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, 13 December 2009

The birth of the International Pompe Association

The birth of the IPA was an important event in the Pompe story. In fact, I think it was almost - but not quite - as important a development as ERT itself. Certainly the two stories are very intertwined. It represented the maturing of an international patient community into a representative organisation that could talk on something like equal terms with industry and scientists.

The roots of the IPA are as follows. I should say that my picture here is incomplete, for reasons that will become clear. Where I have gaps, I will follow my usual course of guessing (i.e. making stuff up) to fill them in. I will point out when I am doing that though.

I knew that Pompe groups were beginning to coalesce in different parts of the world. Helen Walker, Bet Cook and Bob Morrison were organising up a storm in Australia; Thomas Schaller and Gerd Hassler were bringing together the German patients within the glycogen storage disease group there. The UK and US have been mentioned. However there is a gaping hole in the canvass that I will now try to fill - The Netherlands.

The Dutch patients were the largest group of all and were organised within the neuro-muscular diseases charity, the VSN (Vereniging Spierziekten Nederland).  This was a very different group from the others. The VSN was a professional organisation, well-funded, with a critical mass that allowed it to sustain full time employees and a national head-quarters. They would bring those resources to bear on helping to organise the international Pompe community. This was, I think, a strategy formulated by the VSN head, Ysbrand Poortman, who had the far-sighted idea that the interaction of the Pompe patient community with scientists/doctors and industry could be a model for the development of treatments for other diseases.

The VSN were obviously closely involved with Pharming. This, in turn, brought them into contact with Randall and Marylyn House. The Houses took a close interest in Pharming, for obvious reasons, and may (I don't know; none of my business) have invested in the company. Randall, I think, viewed this fledgling company with a businessman's eye.

Ysbrand therefore suggested that, with the prospect of clinical trials, now was the time for an international patient organisation. I remember that Randall called me about this is obviously had some doubts. I think he had a concern that this would be a distraction and would there actually be a benefit? I was immediately struck by the thought that this was an idea whose time had come and hopefully my enthusiasm went some way to bringing the AMDA on board. The IPA would not have been the success it became without them; together we were all stronger.

The upshot of that was a letter from Ysbrand Poortman, inviting me to a meeting on 21 March, to discuss the organisation of an international Pompe conference.  The meeting was to be held after a meeting of the Dutch Pompe group, which I also attended. The international conference was original planned for October 1998 but was held over until 1999, both to accommodate some clinical trial results and to avoid a clash with a US conference being held at the National Institutes of Health, Bethesda, Maryland (of which more later).

I went along to the Dutch patient meeting.  I remember being impressed at the size of the meeting (though, of course, the actual proceedings were in Dutch). I met, for the first time, Maryze Schoneveld van der Linde, who also took part in the organising meeting and this was also the first time that I met Marylyn House. As you can imagine, both of them made a strong impression on me.  But more of that later.

The Rotterdam team were present, as were Pharming and their PR company. Actually, I've just remembered an amusing side track. Before we left for the IPA meeting, there was discussion where the Pharming PR man (Rob Meines?) invited the Houses to a lunch meeting the next day, with some politicians and Pharming senior staff. I was clearly not part of the plan, however Arnold Reuser interjected with "And of course, Kevin will be there too, yes?". They could hardly say no, so I ended up sitting in on a lunch at a rather grand hotel in The Hague (the Indies perhaps?), where I was the only person in the building without a tie. Arnold was making sure the AGSD-UK was in the loop and was at the same time entertained by 'the game'.

Anyways, back to the  founding IPA meeting. It took place at the Tulip Inn in Naarden. Present were Randall and Marylyn, Ysbrand Poortman, Helmut Erny, Maryze (and Anton), Miriam Bonink and Nelleke van den Berg (both VSN) and myself.  We agreed to some important actions:

  • To contact individuals in different countries and encourage them to form their own Pompe groups
  • To found an International Pompe Association at an international conference, meantime to be run by an Interim Executive Committee consisting of the above people (but with Ria Broekgaarden representing the VSN)
  • To organise an international Pompe conference for October 1998 (later changed as above)
  • To continue to meet via telephone conferences
And we were off. From now on the Pompe community was a force to be reckoned with.


  1. Here is the announcement on GSDNet on Tuesday 24 March 1998 - kind of like a birth announcement in the newspaper, I guess:

    At a meeting last Saturday (21 March), it was decided to form the International Pompe Association. An intermin Executive committee was formed, under the leadership of Randall and Marylyn House, consisting of representatives from AMDA, VSN and the AGSD(UK).

    At a time when clincial trials for enzyme replacement therapy are close, it was agreed that it is necessary that we organise ourselves formally on an international scale.

    The main function of this interim
    committee will be to organise a founding conference of the IPA in The Netherlands on 9-11 October, 1998, to be hosted by the VSN.

    More details of the conference programme will be made available as they are finalised and any suggestions from the world-wide Pompe community are welcome.

    The conference will not be for individual particpants but for representatives of the Pompe groups in each country. The IEC will
    continue to try to identify groups - or the beginnings of groups - which might be represented.

  2. An account of the Dutch patient meeting, by Gezinus Wolters, originally posted to GSDNet:

    Dear Friends,

    A while ago I promised you that I would give a summary of the meeting on 21th march of the annual meeting of the Pompe-patients of the VSN (www.vsn.nl) in the netherlands. There was a great attendance and even some foreign guests: Randall and Marylyn House of the AMDA, our Kevin O’Donell from Scotland, Hilde Meelbergh and Dave Beeckmans from Belgium
    and Gerd Hassler with partners from Germany. Nice to be able to put some faces to some names. They all said that they mainly came to improve their international contacts, especially with the VSN, but they did not
    fool us: they were really there to hear news from the horses mouths. Like all of us.

    Not to keep you waiting: there was no scattering hot news, but on the other hand: everything seems to be going very well.
    There were two speakers: Dr. Ans van der Ploeg from the Sophia Hospital and Erasmus university in Rotterdam and Mr. Strijker from Pharming. Dr. Reuser was also present and answered some questions.

    Dr. van der Ploeg started to give a short but very clear introduction on the Pompe research until now. Like I said: so far, so good. It is proven now that alpha glucosidase (acid maltase) given to pompe-afflicted mice ends up in the muscle tissue like it should. But Dr. van der Ploeg emphasized that this does not prove yet that it will really work on
    patients, but still it is a good indication.
    So what are the nexts steps and what is the time table?

    Soon this year there will be tests with alpha glucodidase with healthy persons to establish side effects. Later this year Dr. Van der Ploeg and Dr. Reuser will form Pompe-teams with several medical specialists to test small groups of patients. Some groups in the Netherlands and some in the USA. Infantile patients (babies) as well as adults Alpha glucosidase will be given intraveneously (infuse, not injected) once a week. First in a hospital, later in a da-clinic. The questions are: does it end up at the right spot (lysosomes in muscle tissue)? What
    is the best dosage? What are the side effects? And most important: does it work? And if it works: will there only be stabilisation or will there even be improvement?

  3. (Dutch patient meeting report continued)
    To find out all that there will be biopts, scans, measurement of lung function, muscle power, blood gases, the works. There will not be a so called double blind test. This would require too many patients and too much time. So everyone in the test will get the real thing and not half of them placebo’s. We can expect results in six to twelve months, let’s say medio '99. Meanwhile Pharming hopes to apply for registration of the medicine.
    Mr. Strijker from Pharming had positive news too. About 40 people are working on the Pompe project, mainly in Geel, Belgium. There are now more than hundred Pompe rabbits now, reproducing fast, like good rabbits should. About two hundred are needed eventually. Each producing 75-100 ml milk with alpha glucosidase a day, still only 20% of their
    production, the rest is for off spring. Pharming developed special milking machines of course.

    The main effort is now to refine or purify
    the milk to pure alpha glucosidase. The whole production process should be ready somewhere in ’99. So the next result we can expect is of the testing of side effects on healthy persons. Then the small groups of patients.

    If all goes well, Pharming expects to apply for registration in the end of '99. Granting
    the registration will take at least 6 months, maybe even a year. Let’s hope not. Provided all goes well as expected, the test groups of Dr. van der Ploeg and Dr. Reuser do not have to stop the therapy until registration is final. So no one can really say what the outcome is and how long it will take, but we can see the end of the tunnel at least.
    Dr. van der Ploeg emphasized that nothing is certain yet. The big question: will it work has not been answered yet. But sometimes what you see is equally important than what you hear. And what we saw was a very enthusiastic and very result oriented team of researchers. They did caution not to be too optimistic, but they could not suppress their own high expectations. Let’s be thankful that these people chose our disease to aim their efforts on.

    Greetings to you all, I hope I have been sufficiently objective. Which was not easy.

    Gezinus Wolters