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, 29 November 2009

AGSD-UK helps fund Rotterdam group

The UK Pompe patients, organised within the AGSD-UK, had a clear goal. We wanted to raise funds and raise awareness, in order to help the Rotterdam group take their work on ERT forward.

In 1996, there was an opportunity to do exactly that.

The problem for the Dutch group (I am putting words into their mouths here, for which I apologise) was to find a way to make the jump from their ground-breaking experiments that demonstrated that ERT could work in principle, to clinical trials. The funding required for that (£ millions) seemed like an insurmountable problem, however they took the sensible approach of taking one small step at a time. For example,  a collaboration with John Hopwood's lab in Australia had resulted in the development of cells which produced alpha-glucosidase (complete with the critical sugar residues attached) and which were suitable for growing in a production vessel.

The strategy was therefore to use the Hopwood cell line to produce enough alpha-glucosidase to treat one or two patients and hope that a pharmaceutical company would then take it up. This was, to say the least, an approach fraught with uncertainty. However it is also true to say that there was no alternative.

To produce the enzyme, it was proposed to use a new company started by a former student (Martin van der Vliet) of Arnold Reuser's, called Biocell technology, who would build a small-scale fermenter. However this work, while being done at a bargain rate, still needed funding- and, despite applications to grant-awarding bodies and biotechnology companies, none was forthcoming.  That was where the AGSD-UK were able to step in and fund the building of the fermenter via a grant of £10,000. Here's a photo of it below (that's the old AGSD-UK logo in the corner):

This was a great day for the UK Pompe patients - at last we were taking an active part in shaping our own destiny. At the same time, the AMDA were funding similar work at Y T Chen's lab in the US (along with other projects).

I think that the AMDA had also offered to fund the Rotterdam work, however Arnold Reuser and Ans van der Ploeg opted to receive the money from the AGSD-UK instead, a route that involved them in a bit more hoop-jumping. Why? I don't know for sure but here are my guesses. Firstly, they knew how much it would mean to us to do it. Secondly, it always makes sense to keep a diverse range of funding options open - and they knew that the AMDA route would still be open to them in the future. Thirdly - and this is a complete guess on my part - Arnold had a shrewd idea that by allowing us to become a funder, it would give us a seat in future discussions on the development of ERT.

£10,000 is, of course, in the grand scheme of things a small amount (though it represented a lot of hard work and generosity by many people). However, I believe that it had an effect out of all proportion to the amount. Again, I am departing into the realm of conjecture here - what follows represents my opinion only and I am not going to present any evidence to back it up:-)

The reactor was indeed used to produce enzyme that was used in experimental work. However it also demonstrated to Erasmus University (and Sophia Children's Hospital) that the Pompe group were capable of raising funds from overseas to further their work. I think that would have helped to boost their profile.  Most important of all, the Rotterdam group had been in discussions with a biotech company called Pharming, regarding the production of alpha-glucosidase in the milk of transgenic animals. These discussions had been going on for a while and were inconclusive. However the advent of a new funding source (conveniently omitting that it was a small charity with limited resources) may have helped to push Pharming into a decision to commit to the project. It's a great theory - but I have absolutely no idea if it's true!

Soon after, Pharming did indeed commit to the Pompe project. And that decision was the key to making things happen.

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