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.

Search This Blog

Saturday, 16 January 2010

AMDA Patient Conference 28-30 September 2001

The AMDA had organised some pioneering scientiifc conferences, as desribed earlier. However their first patient conference was held on 28-30 September, 2001.  That link leads to a good summary of it, including photos, so I won't repeat that here.

I'll get to the conference itself in a moment, however before doing so I need to recount a bizarre incident from the run-up to it: on 24 September, Genzyme/Novazyme tried to cancel the AMDA's conference. Why exactly did a pharmaceutical company think that it was within their remit to cancel a conference organised by a patient group? Well, here's what they posted to GSDNet, via Novazyme staffer Julie Smith:

The tragic events of the last two weeks have had a profound impact on us all. Its repercussions have been felt worldwide and now it has affected a Pompe meeting that we had all very much looked forward to.

As you all know, the AMDA has announced that the scientific portion of the Pompe conference has been cancelled. There are still plans for an abbreviated patient meeting in Texas to go forward on September 29th.

In view of current events, we think that the AMDA decision to cancel the scientific meeting is wise. The AMDA’s decision mirrors Genzyme’s own internal concerns as evidenced by the strict travel guidelines that substantially limit travel to all except the most urgent situations and only for limited numbers of Genzyme employees. We likewise, however, understand the patient community's desire to come together and to not let these unsettling times delay such an event. Still, as the sole sponsors of the Pompe patient meeting, we at Novazyme and Genzyme do not think that it is prudent for this meeting to go forward as originally planned. There are three key reasons for this view:

1) Safety: We have full confidence in our nation's ability to provide for our national defense and ensure our security. Nonetheless, in the next several weeks as a U.S. retaliatory strike inevitably begins, we believe that the most secure places for patients, physicians, researchers and our employees will be in our own homes and communities.

2) A number of key physicians and researchers have already confirmed that they will not attend including Drs. Reuser, Kishnani, Slonim, Byrne, Tift, Canfield, Nicolino, among others.

3) A number of patients and their families (as well as physicians) have already cancelled their travel plans in view of the AMDA's initial decision to cancel the entire meeting.

We are firmly committed to building our relationship with all Pompe patients, physicians and their families and to keeping an open line of communication. There are two steps we propose to build on this commitment.

1) Initiate a series of patient “Town Hall” meetings across the U.S. and in Europe this fall as circumstances change and travel becomes less restricted in order to promote an exchange of current information and issues.
2) Organize a scientific symposium in early 2002 in coordination with the International Pompe Association and a well-recognized academic institution, such as the U.S. National Institutes of Health.

Also, for those of you who decide not to attend this weekend's conference and who have non-refundable airline tickets, Genzyme will reimburse the non-refundable portion to you. Be safe and God Bless you and your families.

John F. Crowley Jan van Heek
President & CEO Novazyme Pharmaceuticals Executive VP, Genzyme Corp.

My first reaction was "What the...?".The 'tragic events' referred to were, of course, the terrorist atrocities of September 11. These were, to say the least, unsettling. However air travel has returned to normal and, as far as I knew from my discussions with Marylyn House, the AMDA conference was still very much on.  So I was surprised but the thought never occurred to me for a moment that the Genzyme/Novazyme statement was made without the support of the AMDA - let alone that it contained some outright falsehoods. I was rapidly brought up to speed by Marylyn and made the following response:

Here are three key reasons why I think the Novazyme/Genzyme view is wrong:

1) This is a conference of the AMDA - a patient group. It is absolutely not the business of the pharmaceutical industry to go around cancelling patient conferences because it doesn't suit them. The AGSD(UK) conference is next month - is that also to be cancelled if it doesn't suit the companies?

2) There will still be significant scientific input, alongside the patient contributions.

3) I am by no means convinced that San Antonio is likely to be a hotspot of military or terrorist activity in the event of the ground war starting this week.

I can't emphasise enough how disturbing I find this. My first assumption was that the Novazyme/Genzyme email had been issued with the full co-operation of the AMDA. I now understand that this is not the case. The idea that the patient organisations can have their activities dictated by the companies is one that needs to be nipped in the bud right now.

For my own part, I will be travelling to Texas to attend the meeting, as long as the AMDA is holding it.

It quickly became apparent that this was the consensus view.  Not only that, it appeared that the scientific speakers (The Netherlands, Germany and Australia as well as the US) were all still intending to attend.  So why on earth did Genzyme think that they could curtail the activities of patients in this way?

The charitable explanation is that Genzyme were sensitized following the loss of a key member of staff on 11 September. Lisa Raines had been VP  in charge of government relations at Genzyme and had been on the plane which was used to attack the Pentagon. People were undoubtedly - and understandably - upset at the loss of a friend and colleague in such circumstances. If so though, why not just say so?

However, there is also a less charitable explanation. Randall and Marylyn House's daughter, Tiffany, had been part of the juvenile trail carried out at Rotterdam (following anonymous selection). This undoubtedly led to them taking a robust position on the continuance of provision of the Pharming enzyme to those who had taken part in the trials of it. That certainly didn't suit Genzyme. Was this seen as a chance to reduce the influence of the Houses?

There is also an even less charitable explanation. A press release from Genzyme on 27 September announcing the completion of their acquisition of Novazyme revealed that John Crowley was now in overall charge of the Pompe project. Did he see this as an opportunity to stick one to the Houses? It's an ungracious thought, I admit and there is absolutely no mention of this period at all in The Cure, so no corroborating evidence there. In fact, the only mention of patient groups in that book at all is of  John's introduction of people from his own Children's Pompe Foundation creation to Genzyme staff. In retrospect, perhaps an indication that he would have difficulty in separating the personal from the professional. Did that difficulty extend to grudges too, I wonder?

Whatever the reasons, Genzyme tried make a mistake that would have been on a par with their buy-out of Novazyme (albeit less expensive). Yep, that bad. Fortunately, they were faced down by the patient community. With hindsight, this assertion of patient independence was a pivotal moment.

Oh, and Genzyme and Novazyme did come to the conference in the end, along with everyone else.

1 comment:

  1. Of course, I do not know about the real reasons behind the intentions of Genzyme/Novazyme when trying to postpone that meeting. Maybe their concerns about the unstability following S-11 were sincere, maybe not. In any case, sincere or not, their decision about publishing such a statement just looks plainly irrational to me, specially taking into account that it comes from a Biotech company. I know this does not seem to be really important in the history of Pompe disease, but what really strikes me is how bizarre that statement was. Hypothesizing about fairly unrealistic war retailiations in a statement regarding a scientific meeting.. it just looks so strange to me. And ending the statment with a "God Bless You"... I am sorry, but in my humble opinion that kind of language just does not fit when in comes to a statement coming from a scientific institution. It is just my opinion, but the person who wrote that statement has probably had better days. Not a very smart decision on the side of Genzyme to publish such a thing... another dumb choice, althouh probably nothing if compared to spending a hughe amount of money in a product that did not work.