Pompe disease is a lysosomal storage disorder caused by deficiency of the enzyme acid alpha-glucosidase and mainly characterized by progressive skeletal muscle weakness. Research on this so far untreatable disease has long been directed towards unraveling the pathophysiological mechanisms and the development of a causal treatment. At the advent of enzyme replacement therapy, the research described in this thesis was intended to include the patientâ €™s perspective in the assessment of the consequences of the disease. The aims were to map out the health status of patients with non- classic or late-onset Pompe disease, to provide more insight in the natural course and rate of progression on a group level, and to evaluate the use of specific self-report measurement scales. These studies form the basis for further follow-up of patients before and after the start of therapy, and are examples of a successful cooperation between patients, patient organizations and universities.

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Heijden, Prof. Dr. A.J. van der (promotor), International Pompe Association and Genzyme Corp., Princess Beatrix Fund
A.J. van der Heijden (Bert)
Erasmus University Rotterdam
Erasmus MC: University Medical Center Rotterdam

Hagemans, M. (2006, June 21). Pompe disease in children and adults: natural course, disease severity and impact on daily life; results from an international patient survey. Retrieved from http://hdl.handle.net/1765/9453