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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Tuesday, 6 October 2009

Ans van der Ploeg's visit to the AGSD-UK conference

As mentioned in an earlier post Dr Ans van der Ploeg had agreed to speak at the 1995 AGSD UK conference, which was held in Birmingham on 28 May.

This was a very exciting prospect. For one thing, it would give the other Pompe families the opportunity to see that the Dutch team were not a figment of my imagination. The impact of a real person standing in front them talking about her promising research was not to be under-estimated. It would also mark something of a departure of the AGSD-UK, with a main talk at the conference being given over to Pompe disease, rather than one of the liver-based GSDs.

In short, I was anxious for it to go well. So when Hugo Del Mar, son of AGSD-UK co-founder Sue Del Mar, offered to pick up Dr van der Ploeg from the airport in his new two-seater sports car, I was delighted. "That will impress her!", I thought. I reflected on this example of my innate shallowness later, as I watched a fairly heavily pregnant Ans van der Ploeg extricate herself from the tiny sports car...

Ans van der Ploeg (yes, the one on the right) receiving an award for her pioneering work on Pompe disease.

The talk itself was excellent and well-received. It strengthened the resolve of the Pompe group to do something to support the work of the Rotterdam team and fund-raising began in earnest, though there was, at that point, nothing specific to support. Nevertheless, from that time on, we had a real goal.

Dr van der Ploeg was, needless to say, charm itself and dealt with her and her unborn child being squeezed into a sports car with her customary sang-froid. Many people (most, even) would have found pregnancy a more than adequate reason to cancel the talk. However - and this is typical of the whole Rotterdam team - having made a commitment to patients, she did not want to disappoint, regardless of the personal inconvenience.

Ans van der Ploeg is blessed with cleverness, good looks and a list of achievements that includes - aside from the minor matter of developing a treatment for Pompe disease - such things as national cross-country skating.

Normally of course, such a super-abundance of talents in one individual would draw the disapproval of all right-thinking people, given that so many of us have to get by with none at all. However, like everyone else, I am prepared to make an exception in Ans' case, as she has put her considerable abilities towards the service of others - and with such good effect.

The Hal Brodhurst Trust

The Hal Brodhurst Trust has an honourable corner of the Pompe story that deserves to be remembered.

Hal was the son of Robin and Desiree Brodhurst and suffered from infantile Pompe disease. When he was 6 months old, Hal had a radical treatment, a combined heart and bone marrow transplant, carried out in July 1993. The surgeon was the heart transplant pioneer, Sir Magdi Yacoub. Sadly, the treatment was not effective and Hal died four months later.

His parents established the Hal Brodhurst Trust in July 1994, in order to help fund research into Pompe disease. The aims of the Trust were:

1. To advance education by the promotion of research into the causes and treatment of glycogen storage disorders with particular concern for type 2 Pompe's Disease on terms that the results of such research are published. 2. to relieve the sickness of people suffering from glycogen storage disorders with particular concern for type 2 Pompe's Disease and in particular and without limitation to promote the establishment of a unit dedicated to the treatment of glycogen storage disorder patients at a United Kingdom hospital.
They raised funds which were put at the disposal of Magdi Yacoub, who established a small team at Harefield Hospital, near London. A Pompe Disease workshop was held there on 31 March 1995 and I attended on behalf of the AGSD-UK. The focus very much reflected Sir Magdi's own interests, with several talks on transplantation. Arnold Reuser also made a presentation. Robin and Desiree conducted themselves with their usual quiet dignity.

Something that particularly sticks in my mind is that Sir Magdi said that his research strategy would be to sequence the Pompe mutations, find out what had gone wrong and then find a way of making the mutated enzymes work again. I was astonished by this because it was vanishingly unlikely to work (I still do think that, regardless of the fact that an analogous approach is being pursued by Amicus Therapeutics) . Being a great man in one field is no guarantee of being right in another one. But I digress.

The team at Harefield, led by Ann Child of the Institute of Child Health in London, looked at Pompe tissue samples from across the UK and carried out DNA sequencing. The work was published in the journal Human Mutation in 1998. The paper, by Clare Beesley, described some novel mutations causing Pompe disease (including the one I carry, if I remember rightly). After that, the Trust faded from view and, as far as I know, no longer exists.

Partly, this was a reflection of the limitations of charities dedicated to one child. With the best will in the world, by their very nature they find it difficult to draw the wider support needed for the longer haul. This reinforced my view that the AGSD-UK route was the right one for whatever contribution I was able to make. It also brought home to me the importance of a Scientific Advisory Board to give broad-based specialist advice.

However, and most importantly, the Hal Brodhurst Trust had the considerable achievement of funding the first UK research into Pompe disease. An important milestone and a lasting memorial for Hal.


Right, back to our trawl through the dusty archives. At the risk of eliminating all suspense, here are the things that happened: There was a UK Pompe meeting organised by the Hal Brodhurst Trust; Ans van der Ploeg came to the AGSD UK Conference; I started a website for the AGSD-UK, with Pompe information; and last but not least, I had my first contact with a US couple called Randall and Marylyn House. All important in their different ways. I'll do them as separate blogs over the next week or so.