Newman Jane, Galna Brook, Jakovljevic Djordje G, Bates Matthew G, Schaefer Andrew M, McFarland Robert, Turnbull Douglass M, Trenell Michael I, Taylor Robert W, Rochester Lynn, Gorman Gráinne S
Wellcome Trust Centre for Mitochondrial Research Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
Newcastle University Institute for Ageing, Institute of Neuroscience, Newcastle upon Tyne, NE4 5PL, UK.
J Neuromuscul Dis. 2015 Jun 4;2(2):151-155. doi: 10.3233/JND-140061.
Currently there are no known cures and few effective treatments for mitochondrial disorders. It is also true there is a lack of knowledge about suitable clinician rated outcomes and how these change over time in this patient cohort.
We sought to evaluate the validity and responsiveness to change of clinician rated outcome measures in patients with m.3243A>G-related mitochondrial disease.
We assessed the six minute timed walk (6MTW), 10 meter walk / test (10MWT), Timed up and Go (TUG) and the 5 times sit to stand (5XSTS), in 18 patients (12 sedentary controls), at baseline and a subgroup of 10 control-matched patients following a 16-week structured aerobic exercise intervention program.
All outcome measures assessed were valid and able to differentiate between patients and controls. Disease severity, as measured by the Newcastle Mitochondrial Disease Adult Scale, correlated with TUG (r = 0.54, p = 0.020) and 10MWT (r = 0.47, p = 0.050). Receiver Operating Curve analysis revealed 5XSTS to be the most responsive measure (AUC 0.931; 95% CI 0.84- 1.00) with responsiveness to change, post intervention, emulating disease burden variance.
The 5XSTS can be used to discriminate between mitochondrial patients and sedentary controls with high accuracy. The 10MWT and TUG may serve as suitable and clinically relevant clinician rated measures to track disease progression and assess intervention.
目前线粒体疾病尚无已知的治愈方法，有效的治疗手段也很少。同样，对于适合的临床医生评定结局以及这些结局在该患者群体中随时间如何变化，人们也缺乏了解。
我们试图评估临床医生评定结局指标在患有m.3243A>G相关线粒体疾病患者中的有效性和对变化的反应性。
我们在基线时对18例患者（12例久坐对照者）以及10例与对照匹配的患者在进行为期16周的结构化有氧运动干预计划后的亚组中，评估了6分钟定时步行（6MTW）、10米步行/测试（10MWT）、计时起立行走测试（TUG）和5次坐立试验（5XSTS）。
所评估的所有结局指标都是有效的，并且能够区分患者和对照者。用纽卡斯尔线粒体疾病成人量表测量的疾病严重程度与TUG（r = 0.54，p = 0.020）和10MWT（r = 0.47，p = 0.050）相关。受试者工作特征曲线分析显示5XSTS是最具反应性的指标（曲线下面积0.931；95%可信区间0.84 - 1.00），干预后对变化的反应性模拟了疾病负担的变化。
5XSTS可用于高精度地区分线粒体疾病患者和久坐对照者。10MWT和TUG可能是用于跟踪疾病进展和评估干预的合适且与临床相关的临床医生评定指标。
