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

Friday, 3 July 2009

The story so far...

Sitting down to write this up has brought back many, many memories. Consequently, it's taking me longer than I thought to sift though files of letters, emails etc.

While I do that, here's a quick summary of where we've got to so far:

Pompe discovered the disease
Hers explained it
Reuser and van der Ploeg worked out a way to treat it with enzyme replacement therapy.

That is the main narrative. Anything you read that purports to be the story of the development of ERT and doesn't have those names in it is not an accurate account. Simple as that.

Now, before I get into the patient group stuff (which is where I really will need some help, as we will be entering a more subjective realm) let me take the scientific story one step further.

As I showed in my last post, the Dutch team had shown that ERT could be made to work. What was needed though, was a supply of phosphorylated enzyme (because it has to be the phopshorylated version to work - you remember that, right?). It turns out that they had the start of the answer to that problem because Arnold Rueser's laboratory had cloned the gene for the enzyme.

This was a huge step forward because once you have the gene in a test tube, you can work at inserting it into other cells. For example, a standard type of cell used in laboratory and other work are chinese hamster ovary cells. These are the type that are used by Genzyme in their huge fermenters. Imagine huge amounts of those cells, all producing that vital enzyme. That's what cloning the gene opened up.

So having cloned this gene - and opening the way to eventual commerical production of the enzyme - the Dutch did a remarkable thing. They gave it away.

They gave it to Y T Chen's team at Duke University and to John Hopwood in Australia (with whom they had a continuing collaboration). That led to the creation of two cell lines producing phosphorylated alpha-glucosidase.

Thanks to an act of scientific generosity, the future was opening up.

No comments:

Post a Comment