Children with Pompe disease: clinical characteristics, peculiar features and effects of enzyme replacement therapy
Kinderen met de ziekte van Pompe: klinische karakteristieken, bijzondere kenmerken en effecten van enzymtherapie
Pompe disease is a metabolic myopathy. Since the first description of the disease in 1932 by J.C. Pompe,1 tremendous progress has been made from discovering the biochemical and genetic basis of the disease to developing enzyme replacement therapy (ERT). With this therapy, the management of Pompe disease has moved from supportive care alone, to a disease-specific intervention aimed at correcting the underlying enzymatic defect. While in the past research mainly concentrated on elucidating the biochemical pathways and pathophysiology of Pompe disease, nowadays focus has shifted towards documenting the natural history of the disease and studying the effect of the new treatment. A structured follow-up of a large number of patients is difficult in a rare disorder like Pompe disease. The establishment of an expert center for Pompe disease at the Erasmus MC University Medical Center has helped us to systematically study all Pompe patients living in the Netherlands. At present, we follow 149 patients, of which 18 patients are diagnosed with classic-infantile Pompe disease; and 20 children and 111 adults with less progressive forms of the disease. The studies in this thesis have focused on children with Pompe disease. Our aim was to delineate the first presentation and clinical characteristics of the disease and to study the long-term effects of enzyme replacement therapy with recombinant human alpha-glucosidase.
|Keywords||Pompe disease, children, enzyme replacement therapy, metabolism, pediatrics, myopathy|
|Promotor||A.T. van der Ploeg (Ans)|
|Publisher||The work described in this thesis was conducted at the Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC, Rotterdam, The Netherlands Financial support for the studies published in this thesis was obtained from ZonMW (the Netherlands Organisation for Health Research Development), the Dutch TI Pharma initiative “Sustainable Orphan Drug Development through Registries and Monitoring”, European Union, 7th Framework programme EUCLYD- European Consortium for Lysosomal Storage Disorders, and the Prinses Beatrix Fonds. Printing of this material has been made possible by a grant from Amicus Therapeutics Inc. Additionally, financial support was kindly provided by Shire, Genzyme, and Biomarin Pharmaceutical Inc.|
van Capelle, C.I. (2014, June 18). Children with Pompe disease: clinical characteristics, peculiar features and effects of enzyme replacement therapy. Erasmus University Rotterdam. Retrieved from http://hdl.handle.net/1765/51521