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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Saturday, 6 February 2010


I go to many conferences as part of my work as well as personal activities and I can honestly say that the 2003 IPA conference remains the best I have ever been to. It was held on 31 October- 2 November, in Heidelberg, Germany.  Everything was superb: the location, the presentations, the cameradie, the beer...

The conference website and follow-up (including proceedings) are still available to read for yourself.

There was also a Q and A session released on the website and GSDNet.

That the conference was such a roaring success is in large part down to the organisers, Thomas Schaller, Birgit Wolf, Rita & Helmut Erny  from the German patient group.

Conference participants

However one other reason is that, here, for the first time, much of the talk was about success. Successful trials, successful enzyme production and the prospect of many more people being treated in the coming year. We had come a long way.

There was still a long way to go, of course, but as Marilyn House put it at the time " everyone came away with new sense of enthusiasm and cooperation for the treatment of Pompe's disease."


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