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The 2nd International Pompe Day was organised in the Netherlands by the Dutch Neuromuscular Disease Association in conjunction with the Centre for Lysosomal and Metabolic Diseases. The goal of the day was to provide insight in the latest developments of the several research areas and to give people the opportunity to have a look behind 'the curtain' of the laboratory. Another aim was to allow researchers and patients and their families to meet each other.
In the morning short presentations were given by Ria Broekgaarden (Dutch Neuromuscular Disease Association), Prof. Dr. Ans van der Ploeg, Prof. Dr. Pieter van Doorn and Dr. Pim Pijnappel. They provided from their perspective an insight in the newest developments in Pompe research in the Erasmus MC. It was pinpointed how important continious innovation is and that it goes with little steps.
In the afternoon 6 groups of patients and their family members visited the laboratory of the Centre. Several aspects of research were showed and demonstrated by PhD students and researchers. The topics were:
- Development of current enzyme replacement therapy for Pompe disease: A historical overview
- Diagnosis of Pompe disease: New molecular insights
- Why are there differences between patients regarding disease development?
- What happens in the muscles in patients with Pompe disease?
- Stem cells: How to make muscle cells from normal skin cells?
- The development of gene therapy in Pompe disease
The workshops were very interesting and everyone could ask questions and sometimes even experiment themselves.
No one could of course provide any guarantee if the outcome of this research would be positive and become available. But fact is that much is done to improve the lives of people with Pompe disease.
At the end of the afternoon Prof. Dr. Ans van der Ploeg and Dr. Pim Pijnappel answered the various questions of participants.
The 2nd International Pompe Day was a success. It was very positive for all of us to get in contact with physicians and students and to be able to ask questions and exchange ideas.
Researcher and patient working together on an experiment.
Enjoying lunch and cathing up. Researchers and patients meet.
International Pompe Day has been celebrated in Poland for the second time. This year the Pompe Garden was opened at the campus of the Medical University of Warsaw Ochota.
The Pompe Garden has been created with rare plants to raise awareness on Pompe Disease. With the Pompe Garden the Rare Disease Organisation in Poland hopes to raise awareness on Pompe Disease and to break the social isolation of many people with Pompe Disease. The Chairman of the Pompe Association and initiator of this project, Maciej Ptasinski said: I belief this Garden will become a place to meet, to talk and to discuss issues.
The Pompe Garden hasn't been finalised yet. The initiators want this Garden to become a joint ongoing project from patients and citizens of Warsaw.
Pompe Disease is one of over 6,000 known rare diseases and the only disease in the group of neuromuscular diseases that can be treated. It is caused by a lack of the enzyme alpha glucosidase that normally breaks down glycogen in the muscles. The accumulation of glycogen in Pompe Disease causes a progressive muscle weakness in respiratory and skeletal muscles.
Please watch the video of the Opening of the Pompe Garden
The Opening of the Pompe Garden at Warsaw Medical University
The Rector of the Warsaw Medical University participates in the Opening
The planting of rare plants representing Pompe Disease
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.