In recognition of International Pompe Day, the VSN (Vereniging Spierziekten Nederland, www.vsn.nl) is hosting a series of workshops on April 15th, 2015 at Erasmus University for its members. There will be six workshops available, and people will be able to attend two of them. The workshop topics will be:
Development of the current enzyme replacement therapy for Pompe disease: A Historical Overview
Arnold Reuser will outline how the current Myozyme was originally developed in the laboratory and eventually brought to the clinic. Arnold Reuser was involved in the development of the current therapy from the very beginning.
Diagnosis of Pompe disease: New Molecular Insights into Effects on acid alpha-glucosidase
How is the diagnosis of Pompe disease determined. New methods that allow previously “hidden” mutations to be found
What causes differences in disease progression?
It is still unclear why some patients become ill at a young age and others later in life. Even within families there are differences between siblings with Pompe disease that are not yet understood. This workshop examines the causes of these differences.
What is wrong with the muscles in Pompe disease?
Why does glycogen lead to muscle damage? To answer this question requires examining muscle biopsies to look at what goes wrong within Pompe patient muscles. Various parts of the muscle can be tinted in the laboratory and may be viewed through a microscope. This allows us to understand what processes are disrupted.
Turning Skin Cells into Stem Cells into Muscle Cells: The Patient in a Culture Dish
It seems to be science fiction, but it is reality–using a Nobel Prize-worthy method it is now possible to turn a skin biopsy into stem cells. These stem cells can then be converted to muscle cells. This process can be performed for individual patients and represents an important step towards the development of new treatment options.
Development of Gene Therapy for Pompe disease
Pompe disease is caused by a mutation in a patient’s genetic material. In gene therapy, this mutation is restored. In the laboratory, various methods are being developed for gene therapy for Pompe disease. In particular, the therapy using a bone marrow transplant is highly developed and very promising.