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Updated: May 28, 2026
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Improved exercise tolerance after enzyme replacement therapy in Pompe disease
Mauro Marzorati1, Simone Porcelli, Barbara Reggiori
1Institute of Bioimaging and Molecular Physiology, CNR, Segrate, Milan, Italy. mauro.marzorati@ibfm.cnr.it
Enzyme replacement therapy (ERT) significantly improved exercise capacity in a Pompe disease patient within one month. These benefits for exercise tolerance were sustained up to 24 months of ERT.
Area of Science:
- Neuromuscular disorders
- Metabolic myopathies
- Clinical exercise physiology
Background:
- Pompe disease is a rare genetic disorder affecting muscle strength.
- Enzyme replacement therapy (ERT) is a new treatment option.
- Effects of ERT on exercise physiology are not well-documented.
Observation:
- A 50-year-old patient with Pompe disease underwent ERT.
- Physiological variables were measured during exercise before and after ERT.
- Measurements included gas exchange, cardiac output, and muscle oxygen extraction.
Findings:
- Submaximal exercise showed reduced exertion and improved tolerance with ERT.
- Peak oxygen uptake increased by 35% after one month of ERT.
- Peak cardiac output increased, while muscle oxygen extraction remained unchanged.
Implications:
- ERT can enhance peak exercise capacity and submaximal exercise tolerance in Pompe disease.
- Benefits are evident early in treatment and sustained long-term.
- ERT may improve cardiovascular and respiratory function during exercise.
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