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.

Search This Blog

Sunday, 27 December 2009

IPA Founding Conference part 4

Here is my own contemporary account (posted on GSDNet on 7 July 1999):

There's not much that I can add to Gezinus's very good report but I'll give some of my own impressions.

It was a very intense few days, to the extent that I feel a little drained and flat right now. But it was very good - I got the feeling that there really was a Pompe's community, the different parts of which were represented at the meeting.

I should say right at the start that the VSN (Miriam and Haske) did a good job of organising the meeting - the arrangements and venue were very good.

The scientific talks were all good. I have to make a small complaint because I had to follow Maryze's talk which had made a deep impression on the audience. You could have heard a pin drop while she spoke. As she spoke for a while, I'm sure the audience must have been breathing but I didn't see or hear anyone do it. She did a first class job of impressing on the audience just why this research was so important.

Ans van der Ploeg's talk was quite positive but didn't give the definitive results. She was obviously bursting to say what she thought the trial was showing but, quite properly, only wanted to give facts not her impressions. The facts that she gave were: All 4 babies who started
the trial 5 months ago are still alive. There will be 2 birthday celebrations this week. That is obviously encouraging but while it is unusual for children to live so long after diagnosis, it is by no means unknown. Some Pompe's babies do live well past their first birthday and, in addition, these particular babies are receiving a high level of care. So, cautious optimism is the order of the day.

There was no word on extension of the trial other than 'later this year'.

Synpac are very much in the business of developing enzyme replacement therapy for Pompe's and have enormous resources to put behind this aim.  Ed Tang of Synpac made a short statement which seemed to me to be full of restrained passion (my subjective impression of course) and which left me in no doubt of  his and Synpac's commitment.  Also on the company front, Genzyme will be the company patients' groups deal with, rather than Pharming.

I don't know which of these two companies will win the race. Normally, I have an inclination to support the underdog - but in this case I don't know who the underdog is!

As regards the IPA itself, it seems to have a head of steam behind it. I wasn't 100% sure of this before the conference but I am now. We will meet again next year, and a working group was set up to  co-ordinate this and to make the IPA into a formal, legal entity. The website at
http://www.worldpompe.org will contain the text of decisions and also of the presentations given. It might take a few weeks though...

And that's it really. I've probably forgotten all sorts of important stuff so others can correct me. However, I don't think it is going too far to call it a historical occasion and I was glad to be part of it. I met old friends and new friends and even some old friends that I hadn't actually met yet, like Thomas Schaller.

Onwards and upwards..


No comments:

Post a Comment