The Eva Luise Köhler Research Award has been granted annually since 2008 to promote research into rare diseases. The awarded money of €50,000 each has already enabled more than a dozen innovative research projects to be launched. Journalist Sandra Arens asked the first award winners, Prof. Dr. Volkmar Gieselmann and Prof. Dr. Hans-Joachim Galla, how their research on lysosomal storage disorders has developed since they received the award in 2008.
Lysosomal storage diseases - this abstract term conceals thousands of fates. The symptoms are severe, and the prognosis is extremely poor: most patients die in childhood.
Lysosomal storage disease is a collective term for around 70 metabolic diseases - for example Gaucher's disease, Hunter's disease or metachromatic leukodystrophy. Most of these diseases severely damage the nervous system and other organs. Approximately one in about 8,000 newborns is affected. The cause of the severe disorders is a lack of enzymes in the so-called lysosome. Lysosomes perform a kind of garbage disposal function in our body, using enzymes to break down and recycle our "cellular waste" - for example, old proteins. If the enzymes are missing, the superfluous components are stored.
Many of the enzymes that are missing in lysosomal storage disease can be produced artificially and can be injected into the vein of patients. However, it is difficult to get them out of the blood and into the defective brain cells because of the blood-brain barrier, which protects the brain from harmful substances. The artificial enzymes have difficulty getting past it. But how could it be done? Prof. Volkmar Gieselmann from the University of Bonn and Prof. Hans-Joachim Galla from the University of Münster have been working on this for years. They used the award money from the Eva Luise Köhler Research Award to drive forward research into the blood-brain barrier. Their goal: to understand the transport pathways even better and to modify enzymes so that they can cross the blood-brain barrier after all. The researchers focused on the enzyme arylsulfatase A, which is missing in metachromatic leukodystrophy.
In recent years of research, scientists have been able to produce a specifically modified arylsulfatase A: This artificial "turbo enzyme" not only reaches the brain better, it is above all more active and stable. In animal experiments, this enzyme showed a significantly improved effect. There is now a patent on this new therapeutic option for metachromatic leukodystrophy. The next step is to make it available to patients. This will require cooperation with industry. Prof. Volkmar Gieselmann, MD: "We are in contact with biotech companies and hope to make rapid progress in order to finally be able to save patients from their difficult fate."
