Sports Performance Laboratory, School of Physical Education and Sport Science, National and Kapodistrian University of Athens, Athens, Greece.
1st Department of Neurology, School of Medicine, Eginition Hospital, University of Athens, Athens, Greece.
Int J Neurosci. 2022 Jul;132(7):699-705. doi: 10.1080/00207454.2020.1835902. Epub 2020 Oct 20.
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.
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).
Total body and upper extremities' lean mass remained unchanged ( < 0.05), but it was decreased for the lower extremities (T3:13.06 ± 3.848 kg vs. T9:11.63 ± 3.49 kg, < 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%, < 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 ( = 0.712, < 0.05).
The current data show that enzyme replacement therapy may preserve lean body mass, bone mineral density and walking capacity in LOPD patients.
庞贝病是一种罕见的常染色体隐性遗传病，由酸性α-糖苷酶缺乏引起，导致溶酶体中糖原积累。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。本研究旨在描述接受 ERT 的 LOPD 患者 9 年持续治疗后的身体成分和步行能力的进展。
在 ERT 开始后 9 年（T0、T3、T6、T9），每 3 年评估 3 名男性和 3 名女性 LOPD 患者（身高 165.8 ± 11.2cm、年龄 42.3 ± 11.8 岁、体重 71.1 ± 20.8kg）的瘦体重、骨密度、体脂和 6 分钟步行距离。
全身和上肢的瘦体重保持不变（ < 0.05），但下肢瘦体重减少（T3：13.06 ± 3.848kg 比 T9：11.63 ± 3.49kg， < 0.05）。ERT 9 年后与 ERT 开始前相比，瘦体重无显著差异（T0 至 T9）。骨密度保持不变。体脂百分比增加（T0：39.1 ± 10.3%，T9：43.1 ± 10.4%， < 0.05）。6 分钟步行距离在 ERT 治疗 3 年后趋于增加，此后逐渐下降，但 T0-T9 之间无差异。下肢瘦体重与体重调整后的 6 分钟步行距离呈显著相关（ = 0.712， < 0.05）。
目前的数据表明，酶替代疗法可能会保留 LOPD 患者的瘦体重、骨密度和步行能力。
