The true story of the development of a treatment for Pompe disease.
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.
The 1997 AGSD-UK conference took place on 25 May, in Slough, near London. Coincidentally, I used to live in Slough and managed to get the Mayor, Lakhbir Minhas, to come an open the conference, which ensured some local news coverage and also gave a suitable sense of occasion. I also managed to blag a few boxes of chocolate bars from my old employer. Let's just say that we were well prepared for work, rest and playing. And just as well, for this was to be a remarkable conference, for all sorts of reasons.
A report from the Slough Observer! Photo shows Mayor Minhas, Me, Elaine & Euan, Arnold Reuser and Ann Philips. It also contains my embryonic daughter, Catriona who was born in December. We got the CVS all-clear on the drive down.
And the rival Sough Express was not to be outdone!
Firstly, there were a number of international attendees, mainly from the Pompe field. From memory, Gerd Hassler from Germany, Bob Morrison from Australia, Ross Harvey (jr's brother),Randall House and YT Chen from the USA and Gerben Moolhuizen and Arnold Reuser from the Netherlands. Many of us had 'met' online, so in a way it was a GSDNet conference too! In retrospect, this really helped to cement the development of a Pompe community.
There were a series of remarkable presentations too. Arnold Reuser gave a talk on the latest developments in ERT and was helped in the following Q & A session by Gerben Moolhuizen.
That was obviously exciting. However, the following presentation by YT Chen was a real show-stopper. Yt presented his work involving Japanese quails, an unusual choice of experimental animal, explained by the fact that they have the bird equivalent of Pompe disease.
The affected birds were unable to move their wings, or to right themselves after being turned over. After 3 weeks treatment with enzyme produced in YT's lab (at Duke University USA) one of the birds was able to fly - and was only stopped after it hit a light stand! Analysis showed that their heart and liver had returned to normal and that their skeletal muscle, while still containing some glycogen, showed obvious signs of improvement - and, more to the point, fairly spectacular evidence of recovered function!
It was a remarkable double-whammy for everyone in that room. ERT was being developed - and there were the people developing it, right in front of us, answering questions. Not only that but a researcher had come from the US with dramatic evidence that it would actually work. This work was published in 1998 and the paper - well worth reading - is online. To my continued astonishment it manages to avoid all mention of the pioneering series of papers published by the Rotterdam group that demonstrated that ERT was a runner. I guess this was a sign that things were about to become competitive (the paper acknowledges funding by Synpac). Aside from the fact that the reviewers should have picked the omission up, it was just plain bad form.
However, just like a TV drama, there were twists and turns ahead that we could not conceive of. And speaking of TV, do I get a prize for an article involving Slough that does not mention The Office?
For posterity, I actually have here a copy of the Mayor's speech:
*ASSOCIATION FOR GLYCOGEN STORAGE DISEASE CONFERENCE SUNDAY 25 MAY 1997*
Ladies and Gentlemen
I take great pleasure in welcoming the AGSD(UK) and its corporate sponsor, Pharming BV, to Slough. We are delighted that you have chosen our town for your 13th annual conference.
The past 13 years have seen the organisation grow from a group of just 3 families to one which represents well over 100, taking in all of the different types of glycogen storage disease. During this time you have established yourselves as an organisation which is not only an invaluable source of help to families but also is a source of funding for research into treatments for this condition.
Your organisation is a good example of how problems that are too big for one individual can be tackled by people acting together. That is a philosophy with which the people of Slough can identify.
Slough is a centre for medical science with companies such as celltech, Zeneca, beechams and others based here. In fact, if your sponsor, Pharming, ever wishes to expand their operation to the UK, they could not do better than to come to Slough!
Of course, the most famous factory of all in slough is Mars Confectionery, and I am pleased to hearthat they have donated some of their products to the children attending the conference. I am reliably told that Mars bars are a big improvement on cornstarch!
On a personal note, I should like to take this opportunity to welcome Kevin O'Donnell back to Slough. Kevin and I were colleagues on Slough Council before he left to return to Scotland, so I am particularly pleased that this conference will hear a report on the impressive progress towards a treatment for the Pompe's disease that affected his son Calum.
In conclusion, please accept the good wishes of the people of Slough and our hope that this will be your best conference ever. May you continue to go from strength to strength.
Disclaimer: I don't know half as much about Pompe disease as I like to think I do.
I was active in the patient community from 1993 - 2003 and had the privilege of watching the development of a treatment for Pompe disease at first hand. That is as much of a qualification as I have for writing this.
For posterity, I actually have here a copy of the Mayor's speech:
ReplyDelete*ASSOCIATION FOR GLYCOGEN STORAGE DISEASE CONFERENCE SUNDAY 25 MAY 1997*
Ladies and Gentlemen
I take great pleasure in welcoming the AGSD(UK) and its corporate sponsor,
Pharming BV, to Slough. We are delighted that you have chosen our town for your 13th annual conference.
The past 13 years have seen the organisation grow from a group of just 3 families to one which represents well over 100, taking in all of the different types of glycogen storage disease. During this time you have established yourselves as an organisation which is not only an invaluable source of help to families but also is a source of funding for research into treatments for this condition.
Your organisation is a good example of how problems that are too big for one individual can be tackled by people acting together. That is a philosophy with which the people of Slough can identify.
Slough is a centre for medical science with companies such as celltech, Zeneca, beechams and others based here. In fact, if your sponsor, Pharming, ever wishes to expand their operation to the UK, they could not do better than to come to Slough!
Of course, the most famous factory of all in slough is Mars Confectionery, and I am pleased to hearthat they have donated some of their products to the children attending the conference. I am reliably told that Mars bars are a big improvement on cornstarch!
On a personal note, I should like to take this opportunity to welcome Kevin O'Donnell back to Slough. Kevin and I were colleagues on Slough Council before he left to return to Scotland, so I am particularly pleased that this conference will hear a report on the impressive progress towards a treatment for the Pompe's disease that affected his son Calum.
In conclusion, please accept the good wishes of the people of Slough and our hope that this will be your best conference ever. May you continue to go from strength to strength.
Thank you
Lakhbir Minhas