According to a story from governmenteuropa.eu, Professor Susanne Kircher, who is associated with the Austrian MPS Society and the Medical University of Vienna, writes about the state of rare diseases in Austria and the EU and most specifically touches on mucopolysaccharidosis (MPS), which is a group of lysosomal storage disorders. These disorders affect thousands around the world and many of them lack disease modifying treatments.
About Mucopolysaccharidosis (MPS)
Mucopolysaccharidosis comprises a total of seven distinct genetic disorders, which can be further divided into different variants. These disorders are characterized by the absence of a critical lysosomal enzyme that is necessary to facilitate the break down of certain long chain molecules called glycosaminoglycans (GAGs). Generally, patients either do not produce a sufficient concentration of the enzyme or they produced a flawed version that does not function properly. The different forms of mucopolysaccharidosis are defined by which enzyme is affected. These disorders are all the result of inherited mutations that are usually passed down in an autosomal recessive manner. These disorders can vary in severity but in many cases they can be debilitating and sometimes fatal. Symptoms can result in profound impacts on many of the body’s systems and internal organs. Treatments for these disorders (when available) may include stem cell transplant or enzyme replacement therapy. Gene therapies could be a potential future treatment for these disorders. To learn more about mucopolysaccharidosis, click here.
MPS Advocacy in Europe
The origins of MPS advocacy groups in Europe can be traced back nearly 30 years. The group MPS Europe GmbH was officially formed in 2016 as a continent-wide group resulting from the collaborations of 12 national organizations. Austria and Germany were the first to establish MPS societies in Central Europe. These patients continue to face challenges common to many rare diseases, such as delays in diagnosis and treatment access. There are major disparities between countries in what treatments are available and how practically they can be used by patients.
There are now international patient registries for nearly all forms of MPS. However, many of them were first started by drug companies and as a result it can be difficult for independent researchers to access the valuable data that has been gathered from them.
Mucopolysaccharidosis represents about one to every 5,000-8,000 cases of genetically linked rare diseases overall. Rare disease organizations such as ProRareAustria have gotten behind the National Action Plan for Rare Disease, the ultimate goal of which is to demonstrate the structural and social challenges that rare diseases pose, as well as more disease-specific information, to policymakers.
Overall, the MPS community is Austria is strong, but there is still work to be done both there and throughout the EU, particularly in countries that lack rare disease resources. Ultimately, further sharing of information, research, and other resources will be essential for continued success in the region.
