Abstract

Objective

Pompe disease is a rare autosomal recessive disorder caused by the deficiency of acid α-glycosidase resulting in accumulation of glycogen in the lysosomes. The late-onset form of the disease (LOPD) causes primarily progressive muscle weakness and respiratory insufficiency. Enzyme replacement therapy (ERT) introduced in 2006, showed mild improvement or stabilization of the symptoms although long-term data are limited. Aim of the study was to describe the progression of body composition and walking ability in LOPD patients receiving ERT consistently for 9 years.

Methods

Lean body mass, bone mineral density, body fat and 6 min walking distance were assessed in three male and three female LOPD patients (height 165.8 ± 11.2 cm, age 42.3 ± 11.8yrs, body mass 71.1 ± 20.8 kg, at study entry), every three years, for 9 years since ERT initiation (T0, T3, T6, T9).

Results

Total body and upper extremities’ lean mass remained unchanged (p < 0.05), but it was decreased for the lower extremities (T3:13.06 ± 3.848 kg vs. T9:11.63 ± 3.49 kg, p < 0.05). Lean body mass was not significantly different after 9 years of ERT compared to before the ERT initiation (T0 to T9). Bone mineral density remained unchanged. Percent body fat increased (T0:39.1 ± 10.3%, vs. T9:43.1 ± 10.4%, p < 0.05). Six minute walking distance tended to increase after 3 years of ERT and decreased gradually thereafter, with no difference between T0-T9. Lean mass of the lower extremities adjusted for body weight was significantly correlated with 6 min walking distance (r = 0.712, p < 0.05).

Conclusion

The current data show that enzyme replacement therapy may preserve lean body mass, bone mineral density and walking capacity in LOPD patients.

中文翻译：

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酶替代疗法 9 年后晚发性庞贝病患者的身体成分和 6 分钟步行能力

摘要

客观的

庞贝病是一种罕见的常染色体隐性遗传疾病，由酸性α-糖苷酶缺乏导致糖原在溶酶体中积累引起。该疾病的迟发性形式 (LOPD) 主要导致进行性肌肉无力和呼吸功能不全。2006 年引入的酶替代疗法 (ERT) 显示出症状的轻微改善或稳定，尽管长期数据有限。该研究的目的是描述持续接受 ERT 9 年的 LOPD 患者的身体成分和行走能力的进展。

方法

对三名男性和三名女性 LOPD 患者（身高 165.8 ± 11.2 厘米，年龄 42.3 ± 11.8 岁，体重 71.1 ± 20.8 公斤，在研究开始时）进行了瘦体重、骨矿物质密度、体脂肪和 6 分钟步行距离的评估，每三年一次，自 ERT 启动后 9 年（T0、T3、T6、T9）。

结果

全身和上肢的瘦体重保持不变（p  < 0.05），但下肢下降（T3：13.06 ± 3.848 kg vs. T9：11.63 ± 3.49 kg，p  < 0.05）。与 ERT 开始前（T0 至 T9）相比，ERT 9 年后的瘦体重没有显着差异。骨矿物质密度保持不变。体脂百分比增加（T0：39.1 ± 10.3%，对比 T9：43.1 ± 10.4%，p  < 0.05）。6分钟步行距离在ERT 3年后呈增加趋势，此后逐渐减少，T0-T9无差异。根据体重调整的下肢瘦体重与 6 分钟步行距离显着相关（r  = 0.712，p  < 0.05）。

结论

目前的数据表明，酶替代疗法可以保持 LOPD 患者的瘦体重、骨矿物质密度和行走能力。