Abstract
Pompe disease primarily affects skeletal and cardiac muscles. It is difficult to assess therapeutic efficacy of enzyme replacement therapy (ERT) using primary end points based on changes in weakness of large limb-girdle muscles, gait-endurance, and respiratory function, which all depend on variable day-to-day patient performance. In contrast, muscle improvement might be shown by assessing function of very small muscles, such as the stapedius and tensor tympani muscles. We therefore tested whether ERT benefits in Pompe patients can be shown by stapedius reflex testing before and after ERT.
Highlights
Pompe disease primarily affects skeletal and cardiac muscles
It is difficult to assess therapeutic efficacy of enzyme replacement therapy (ERT) using primary end points based on changes in weakness of large limb-girdle muscles, gait-endurance, and respiratory function, which all depend on variable day-to-day patient performance
Muscle improvement might be shown by assessing function of very small muscles, such as the stapedius and tensor tympani muscles
Summary
Pompe disease primarily affects skeletal and cardiac muscles. It is difficult to assess therapeutic efficacy of enzyme replacement therapy (ERT) using primary end points based on changes in weakness of large limb-girdle muscles, gait-endurance, and respiratory function, which all depend on variable day-to-day patient performance. Stapedius reflex testing shows altered small muscle function in untreated Pompe patients and improvement after enzyme replacement therapy From Proceedings of the 6th European Symposium: Steps Forward in Pompe Disease Berlin, Germany. Introduction Pompe disease primarily affects skeletal and cardiac muscles.
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