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
De ziekte van Pompe bij kinderen en volwassenen: Verdere inzichten in de klinische presentatie en lange termijn eff ecten van ERT : een voorbeeld van duurzame data verzameling bij zeldzame ziektes
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.
|Keywords||Pompe disease, myopathy, enzyme replacement therapy, natural course, patient reported outcomes|
|Promotor||A.T. van der Ploeg (Ans) , M.E. Kruijshaar (Michelle)|
|Publisher||Erasmus University Rotterdam|
|Sponsor||The research presented in this thesis was financially supported by ZonMw – the Netherlands Organization for Health Research and Development [projectnumbers 152001005], “Prinses Beatrix Spierfonds” [projectnumber W.OR13-21,W.OR15-10, W.OR16-07], TKI – Health Holland [projectnumber LSHM16008], the European Union, 7th Framework Programme [“EUCLYD” a European consortium for lysosomal disorders], TiPharma [T6-208], the International Pompe patient Association, and Sanofi Genzyme.|
van der Meijden, J.C. (2017, December 12). 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. Erasmus University Rotterdam. Retrieved from http://hdl.handle.net/1765/103184