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

2003 - onwards and upwards

2003 signaled the end of one era and the beginning of another.  From now on, news of friends receiving ERT would begin to come thick and fast - every one of them a cause for rejoicing.

It would take until 29 March 2006 (Europe) and 28 April 2006 (USA) before the formal approval of Myozyme as a treatment.  However even that was not the end of the road - there are still issues around funding and, above all, ERT is a treatment, not a cure.


The fight goes on, carried out by an international community of patients, scientists, doctors and companies. I hope that others will contribute the rest of the story here.


I myself 'retired' from the Pompe scene at the end of 2003. It had been 10 years since Calum died and my dream of seeing an effective treatment for Pompe disease had come true. We wanted to remember our son for his short, but wonderful, time with us and not for his disease. There were other people better suited than I to do my remaining jobs. It was time to move on.

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