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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Sunday, 27 December 2009

The rest of 1999

1999 was a waiting game. We were all waiting for the results of the ERT clinical trials. From the accounts of the various patient conferences held by national groups, we knew that things were going fairly well. But we wanted to know more. We wanted the hard data and to know what the next stage would be.

In the meantime, the patient community continued to expand. The IPA held telephone conferences of its executive (facilitated by the VSN) and soon these would be expanded to include industry representatives.

People were busy - but all eyes were towards 2000.

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