Winkler Maren, von Landenberg Christina, Kuchenbecker Katharina, Reimann Jens, Kornblum Cornelia
Department of Neurology, Neuromuscular Diseases Section, University Hospital Bonn, Venusberg-Campus 1, 53127 Bonn, Germany.
Department of Neurology, Neuromuscular Diseases Section, University Hospital Bonn, Venusberg-Campus 1, 53127 Bonn, Germany; Center for Rare Diseases, University Hospital of Bonn, Venusberg-Campus 1, 53127 Bonn, Germany.
Neuromuscul Disord. 2022 Mar;32(3):195-205. doi: 10.1016/j.nmd.2022.01.001. Epub 2022 Jan 13.
Enzyme replacement therapy (ERT) with recombinant human acid alpha-glucosidase (rhGAA) in late-onset Pompe disease (LOPD) shows beneficial effects in the first years often followed by a decline. We aimed to examine long-term ERT effects in an elderly LOPD cohort. Patients with age at diagnosis/start of ERT >50 years and ERT duration > seven years were included. Outcome parameters were MRC sum-score, 6 Minute Walk Test 6MWT, Quick Motor Function Test QMFT, forced vital capacity FVC sitting/supine, CK levels and rhGAA IgG antibody titers. We retrospectively analysed six patients with a median age at diagnosis/start of ERT of 63 years (range 52-69), and a median ERT duration of eight years (range 7-12). 6MWT improved in 4/6, and 2/6 each showed an improvement or stabilization in muscle strength and FVC supine. In contrast, FVC showed a decline in all patients in a sitting position, and QMFT worsened in 5/6. CK levels decreased in all patients. Antibody titers were not associated with treatment effects. Highest titers were present in best responders who were female, still ambulatory and without ventilatory support at follow-up. ERT effects were very heterogeneous and showed best results in 6MWT, followed by muscle strength in manual testing and FVC supine.
在晚发型庞贝病（LOPD）中，使用重组人酸性α-葡萄糖苷酶（rhGAA）进行酶替代疗法（ERT）在最初几年显示出有益效果，但随后往往会出现下降。我们旨在研究老年LOPD队列中ERT的长期效果。纳入诊断/开始ERT时年龄>50岁且ERT持续时间>7年的患者。观察指标包括医学研究委员会（MRC）总分、6分钟步行试验（6MWT）、快速运动功能测试（QMFT）、坐位/仰卧位用力肺活量（FVC）、肌酸激酶（CK）水平和rhGAA IgG抗体滴度。我们回顾性分析了6例患者，诊断/开始ERT时的中位年龄为63岁（范围52 - 69岁），ERT中位持续时间为8年（范围7 - 12年）。6MWT在4/6的患者中有所改善，2/6的患者肌肉力量和仰卧位FVC分别有所改善或稳定。相比之下，所有患者坐位时FVC下降，5/6的患者QMFT恶化。所有患者的CK水平均下降。抗体滴度与治疗效果无关。抗体滴度最高的是随访时为女性、仍能行走且无需通气支持的最佳反应者。ERT效果非常不均一，在6MWT中效果最佳，其次是手动测试中的肌肉力量和仰卧位FVC。
