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, 12 December 2009


Pharming were - and are - a fantastic company. They were pioneers in the field of transgenic animals. Relatively small, young and adventurous. That's why they were willing to take a risk on a product for a disease that no-one had heard of. I am of the belief that without Pharming the development of ERT for Pompe disease would have been much delayed. Certainly, Genzyme had not shown any interest when I had written to them regarding the Rotterdam work.

Over the years they were involved with the Pompe project, I always got the impression that this was more than just a job - they believed in this project. That high level of motivation made for good relations with the patient community and undoubtedly helped progress. They were the right company, with the right product at the right time. And the fact that they were nearly destroyed by later corporate chicanery does not detract from that one bit. I hope that all those from Pharming look back on their involvement with the patient community with pride. We owe them our thanks.

No-one exemplified the Pharming commitment to the Pompe project better than Gerben Moolhuizen, the Project Director. Gerben got in touch in early 1997, to bring me up to date with the project. That established a relationship between the AGSD-UK and Pharming based on openess and trust. They knew that confidential and commercially sensitive information could be shared without it going any further.

Pharming were taking a novel and potentially controversial approach. They had genetically engineered animals by adding the human alpha-glucosidase gene to them, along with a marker that meant that the resulting human enzyme was expressed in the animals' milk. This cleverly did away with the need for complex bioreactors, with all their special growth mediums, difficulties in keeping sterile. Just feed grass in and get alpha-glucosidase-rich milk out.

One problem though was that the animal Pharming were not producing the milk in cows, or even sheep or goats - but rabbits.  At first this seems odd, not to say bizarre. However the reasoning was solid - the rapid generation time allowed production to be increased quickly due to the relatively short time taken for the animals to reach breeding (and milk producing) maturity. The downside was that it was going to take an awful lot of rabbits to produce the required volume of milk.

One question I often used to get asked was "But how do you milk a rabbit?" To which the obvious answer was "You sit on a very small stool." However the true - and only slightly less amusing answer - is that you buy a rabbit-milking machine. Apparently cheese made from rabbit milk is considered to be a delicacy in some quarters. Who knew?

As a postscript to the above, I once asked Gerben Moolhuizen what precautions were taken to preserve these very valuable rabbits, in the case of some catastrophic accident. he replied that I shouldn't worry because samples of semen from the genetically engineered rabbits were deep frozen so that, in such an event, the breeding line could be quickly restored. I mention that simply to point out that there are worse jobs than milking rabbits.

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