Dr J C Pompe

Dr J C Pompe
Discoverer of Pompe disease

About this blog

What you can read here is the story of the development of enzyme replacement therapy (ERT), the first effective treatment for Pompe disease. It is an incredible story, rich with events, characters and science. Above all, it is the story of an international community of scientists, doctors, patients and companies, working together towards a common goal.

It is not a story that features in Geeta Anand's book, The Cure , or the film based on it, Extraordinary Measures despite the fact that they are ostensibly about the development of ERT for Pompe ( you can link straight to the relevant articles covering the events described in the book and film here, here and here).

This blog represents my small attempt to set the record straight and to give the story back to its rightful owners - the international Pompe community. It is written here in roughly chronological order i.e. you'll need to start at the bottom of the April 2009 archive page and work your way up.

It is also a personal account and, although I've tried to make it as objective as possible, there is an inevitable degree of subjectivity. For that reason I have included contributions from other members of the worldwide Pompe community and would be delighted to receive more. Feedback is also welcome.

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Wednesday, 20 January 2010

2002 - the IPA patient registry

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.

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