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Welkom op de website van het Pompe Center

Deze website is bedoeld om informatie te geven aan patienten, collega wetenschappers/ - artsen,
genetic counsellors en anderen met een speciale interesse voor de ziekte van Pompe.

This website is used as a public tool to communicate information to patients, colleague-scientists/clinicians, genetic counsellors and others with special interest in Pompe disease.  

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Last weekend the movie “Extraordinary measures” starring Harrison Ford, Brendan Fraser and Keri Russell was released in the US. It is based on the book by Geeta Anand: “The Cure: How a Father Raised $100 Million and Bucked the Medical Establishment in a Quest to Save His Children” and tells the moving story of a family affected by Pompe disease and their determination to find a cure.

 

As a national and international expert center on Pompe disease, we hope that this movie will increase general awareness of the disease, the problems faced by affected families, and the necessity of research into rare and often ‘neglected’ disorders.

 

“Extraordinary measures” is inspired by the story of a real-life family. The full story of the development of a treatment for Pompe disease is however far more complex than depicted in the movie. It covered more than three decades and involved many patients, families, physicians, researchers and companies from all over the globe.

 

At Erasmus MC University Medical Center Rotterdam the route to treatment of Pompe disease started in the 70s. It was highlighted by demonstrating the feasibility of enzyme replacement therapy, by cloning the acid alpha-glucosidase gene, by making the first mouse model of Pompe disease, by production of alpha-glucosidase in CHO cells and milk of transgenic animals, and has culminated in the start of clinical trials. The first clinical trial worldwide including 4 babies with the disease took place at Erasmus MC- Sophia Children’s Hospital in 1999.

 

As a team we are proud of the contributions we could make and like to acknowledge the great efforts of patient associations, colleague scientists and industrial parties in the path towards treatment for Pompe disease.

 

More information on the series of events that led to the development of a treatment for Pompe disease can be found on this website, on the website of the International Pompe Association (IPA) , on the blog by IPA founding member Kevin O’Donnell and on the Genzyme website.