24-Months results in two adults with Pompe disease on enzyme replacement therapy

Abstract

Objective Late-onset Pompe disease is a slowly progressive disorder resulting from deficiency of lysosomal acid alpha-glucosidase (GAA). Since 2006, an intravenous enzyme replacement therapy (ERT) with Myozyme™ (alglucosidase alfa) is available but long-term experience with ERT in late-onset Pompe disease is still limited. Methods Two adult patients with impaired walking ability and disease duration of 10 and 13 years, respectively received ERT over a period of 24 months. Clinical and functional parameters including dynamometer-based assessment of proximal muscle strength were registered longitudinally. Results In both patients some gain in function and physical endurance could be observed which was collaborated by stable dynamometer tests. No serious adverse events occurred and no patient required de novo ventilation. Conclusion The clinical results from our data base imply that long term enzyme replacement therapy seems to somewhat affect functionality and quality of life and can stabilize the otherwise progressive disease course in patients with late-onset Pompe disease.