2013-11-19
Survival, Quality of Life and Effects of Enzyme Replacement Therapy in Adults with Pompe Disease
Publication
Publication
Overleving, kwaliteit van leven en effecten van enzymtherapie bij volwassen patienten met de ziekte van Pompe
Pompe disease, or glycogen storage disorder type II, is a rare inherited metabolic disorder caused by deficiency of the lysosomal enzyme acid α-glucosidase. This results in accumulation of glycogen in cells throughout the body, particularly muscle cells. The disease presents with (progressive) muscle weakness and can hence be categorized as a lysosomal storage disorder, a glycogen storage disorder and also a neuromuscular disorder. Pompe disease was the first neuromuscular disorder for which treatment became available, and the development of enzyme replacement therapy for Pompe disease has played a fundamental role in the development of therapies for other rare diseases including neuromuscular and lysosomal storage disorders. This introductory chapter reviews the history, pathophysiology and clinical characteristics of Pompe disease and provides an overview on the effects of enzyme replacement therapy.
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| , , , , | |
| A.T. van der Ploeg (Ans) | |
| The research described in this thesis was supported by grants obtained from the ZonMw – the Netherlands Organisation for Health Research and Development [project no. 152001005]; the Dutch TI Pharma initiative “Sustainable Orphan Drug Development through Registries and Monitoring (T6-208); “EUCLYD – a European Consortium for Lysosomal Storage Diseases” (health F2/2008 grant agreement 201678); the Prinses Beatrix Fonds [project no. OP07-08]; and Genzyme Corporation, Cambridge, MA, USA. Financial support for printing of this thesis was kindly supported by Genzyme Corporation and Vereniging Spierziekten Nederland. | |
| Erasmus University Rotterdam | |
| hdl.handle.net/1765/50092 | |
| Organisation | Erasmus MC: University Medical Center Rotterdam |
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Güngör, D. (2013, November 19). Survival, Quality of Life and Effects of Enzyme Replacement Therapy in Adults with Pompe Disease. Retrieved from http://hdl.handle.net/1765/50092 |
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