Pompe Disease in Children and Adults: Further Insights into the Clinical Presentation and Long-Term Effects of ERT : An example of sustainable data collection in rare diseases

Over the years great progress has been made in elucidating the natural course of Pompe disease, in developing ERT, and in studying its effects. The Erasmus MC is one of the international centers with the longest track record on studies on Pompe disease and has played a large role in the development of ERT for this disease. By following patients both with clinical outcome measures and with PROs through the “IPA/ Erasmus MC Pompe survey”, this center has had a major contribution towards the current knowledge on the disease and its treatment. Yet, there are still remaining questions that need answers. For example, much of the research so far has focused on classic-infantile and adult patients, while there is only limited information on patients who present with the disease during childhood, both in terms of their natural disease progression and the effects of ERT. Also, little is known about factors that modify disease progression or the effect of treatment. This research often requires larger numbers of patients than those seen in many of the individual treatment centers.
In this thesis we aim to further the understanding of Pompe disease and its treatment, and seek answers on some of the important questions that have so far remained unanswered. Furthermore we share our experience on the long term use of the “IPA/ Erasmus MC Pompe survey” so it can serve as an example to be applied in other rare diseases.