High-level expertise in Pompe disease
Pompe disease is a severe neuromuscular disorder in which the skeletal, respiratory and cardiac muscles deteriorate. It is a complex disorder that requires specific expertise. The Pompe Center at Erasmus MC in Rotterdam focuses on patients with Pompe disease and is the only center in the Netherlands with this specific expertise. The Pompe Center has been working on Pompe disease research for 40 years, has developed the only available treatment and has been treating patients with this treatment for over 20 years. Meanwhile, to improve the patient's future, the center is also working on improving current treatments and developing new treatments. Within the Pompe Center, the Departments of Pediatrics, Clinical Genetics, Hospital Pharmacy, Internal Medicine and (Pediatric) Neurology work together structurally on scientific research, education and especially patient care. In addition, the Pompe Center works closely with other centers around the world, is member of the European Pompe Consortium (EPOC), the International Pompe Association (IPA) and member of two European Reference Networks (ERN) namely EURO-NMD and MetabERN.
Because of the center's high-quality expertise, the Ministry of Health, Welfare and Sport has designated the Pompe Center as a national center of expertise. All Pompe disease patients in the Netherlands are referred to our center.
Working together = knowledge
The Pompe Center works closely with various parties both nationally and internationally to advance knowledge.
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Together we achieve more
A better future for patients with rare metabolic disorders. This is our main goal. Only the patients themselves can teach us what the main symptoms of the disease are and if the treatment is really effective. That is why we work intensively with patients and patient organizations
Newsletters
Since 2019, Pompe patients and parents can follow the latest developments of the center through the Pompe newsletter. Since the summer of 2023, the Pompe newsletter has merged with the newsletter of The Center for Lysosomal and Metabolic Diseases. Among other things, the newsletter communicates the latest research developments, stories of staff members about their work at the center and communications on upcoming events.
Pompe disease variant database
Pompe disease is caused by an error (mutation) in the hereditary code for alpha-glucosidase. Several mutations in the GAA gene are known, each with its own specific characteristics. The Pompe disease variant database provides an overview of all known mutations. Click on the link below to go to the Pompe disease variant database.
