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, 6 January 2010

Back on track - progress on the real treatment

After that excursion to plant Novazyme, we go back to the development of a treatment for Pompe disease.

The results of the clinical trials, corporate shenanigans and subsequent buy-out of Synpac had left patients feeling uneasy. The Rotterdam (and Duke) results had been promising yet the corporate turbulence had confused the picture. What exactly was going on? Could we still rely on genzyme? What was going to happen next?

At the AGSD-UK conference, held in Oxford in September 2000, we got some answers.

An attached  IPA meeting ensured a good international presence and genzyme sent over a high-powered delegation, including Jan van Heek, second in command of the company. That itself sent a message that they meant business.

What follows in the next couple of posts is the account that originally appeared on GSDNet at the time, complete with some contemporary photographs.

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