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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Thursday 21 January 2010

The Fate of the Transgenic Patients - Tiffany House

The Fate of the Transgenic Patients . . .

After Novazyme and Genzyme merged and Pharming went into receivership there was one looming question on the minds of those of us involved in the transgenic trials: what was going to happen to the patients?

As Kevin has already mentioned, when the decision was made to pursue the CHO method in lieu of the transgenic, the patients and the patient organizations were assured that treatment for the transgenic patients would continue until they could be transitioned to the CHO product–or indefinitely if transition was impossible.

However, shortly after Pharming went into receivership in August 2001 this tune changed. Instead, we were told that the transgenic patients were Pharming’s responsibility—NOT Genzyme’s. As you can imagine, this declaration was met with opposition from the international patient community and from the “team” in the Netherlands.**

The international Pompe community banded together and stood up to Genzyme. We said that this was not acceptable, and we held them accountable. At the end of the day (and after many “conversations”), Genzyme stepped up to the plate and accepted that the transgenic patients were their responsibility. BUT, there were still more “battles” to come.

While Genzyme agreed to continue treating the transgenic patients by transitioning them to CHO (the offer of indefinite treatment if transition from the transgenic enzyme was impossible was now off the table), they declared that the Duke product was more effective than the transgenic, and the doses of these patients was to be reduced to 5/mg/kg/week. To put this into perspective, at that time the patients in the transgenic infantile trial were receiving 40mg/kg/week and those in the juvenile trial were receiving 20/mg/kg/week. Ultimately, after many discussions, the transition

I can’t speak to all that was said behind closed doors during this time. What I can say is there was a genuine concern regarding the transition and how patients would do. The team in the Netherlands wanted more information to make sure it was safe to transition their patients. But, the ability to wait for this information was taken out of their hands by upcoming events . . .

The transgenic method of production had been foregone in favor of the CHO method of production, so the production of the transgenic product ceased (and the fate of rabbit herd remains a mystery). That meant that there was a limited amount of supply left. The transition could only be delayed for as long as the supply held out. Then things got more complicated: a decision was made by the Pompe Leadership Team at Genzyme to begin using a new brand of vials, and the vials started to break. The breaking vials meant that the need to transition was sped up. There was no more time to make sure the transition would be smooth and not have adverse consequences for the patients.

By summer of 2003 most of the transgenic patients had been, or were in the process of, transitioning to the Duke product. The next hurdle that had to be faced was the dose. Within 6 months it was clear that the lower dose was not effective–patients were deteriorating where as before they had been improving. After many conversations Genzyme finally agreed to increase the dose (a further increase was later agreed to) and by summer 2004 the transgenic patients were once again receiving the same dose they had received while on transgenic (see my story on the Patients page of the AMDA website for an account of how I deteriorated during this time).

Unfortunately, by that time severe damage had been done to some patients. I personally remember seeing and talking to one of the patients in the original infantile trial. After a year and a half on treatment this patient was able to be off of the ventilator for several hours a day and could move her arms a little. These were drastic improvements. When the dust had settled after the transition, she was no longer able to be off of the ventilator and her condition had drastically declined. I can’t help but wonder what her life would be like today if her dose had not been reduced.


**I say “team” because if you ever talk to Drs. van der Ploeg or Reuser they will never take credit for the things they have accomplished—instead, they say it was the “team” that did it. This is, to me, just one of many of the examples of what drives them and their work. For the Dutch “team” it is not about notoriety or recognition. They have spent decades researching and working on Pompe for the sake of science. But, more importantly, for the sake of the patients the science will help.

1 comment:

  1. Thank you for sharing your very valuable views Tiffany. It is a shame the both methods of production were not kept working on. Time has demostrated that it would have been the less risky option both from the point of view of patients and producers. Perhaps it could have meant bigger spenses but also bigger profits and a secured production. And it would have been probably cheaper than spending 115 million dollars in buying Novazyme.

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