Aside from the continuing development of ERT, the IPA was involved in another important project , starting in 2002. This was the establishment of a Patient Registry as Erasmus University, Rotterdam.
Looking ahead to clinical trials with late onset patients, it was acknowledged that the 'natural history' of pompe disease in adults was poorly documented. This meant that, for example, it would be more difficult to show a positive effect of ERT, because there was no baseline to compare patients against. Arnold Reuser and Ans van der Ploeg came up with the innovative idea of a Patient Survey. This would consist of a professionally authored questionnaire to be completed by patients with the anonymised data held at Erasmus University, to be analysed and published. The IPA helped fund the work and ensured that patients themselves had some ownership of their own data. The survey has led to a number of publications, with researcher Marloes Hagemans as the lead author (listed at the link above) - a very valuable contribution to our understanding of Pompe disease.
Yet another ground-breaking success story from the Rotterdam team - and another example of the patient community taking control of their own destiny.