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, 16 January 2010

The conference itself

After all that drama, the conference itself was great. I met many people whom I 'knew' from email, some for many years by this time. I realised that we had perhaps become a little blaze about our European meetings where we now took it for granted that leading researchers and company representatives would attend and keep us up to date. For many attendees, there had been nothing like this before.  There were presentations from all the key scientific players. Genzyme/Novazyme were there and clearly eager to build bridges following their latest gaffe. for my part, I was only to happy to do what I could to help them. At the time, I saw them as simply having made a silly mistake - least said, soonest mended. A really positive experience for all concerned and well done to the Houses for organising it (and funding most of it).

The show-stopper was Ans van der Ploeg's presentation of the Rotterdam juvenile trial - the first results we had seen of ERT in anyone other than infantile patients.  And what results. A young man in a wheelchair was shown getting up and jumping out of it, amongst other activities.  Very dramatic. The other results had also been positive, though not as good. However one patient from that trial - Tiffany House - was able to make a presentation to the conference herself which we may take as a positive outcome in itself.

During the conference I had a breakfast meeting with John Crowley. I hadn't had the chance to catch up with him since the Novazyme interview and was eager to speak with him. John told me that he had sold to Genzyme because he had decided that this was the best way to get the Novazyme treatment to patients. Furthermore, now that he was in charge of the overall Pompe project, he would be bringing Novazyme's patient-oriented approach with him. He told me that he was keen to maintain the dialogue with the IPA.  This was all music to my ears.  Bear in mind that, at this point, I had no idea that the Novazyme product was a complete dud. As far as I was concerned, John was one of the 'Pompe family' and the fact that he was in charge now could only be good for us and for the project. As it turned out, I was wrong.

Not because John Crowley is a bad man - he is not. But because of what seems blindingly obvious in hindsight - no-one on Earth can be expected to take objective decisions on something that their own children's lives depend on.  I didn't see that at the time because I wasn't capable of thinking objectively either.

Three in a row for Genzyme.

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