When their son Sebastian turns from a lively three-year-old to a cramp-ridden, apathetic bundle of humanity within a few weeks in the spring of 2006, the Bopps have no idea that the boy is the world's first known case of a genetic defect that prevents the brain from being supplied with the vital vitamin B9 (also known as folate). While Sebastian begins an odyssey through special clinics, his sister, who is two years younger, soon develops similar symptoms. She too suffers from cerebral folate transport deficiency (CFTD), as the newly discovered disease will be named in 2009.
CFTD is one of about 8000 rare diseases. In the EU, these include all diseases that affect a maximum of five in 10,000 people. The vast majority of these diseases are genetic - there is a cure or at least a therapeutic approach for only a very small number of them. And if there is, it is usually preceded by decades of research. Statistically, Sebastian and his sister have little chance of surviving.
But the Bopps don't give much to statistics. They are fighting for the lives of their children, with the courage of despair. Together with the physician who diagnosed Sebastian with CFTD, Gabriela Bopp, who holds a doctorate in chemistry, is tinkering with a way to transport the folate into her children's brains. First orally, then intravenously, and finally via a depot just under the skullcap. "This was a therapy far beyond what was known at the time," says her husband, Robert. "We tried this knowing that even if we might not be able to save Sebastian, at least we were helping our daughter."
One path that repeatedly results in success stories is the use of drugs that are already approved for other diseases. This so-called "drug repurposing" can significantly accelerate the discovery of therapies for rare diseases: "Then you no longer need all the safety and tolerability studies. These have already been done as part of the approval process for another disease," says Gärtner.
Diese Doppelnutzbarkeit funktioniere aber auch in die andere Richtung: „Die Forschung an seltenen Krankheiten ist nicht isoliert. Es gibt viele Verbindungen zu Volkskrankheiten."
