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, 20 January 2010

2002 - continued

2002 continued the established pattern of regular liaison between Genzyme and the IPA.

Where possible, there were public reports of these meetings. For example, the visit of the IPA Executive to Genzyme HQ, on 16/17 April 2002 led to a positive joint statement. This was followed by accounts of the teleconference in September 2002 and a further update in December 2002.  Of course, these were only the public face of continuous contacts at various levels.

On of the main decisions, early in 2002, was to progress to commercialisation using Genzyme's own in-house enzyme, priduced using their own cell line. We were therefore in the position where the eventual product was not that used in either the first clinical trial in Rotterdam or the second trial at Duke University. Of course, the actual enzyme was very similar - what changed was simply the method of production. After all, insulin used today is not produced in the same way as that used in Banting and Best's Nobel Prize-winning work on developing a treatment for diabetes. It doesn't lessen their achievement one bit. Likewise, the fact that Genzyme now produce alpha-glucosidase in their own cell line does not detract one iota from the ground-breaking achievements of the pioneering Rotterdam team, or the following trial at Duke.

Genzyme agreed that the clinical trial patients should continue to receive the enzyme they received in the trial (Pharming for Rotterdam, Synpac for Duke) until an orderly transition could be arranged.  It's fair to say that this was the cause of a great deal of discussion and concern.  Patients who had done well, particularly with the Pharming enzyme, were - understandably - apprehensive about switching to another product. A particular issue was the fact that the Pharming enzyme was given at a higher dosage and it was felt that a benefit was lost on transfer to the lower dosage Genzyme product. Some of those directly involved may care to comment here.

Genzyme continued to make progress with production, bringing more bioreactors on stream. 2002 progressed according to plan, with a series of further trials being announced in November 2002.  At the same time, it was announced that John Crowley would be leaving Genzyme. There's a little more about this in The Cure but essentially he had not been able to separate his personal and professional situations. I don't blame him for that - I don't think there's anyone in the world who could have done so. His replacement was Frank Ollington, who I would credit as being the person who brought the project to fruition. Frank's attitude was - I paraphrase wildly - "I don't give a rat's ass if you like me - my job is to make this product happen."  And he did.

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