Vielhaber Stefan, Brejova Andrea, Debska-Vielhaber Grazyna, Kaufmann Joern, Feistner Helmut, Schoenfeld Mircea A, Awiszus Friedemann
Department of Neurology, Medical Faculty, Otto-von-Guericke-University, Leipziger Str. 44, D-39120 Magdeburg, Germany.
Clin Neurol Neurosurg. 2011 Jun;113(5):350-7. doi: 10.1016/j.clineuro.2010.09.016. Epub 2011 Apr 7.
Late-onset Pompe disease is a slowly progressive disorder resulting from deficiency of lysosomal acid alpha-glucosidase (GAA). Since 2006, an intravenous enzyme replacement therapy (ERT) with Myozyme™ (alglucosidase alfa) is available but long-term experience with ERT in late-onset Pompe disease is still limited.
Two adult patients with impaired walking ability and disease duration of 10 and 13 years, respectively received ERT over a period of 24 months. Clinical and functional parameters including dynamometer-based assessment of proximal muscle strength were registered longitudinally.
In both patients some gain in function and physical endurance could be observed which was collaborated by stable dynamometer tests. No serious adverse events occurred and no patient required de novo ventilation.
The clinical results from our data base imply that long term enzyme replacement therapy seems to somewhat affect functionality and quality of life and can stabilize the otherwise progressive disease course in patients with late-onset Pompe disease.
晚发型庞贝病是一种由于溶酶体酸性α-葡萄糖苷酶（GAA）缺乏导致的缓慢进展性疾病。自2006年以来，可使用Myozyme™（阿糖苷酶α）进行静脉酶替代疗法（ERT），但晚发型庞贝病ERT的长期经验仍然有限。
两名步行能力受损、病程分别为10年和13年的成年患者接受了为期24个月的ERT。纵向记录临床和功能参数，包括基于测力计的近端肌肉力量评估。
在两名患者中均观察到功能和身体耐力有所改善，测力计测试结果稳定，证实了这一点。未发生严重不良事件，也没有患者需要重新进行通气。
我们数据库的临床结果表明，长期酶替代疗法似乎对功能和生活质量有一定影响，并且可以稳定晚发型庞贝病患者原本进展性的病程。
