training participants, and investigators should consider the complexity of the tasks and equipment used.
弗里德赖希共济失调是一种遗传性、进行性、神经退行性疾病，通常在儿童时期开始。疾病严重程度通常通过评分量表来评估，例如改良弗里德赖希共济失调评分量表，该量表通常由神经病学专家在诊所进行管理。
本研究评估了基于家庭、自我管理的数字终点在弗里德赖希共济失调患儿及其未受影响的对照组中的应用，并评估了它们与标准临床评分量表的关系。
在一项横断面研究中，共有 25 名参与者（13 名弗里德赖希共济失调患儿和 12 名未受影响的对照组，年龄 6-15 岁），在家中进行了为期一周的日常生活活动数字终点记录。分析的领域包括数字化绘图的手部运动功能、记录的口头交替发音测试的自动语音分析，以及可穿戴传感器的步态和平衡。
手部绘图和语音测试易于进行，且生成了高质量的数据。基于传感器的步态和平衡测试在本研究设置中受到技术限制。几个参数可以区分组间差异，或者与弗里德赖希共济失调组的改良弗里德赖希共济失调评分量表总分和日常生活活动总分强相关。手部绘图参数也与标准的 9 孔钉测试分数强相关。
在该人群中，在家庭环境中部署数字终点是可行的，可产生有意义且稳健的数据收集，并且可能允许在更长的时间内频繁采样以跟踪疾病进展。在培训参与者时必须小心谨慎，研究人员应考虑任务和使用设备的复杂性。
