Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.
Service de Réanimation médicale et unité de ventilation à domicile, centre de référence neuromusculaire GNHM, CHU Raymond Poincaré, Garches, France.
Mol Genet Metab. 2017 Sep;122(1-2):80-85. doi: 10.1016/j.ymgme.2017.06.007. Epub 2017 Jun 20.
The efficacy of enzyme replacement therapy (ERT) in patients at an advanced stage of Pompe disease has only been addressed in a few studies. Our objective was to assess the long term effects of ERT in a cohort of patients with severe Pompe disease.
We identified patients from the French Pompe Registry with severe respiratory failure and permanent wheelchair use (assisted walk for a few meters was allowed) when starting ERT. Patients' medical records were collected and reviewed and respiratory and motor functions, before ERT initiation and upon last evaluation were compared.
Twelve patients (7 males) were identified. Median age at symptom onset was 24years [IQR=15.5; 36.0]. At baseline ventilation was invasive in 11 patients and noninvasive in one, with a median ventilation time of 24h [IQR=21.88; 24.00] (min 20; max 24). ERT was initiated at a median age of 52.5years [IQR=35.75; 66.50]. Median treatment duration was 55months [IQR=39.5; 81.0]. During observational period no adverse reaction to ERT was recorded, five patients (41.67%) died, three decreased their ventilation time by 30, 60 and 90min and two increased their assisted walking distance, by 80 and 20m.
Some patients at a very advanced stage of Pompe disease may show a mild benefit from ERT, in terms of increased time of autonomous ventilation and of enlarged distance in assisted walk. ERT can be initiated in these patients in order to retain their current level of independence and ability to perform daily life activities.
在少数研究中仅探讨了处于庞贝病晚期的患者使用酶替代疗法（ERT）的疗效。我们的目的是评估严重庞贝病患者队列中 ERT 的长期疗效。
我们从法国庞贝病登记处中确定了开始 ERT 时患有严重呼吸衰竭和永久性轮椅使用（仅允许辅助行走几米）的患者。收集并回顾了患者的病历，比较了 ERT 开始前和最后评估时的呼吸和运动功能。
确定了 12 名患者（7 名男性）。症状发作的中位年龄为 24 岁[IQR=15.5；36.0]。基线时，11 名患者需要进行有创通气，1 名患者需要进行无创通气，通气时间中位数为 24 小时[IQR=21.88；24.00]（最小值 20；最大值 24）。ERT 开始时的中位年龄为 52.5 岁[IQR=35.75；66.50]。中位治疗持续时间为 55 个月[IQR=39.5；81.0]。在观察期间，未记录到 ERT 的不良反应，5 名患者（41.67%）死亡，3 名患者的通气时间减少了 30、60 和 90 分钟，2 名患者的辅助行走距离增加了 80 和 20 米。
一些处于庞贝病晚期的患者可能会从 ERT 中获得轻度获益，表现为自主通气时间增加和辅助行走距离扩大。可以为这些患者启动 ERT，以维持其当前的独立性和日常生活活动能力。
