目标:Charcot-Marie-Tooth病1A型(CMT1A),最常见的遗传性周围神经病变,以进行性感觉丧失和虚弱为特征,导致流动性受损。对CMT1A的遗传学和病理生理学的了解增加导致了潜在治疗剂的开发。需要临床试验准备。可穿戴传感器可以为未来的试验提供有用的结果度量。
方法:这项为期12个月的研究招募了CMT1A患者和未受影响的对照组。参与者佩戴传感器进行临床评估和在家,来自哪个活动,步态,并得出了平衡指标。Mann-WhitneyU检验用于分析活动的群体差异,步态,和平衡参数。检查了步态和平衡参数的重测可靠性以及这些参数与临床结果评估(COA)的相关性。
结果:30个人,15CMT1A,和15个控件,参与。步态和平衡指标表现出中等至优异的可靠性。CMT1A参与者的步长较长(p<.001),较短的步长(p=.03),步态速度较慢(p<.001),与健康对照组相比,姿势摇摆更大(p<.001)。CMT功能结果度量与步长之间存在中等相关性(r=-0.59;p=.02),和步态速度(r=0.64;p=0.01);15名CMT1A参与者中有11名表现出6分钟步行测试的第一季度和最后一个季度之间的步幅持续时间显着增加,暗示疲劳。
结论:在这项初步研究中,来自可穿戴传感器的步态和平衡指标是可靠的,并且与CMT1A患者的COA相关。需要更大的纵向研究来证实我们的发现,并评估这些疾病特异性算法用于临床试验的敏感性和实用性。
Charcot-Marie-Tooth Disease type 1A (CMT1A), the most common inherited peripheral neuropathy, is characterized by progressive sensory loss and weakness, which results in impaired mobility. Increased understanding of the genetics and pathophysiology of CMT1A has led to development of potential therapeutic agents, necessitating clinical trial readiness. Wearable sensors may provide useful outcome measures for future trials.
Individuals with CMT1A and unaffected controls were recruited for this 12-month study. Participants wore sensors for in-clinic assessments and at-home, from which activity, gait, and balance metrics were derived. Mann-Whitney U tests were used to analyze group differences for activity, gait, and balance parameters. Test-retest reliability of gait and balance parameters and correlations of these parameters with clinical outcome assessments (COAs) were examined.
Thirty individuals, 15 CMT1A, and 15 controls, participated. Gait and balance metrics demonstrated moderate to excellent reliability. CMT1A participants had longer step durations (p < .001), shorter step lengths (p = .03), slower gait speeds (p < .001), and greater postural sway (p < .001) than healthy controls. Moderate correlations were found between CMT-Functional Outcome Measure and step length (r = -0.59; p = .02), and gait speed (r = 0.64; p = .01); 11 out of 15 CMT1A participants demonstrated significant increases in stride duration between the first and last quarter of the 6-min walk test, suggesting fatigue.
In this initial study, gait and balance metrics derived from wearable sensors were reliable and associated with COAs in individuals with CMT1A. Larger longitudinal studies are needed to confirm our findings and evaluate sensitivity and utility of these disease-specific algorithms for clinical trial use.