Pompe disease in children and adults: natural course, disease severity and impact on daily life; results from an international patient survey
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.
|Keywords||Pomp Disease, acid maltase deficiency, alpha-glucosidase deficiency, patient reported outcome measures|
|Promotor||Heijden, A.J. van der (Bert)|
|Sponsor||Heijden, Prof. Dr. A.J. van der (promotor) , International Pompe Association and Genzyme Corp. , Princess Beatrix Fund|
Hagemans, M.L.C.. (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