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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Tuesday, 6 October 2009


Right, back to our trawl through the dusty archives. At the risk of eliminating all suspense, here are the things that happened: There was a UK Pompe meeting organised by the Hal Brodhurst Trust; Ans van der Ploeg came to the AGSD UK Conference; I started a website for the AGSD-UK, with Pompe information; and last but not least, I had my first contact with a US couple called Randall and Marylyn House. All important in their different ways. I'll do them as separate blogs over the next week or so.

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