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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Wednesday, 1 April 2009


Where to begin?

Just 16 years ago, Pompe's disease (glycogen storage disease type 2, acid maltase deficiency) was still an untreatable condition, invariably fatal in infants and relentlessly progressive in older children and adults. That is all changed now. The story of how that change came about is a remarkable one. It's a story that I have been threatening to write a book about for the last 6 years and have signally failed to do so! This blog is an attempt to put that right and to do so in a way that allows the wider Pompe community to add to, comment on and correct what I have written.

I have to confess that this blog is also, in part, a reaction to Geeta Anand's book, The Cure, soon to be the basis for a Hollywood film. It's not a bad book. It's the inspiring story of one man, John Crowley, whom I rather like and admire. What it is not is the story of the development of a treatment for Pompe disease. In fact, in that respect, the book is akin to reading a history of World War 2, told entirely from the perspective of Switzerland: "Skiing good. Apparently the neighbours are fighting about something or other. Most importantly, we have invented Toblerone!"

The Cure misses the main narrative out altogether, along with most of the important milestones in the development of enzyme replacement therapy. However the most glaring omission is the complete absence of any mention - any mention at all - of the role played by the international patient community in bringing about the availability of a treatment. The alliance between patient groups, researchers and industry is a model for the development of treatments for other rare diseases.

This is a story that needs to be told and I will attempt to do that justice here, though I hope I will have some help. I have a large file of material that I intend to work my way through - I know that others have their own archives and I hope that they will contribute from them. The result may not be strictly chronological but I hope that it will be as objective as possible.

Lastly, a quick word about myself. I'll post the story of my involvement later, however, just to be clear at the outset, I have no claim to have played any significant part in the events that will be described here. What I did have, was a ringside seat during what was a very exciting time. What follows is the view from that ringside seat.

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