Background/objectives

Late-onset Pompe disease (LOPD) is slowly progressive, making it difficult to assess clinical change and response to interventions. In this study, quantitative muscle ultrasonography (QMUS) and electrical impedance myography (EIM) were evaluated as potential biomarkers.

Methods

25 patients with confirmed LOPD were recruited from the Duke Pompe Clinic and evaluated with standard clinical measures, QMUS, standard EIM (sEIM) and hand-held EIM (hEIM). Patients were evaluated at baseline, 12 months and 24 months. MUS, sEIM and hEIM were compared with the clinical data. Five patients were given hEIM devices to perform measurements at home.

Results

QMUS and hEIM had good reliability as measures of muscle structure and conduction properties. Home, patient-performed hEIM measurements did not differ significantly from those performed in the clinic setting. Thirteen patients completed all follow-up measures. Most measures did not change over the study period, however, vastus lateralis echointensity increased 27%, a sign of declining muscle health. Additionally, significant correlations between QMUS, hEIM and measures of muscle strength and function were present.

Conclusions

QMUS and hEIM may provide useful outcome measures for future studies in LOPD with hEIM providing an opportunity to collect data at home. Larger, multicenter studies are needed to explore these possibilities.

中文翻译：

---

迟发性庞贝病的定量肌肉超声和电阻抗肌电图：可靠性、纵向变化和与功能相关性的初步研究

背景/目标

晚发型庞贝病 (LOPD) 进展缓慢，因此难以评估临床变化和对干预措施的反应。在这项研究中，定量肌肉超声（QMUS）和电阻抗肌动图（EIM）被评估为潜在的生物标志物。

方法

从杜克庞培诊所招募了 25 名确诊的 LOPD 患者，并使用标准临床测量、QMUS、标准 EIM (sEIM) 和手持式 EIM (hEIM) 进行了评估。在基线、12 个月和 24 个月时对患者进行评估。将 MUS、sEIM 和 hEIM 与临床数据进行比较。五名患者获得了 hEIM 设备以在家中进行测量。

结果

QMUS 和 hEIM 作为肌肉结构和传导特性的测量具有良好的可靠性。在家中，患者进行的 hEIM 测量与在诊所环境中进行的测量没有显着差异。13名患者完成了所有随访措施。大多数测量在研究期间没有改变，然而，股外侧肌回声强度增加了 27%，这是肌肉健康状况下降的迹象。此外，QMUS、hEIM 与肌肉力量和功能测量之间存在显着相关性。

结论

QMUS 和 hEIM 可能为 LOPD 的未来研究提供有用的结果测量，而 hEIM 提供了在家收集数据的机会。需要更大规模的多中心研究来探索这些可能性。