Patient associations
A better future for patients with rare metabolic disorders. This is our main goal and to reach this goal The Center for Lysosomal and Metabolic Diseases works closely with patient associations. After all, only patients themselves can teach us what the main symptoms of the disease are and how a treatment works. The input of patients is therefore essential. In cooperation with patients and patient associations such as the VSN, VKS and IPA, we organize patient councils and work together on research.
Collaborations
Below you can find an overview of all the patient assocations we work with. For more information, please click on the patient association and you will be directed to their website.
Association for adults and children with an inherited metabolic disorder (VKS)
This patient association is founded for all patients with a metablic disorder and stands up for the patient's interests. VKS offers the opportunity to get in touch with other patients and their family members, and you can find information and the latest news about various metabolic diseases on their website.
www.stofwisselingsziekten.nl (Dutch only)
The Dutch Neuromuscular Disease Association
The Dutch Neuromuscular Disease Association is devoted to promote research on neuromuscular disorders. Patients can meet each other in the so-called Myocafé. On this online platform patients and family members can share experiences with each other.
www.spierziekten.nl (Dutch only)
Dutch Phenylketonuria Association (NPKUV)
The Dutch PKU association was founded for PKU patients and their families who want to know more about the disorder. The association promotes contact between patients and provides information about the disease. On the website you will find all information about PKU and the activities of the association.
www.pkuvereniging.nl (Dutch only)
Porphyria Association (PVAP) for Dutch patients with Acute Porphyria
The Porphyria Association (PVAP) is founded by and for Dutch patients with Acute Porphyria.
The PVAP is a national patient association for patients, family members, care givers and other stakeholders.
https://www.pvap.nl/
Patient association for patients with Erythropoietic protoporphyria
One of the goals of the Dutch patient association for patients with erythropoietic protoporphyria is to create more awareness for EPP. The associations stimulates research on the cause and treatment of EPP and strives to establish and maintain contact with EPP patients and their family members. This is mainly done by organizing meetings and sending out newsletters.
https://epp.info/ (Dutch only)
IPA Erasmus MC Survey
An important example of a research project together with patients is the IPA Erasmus MC Survey. This survey has been active since 2002 before the treatment for Pompe disease became available. More than 400 patients from 11 countries contribute to the survey: America, Canada, Australia, New Zealand, the Netherlands, Belgium, Germany, England, France, Switzerland and Italy.
The survey teaches us a lot about the natural course of the disease, the main consequences of the disease for patients and it teaches us about the effects of treatment with enzyme replacement therapy in regards to survival, degree of disability and quality of life. It is an important example of how patients and physicians can work together to better understand their disease and develop a treatment.