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, 20 December 2009

The 1998 AGSD-UK Conference

The 1998 AGSD-UK conference was held on 3rd October, in Oxford. I should say that I've only mentioned the Pompe parts of these conferences, however the covered all the different types of GSD.

As was now becoming customary, there were a number of international visitors. Randall House from the USA, also Rick Garrett, whom I knew from GSDNet, and from France, a charming girl called Christelle Faure.  Christelle was the French leader of the Pompe patients right up until her untimely death. While researching this project, reading over the many email exchanges we had has made me realise what an impact she had and how much she is missed. More of Christelle later.

There were two important talks in the Pompe session. One was from Gerben Moolhuisen, who was pretty sporting about his Synpac rival sitting in the audience. Gerben talked people through the Pharming process and - I think - confirmed that the Phase I trials (in healthy individuals) had been successful. The Phase II trials would not start until December at the earliest. The participants and locations had not yet been finalised, however he emphasised that the numbers would be small.

Needless to say, this was all spell-binding news. However he also said something else which sent the spirits soaring. Gerben pointed out that what Pharming had at present was essentially a pilot production facility and a full scale production plant would take two years to build. However, Pharming were so confident/commited to the Pompe project that they were already one year into the building of this facility, in Geel, Belgium. This went down very well with the audience. Of course, the international patient network was now such that we had received regular accounts from Belgium of progress on the Geel site, from planning permission meetings onwards!

That was a difficult act to follow. However the next speaker had, if anything, an even more profound effect upon the audience. I have already mentioned that Genzyme's lead product was Ceredase/Cerezyme, the ERT for Gaucher disease. As the UK Gaucher patients were already receiving ERT under the NHS (it was, at that point, the most expensive treatment available via the NHS) I thought that it would be interesting to hear what they had to say. As I had made contact with the Gaucher Society's secretary, Susan Lewis, via Wayne Rosenfield's mailing list, I invited her along.

Susan was absolutely spell-binding. She spoke about the difference ERT had made to her and other Gaucher patients and went on to demonstrate the equipment used to deliver enzyme infusions and described how easy and routine it could be. The effect on her audience was electrifying; she had made ERT real.  For the first time, the UK patients knew that ERT was actually something real and attainable. I think the same went for Randall House too.

Susan Lewis continued to be a good friend to the Pompe community and supplied the AGSD-UK with frank and open advice about dealing with the NHS, politicians and pharmaceutical companies. Sadly, Susan died on 8 May 2007. Her obituary gives more details of her remarkable life.

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