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.
Acknowledgements
We wish to express our gratitude to all of the patients who participated in the present study.
Disclosure statement
The authors have no conflict of interest to report.
Funding
The authors received no funding for this project.