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, 14 November 2009

House improvements

I have tried to make this a roughly chronological account but I'm going to go off piste here because I can't give a good portrait of Randall and Marylyn without looking ahead.

In front of me is my first  written communication from the Houses. Dated 29 August, 1995, it expresses sympathy for our loss of Calum, introduces Randall, Marylyn and their daughter Tiffany (then just a 12-year-old slip of a girl) who has Pompe (they have two other children, who do not), shares their conclusions so far and a sheaf of information on diet, including a paper by Pompe patient Donald Ewers. In hindsight it has all the hallmarks that mark out the Houses: compassion for others, sharp analysis and - above all - a drive to translate those things into action. It's a bit of a cliché but I found a lot of the American pioneer spirit in the Houses.

We talked on the phone and exchanged emails and gradually built up a relationship. My dealings were mainly with Randall, whose no-nonsense approach impressed me. We were fairly guarded with each other at first, as we worked out each other's agendas. It's probably true to say that I respected Randall before I liked him - though I came to like him a great deal. He is straight-talking - not given to exaggeration or soft-soaping. I found that if he said something, he meant it and if he said he would do something, he did it.  I quickly realised that the Houses' resources were in a different league and that the most useful thing I could do was to be as open as possible and hope that it was reciprocated (it was).

Randall's words to me were along the lines of "We are not super-wealthy but we do have some means. We would like to use that means to find a treatment for this disease." Little did I realise then how much they would do. I also didn't fully appreciate at the time what those words meant. The Houses owned (still do, I think) a manufacturing business that they had devoted years to building up. That "some means" came from hard work and toil. I think it was, to a significant extent, their life's work up to that point. And yet they unhesitatingly put it at the service of finding a treatment for Pompe disease. In my view, their contribution to the development of a treatment for Pompe disease is as much their life's work as building their successful business.

I think I suggested that to have maximum effect they should found a patient organisation (the AGSD-US was, for whatever reason, less amenable to a devolved Pompe group than the UK version) , rather than act as individuals, and also have a scientific advisory board, to ensure that their money was spent wisely. We were both agreed that enzyme replacement therapy was the way to go.  I don't know whether I had any actual influence, however Randall and Marylyn founded the Acid Maltase Deficiency Association (AMDA) as a patient organisation.  They used that as their base to do some remarkable things.

Firstly, they built the AMDA as a source of advice and information for hundreds of people affected by Pompe disease. Secondly, they did something that had never been done before. They gathered together, at their own personal expense, Pompe experts from all over the globe and hosted a conference for them in San Antonio, Texas. This was on March 21-22, 1996. The talks read like a who's who of the Pompe world. It was followed by a second, even bigger, conference on June 22-23, 1997.

Organising these conferences was an imaginative and  far-sighted act. As important, I think, as the funding that the Houses put into research (again, a significant amount - nearly $5 million to date, according to the AMDA website). They were obviously scientific conferences, not patient ones, however the Houses were kind enough to send me video recordings of each conference, which allowed me to keep right up to date with what was happening. A characteristic piece of generosity on their part.

Looking at the 1996 programme now, I am amused to note that the session started at 7.00 am with breakfast and registration. That's approximately 2.5 hours earlier than most scientists are used to, so I guess Randall and Marylyn were putting their own work ethic stamp on proceedings from the start (1997 had a more leisurely 7.30 am start). The programme was designed by one Tiffany Laurel House, who now heads up the AMDA.

In the founding of the AMDA and the gathering of US patients together, and bringing together scientists, Randall and Marylyn were playing the major role in creating a worldwide Pompe community. In extending those connections to industry (I'm really getting ahead of myself now) they helped found a new model in the development of treatments for rare diseases, one in which patients, researchers, doctors and companies interact. The development of ERT for Pompe was possibly the first instance where an informed patient community said to industry, in effect, "We are your future customers, this is our condition and this is the treatment we would like you to develop." But more of that later.

For now, it's enough to say that Randall and Marylyn  changed the game. In a very real sense, they made ERT happen. They made it happen while being part of an international community. And they made it happen not just for Tiffany but for all Pompe patients.

I don't think I actually met Randall until 1997, at the AGSD-UK's annual conference. Here's my earliest memory of him. We had introduced ourselves and I noted that he was wearing a formal business suit, unlike my scruffy self. I was fussing about trying to make some sense of the organisation of the Pompe session out of the customary AGSD-UK chaos. There was a group of parents who had found some space on the floor in order to feed/change their young children. Next time I turned around, Randall had hunkered down on the floor, amongst the crumbs, in his business suit, in order to talk with them. That's my abiding image of Randall House. Sorry, I can't tell you what brand of suit it was - or what kind of watch he was wearing.

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