Natural course, effects of enzyme therapy and prognostic factors in adults with Pompe disease

Abstract

__Abstract__ \n \nThe Erasmus MC University Medical Center has a longstanding tradition in fundamental \nand clinical research in the field of lysosomal storage diseases with a special focus on \nPompe disease. The pioneering work of our research group has resulted in the successful \nimplementation of enzyme replacement therapy (ERT) for patients with Pompe disease, \nturning it into the first treatable hereditary neuromuscular disorder. In 2007, the Center \nfor Lysosomal and Metabolic diseases at Erasmus MC (formerly known as \xe2\x80\x98Pompe Center\xe2\x80\x99) \nwas appointed by the Dutch health authority as the Center of Excellence for this \nparticular disease. In this function, the center coordinates the care of all patients combined \nwith basic and clinical research. The research performed at the center is denoted \nby its translational character, as basic research and clinical research go hand in hand. \nThe studies described in this thesis follow the tradition of combining patient care \nwith translational research. This introductory chapter provides background information \non Pompe disease with subjects like: clinical manifestations, natural disease course, diagnosis, \npathogenesis, and treatment. The chapter ends with a description of the study \naims and the content of the thesis