Both his children, Megan and Patrick and I finally received our treatment on time. The opportunity to receive treatment was a gift of life. I told my physician, Dr. Ans van der Ploeg that I wanted to contribute to the knowledge of enzyme replacement therapy like the other patients were doing in the clinical trial. A muscle biopsy was taken and all neurological, lung and blood tests were done. These outcomes were also used in the data gathering to get approval for enzyme replacement therapy at the regulatory authorities. It was good to see that also other patients were able to start treatment. It was a time in which Anton and I regularly drank German Sekt to celebrate the start of treatment from a friend somewhere in the world.
Through the contacts with patients world wide, the IPA learned that it was important to inform Pompe patients about the issues involved in Pompe disease such as breathing problems, common health problems, exercises and physical therapy, pregnancy, genetics, medical developments etc. We felt that people should know how to stay in a as good physical condition as possible. Especially regarding the breathing problems that can occur we felt Pompe patients should know how to treat it and what to do and especially what not to do, like for example using oxygen or using a C-pap. To inform as many Pompe patients as possible, The Pompe Connections were written and reviewed by medical experts from several countries. Later it was translated in several languages such as Japanese, Turkish, German, Spanish, French and Dutch.
Later I heard that people around the world were very happy with this information, especially when it was in their own language. It was a tremendous task, but absolutely worth all the energy and effort.
In November 2003, the International Pompe Association organised an international conference in Heidelberg, Germany. Scientists, physicians, patients and industry were present and shared the latest information on research. It was at that conference a mystery was solved. The mystery of the ‘Holy Grail’, the treatment Novazyme had been working on, but that suddenly disappeared. This statement of ‘Holy Grail’ is not mine, but Novazyme used this terminology in one of their press releases.
In answer to a question, Dr. William Canfield told everyone at the conference that during a test with muscle cells stored with glycogen in a Petri dish where they added the ERT of Novazyme, a huge mistake was made. At first it was claimed that the Novazyme treatment was working so well that in just a couple of minutes the glycogen in these muscle cells was decreased to almost zero. Based partly on this result the Pharming ERT was wiped from the Pompe development program, as according to the results of that famous test it was the most inefficient treatment. Later it was admitted that the Pharming ERT should have been tested in vivo (experimentation using a whole, living organism as opposed to a partial or dead organism, or an in vitro controlled environment) as it would have been more fair and probably would have revealed that it was more effective in vivo than in vitro (experimentation done in live isolated cells). Genzyme was presented the great results of Novazyme and convinced that the treatment Novazyme was developing was indeed very promising.
Genzyme bought Novazyme in 2001, the company of John Crowley, for millions of dollars. John Crowley was offered the position of senior vice president at Genzyme Therapeutics after the sale. The take over from Novazyme by Genzyme was investigated thoroughly by the Federal Trade Commission. While this investigation was still going on, it became clear that the Novazyme treatment wasn’t promising at all, but that its results were based of a mistake. While doing the test, the in vitro muscle cells weren’t fixed, so when the Novazyme treatment was added, the glycogen simply was washed away. In such a situation even plain water would have been able to remove the glycogen from muscle cells.