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, 16 January 2010

The Duke results

Although the results were now widely known, it is worth noting that March 2001 saw the publication of the results of the Duke University trial led by YT Chen, using the Synpac enzyme. There was the inevitable press release from Genzyme/Pharming and a paper published in Genetics in Medicine.  Only the abstract is available free unfortunately.

This largely (with the caveat previously mentioned) confirmed the results from the Rotterdam trail.

It was also a real achievement for Yuan-Tsong Chen and his co-workers. Known to all as 'YT', Chen was (still is) a well known and well-liked figure amongst US patients. This was partly because his interest in the glycogen storage diseases extended to types I and III, the liver-based GSDs. These are very different from Pompe and, thankfully, more treatable. YT had the reputation of being a diligent and committed doctor, as well as a good scientist.

One name missing from the list of authors for the Duke paper was Johan van der Houe. He had been a collaborator in the earlier Chen papers and retained a close interest in the subject. He had returned to his native Belgium, where he was involved in the clinical trials. I had met Johan at a number of meetings of the years - he was, in fact, one of my earliest and most helpful scientific contacts. His commitment and contribution deserves to be noted and this seems like a good place to do so.

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