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, 19 September 2009

Tidying up before the next phase

Before I get into the story of the patient community and its involvement in the development of ERT, there are a few loose ends to tidy up.

Back in 1993, there were three groups looking at ERT. Arnold Reuser's in Rotterdam (of which more soon), Y T Chen's at Duke and Frank Martiniuk's in New York.

Frank Martiniuk had some interesting work and always gave me the impression of someone who was prepared to push things forward. For some reason (luck, politics, who knows) his group was not one of those that eventually participated in trials of ERT. I met him briefly - just to shake his hand really - at a Pompe conference some years later. However I'd like to thank him, not only for his efforts at pushing forward research into what was then a deeply unfashionable field, but also for an act of generosity that was much appreciated by me at the time.

Following my trawl through the literature, as described earlier, I wrote to him and asked him how his work was going. I didn't get an immediate reply, however I did receive in the post a large bundle of papers related to his work. It must have cost a fortune to post from the USA, never mind the time and trouble it took to put it together for me. I read it all avidly and still have it. Thanks, Frank.

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