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, 27 December 2009

IPA Founding Conference part 5

Last on the IPA conference for now - though I may come back to it.

A couple of take-home messages.

Firstly, we now knew that the trials were progressing fairly well. Ans van der Ploeg's comment that they they would be celebrating 2 birthdays in the next week was a broad hint that things were going quite well but also that we should not expect any preliminary accounts of results. An optimum balance between compassion and professionalism.

Secondly, the patient representatives went away with specific goals to broaden and strengthen the international patient community. The IPA itself was to prove a durable framework for future work, particularly as a focus for dealing with industry. Special mention here must go to Helmut Erny who did the hard work of writing up a proper legal constitution.

Lastly, some archive photos courtesy of the VSN:

 (L to R: John Hopwood, Kevin O'Donnell, Ysbrand Poortman)



 
 (L to R Marylyn House, Gezinus Wolters, Kevin O'Donnell


 
Arnold Reuser and John Hopwood

John Hopwood is a good guy and a stalwart supporter of the Aussie patient group. His contributions to Pompe research are many and varied, from the first cell line producing enzyme to new approaches to neonatal diagnosis. However, I have to confess that I felt his talk at this conference - which was excellent - was somewhat over-shadowed by his enthralling account of how he resuscitated his son's goldfish.

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