Late onset Pompe disease (LOPD) is a slow, progressive disorder characterized by skeletal and respiratory muscle weakness. Enzyme replacement therapy (ERT) slows down the progression of muscle symptoms. Reliable biomarkers are needed to follow up ERT-treated and asymptomatic LOPD patients in clinical practice. In this study, 32 LOPD patients (22 symptomatic and 10 asymptomatic) underwent muscle MRI using 3-point Dixon and were evaluated at the time of the MRI with several motor function tests and patient-reported outcome measures, and again after one year. Muscle MRI showed a significant increase of 1.7% in the fat content of the thigh muscles in symptomatic LOPD patients. In contrast, there were no noteworthy differences between muscle function tests in the same period of time. We did not observe any significant changes either in muscle MRI or in muscle function tests in asymptomatic patients over the year. We conclude that 3-point Dixon muscle MRI is a useful tool for detecting changes in muscle structure in symptomatic LOPD patients and could become part of the current follow-up protocol in daily clinics.

中文翻译：

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定量肌肉MRI追踪晚期庞贝病患者：一项前瞻性研究。

迟发性庞贝病（LOPD）是一种缓慢的进行性疾病，其特征是骨骼肌和呼吸肌无力。酶替代疗法（ERT）可以减缓肌肉症状的发展。在临床实践中，需要可靠的生物标记物来随访接受ERT治疗和无症状的LOPD患者。在这项研究中，对32例LOPD患者（22例有症状和10例无症状）进行了3点Dixon肌肉MRI检查，并在MRI时通过多项运动功能测试和患者报告的结局指标对其进行了评估，并于一年后再次进行了评估。肌肉MRI显示，有症状的LOPD患者大腿肌肉的脂肪含量显着增加了1.7％。相反，在同一时间段内，肌肉功能测试之间没有显着差异。在过去的一年中，我们在无症状患者的肌肉MRI或肌肉功能测试中均未观察到任何显着变化。我们得出的结论是，三点Dixon肌肉MRI是检测有症状LOPD患者肌肉结构变化的有用工具，并且可能成为日常诊所当前随访方案的一部分。