Researchers develop therapy to treat the rare skin disease ichthyosis

In the fight against common diseases such as cancer the strategy is clear: scientists are working flat out on research, methods of early detection and treatments. That the demand is enormous is not surprising: according to the Federal Statistics Office, around 26 percent of all deaths in Germany in 2011 were due to cancer. So it is no wonder that patients, researchers and pharmaceutical companies want to see effective drugs developed fast.

But what is the situation with drugs to treat diseases which affect only a few people? “These drugs are often neglected by pharmaceutical companies because they are economically unattractive,” says Dr. Karin Aufenvenne, a biologist, who personally experienced the problem over the past few years. Around one year ago she and Prof. Heiko Traupe, senior physician for dermatology at the skin clinic at Münster University Hospital, achieved a breakthrough in treating a special form of ichthyosis with medication. This highly unpleasant skin disease, often known as fish-scale disease, is caused by genetic defects and occurs directly after birth. Patients suffer from an extreme thickening of the top layer of the skin, which manifests itself in a dark brown, lamellar desquamation covering the entire body. “Around 2,500 people in Europe are estimated to have the disease – which means it is ultra-rare,” says Karin Aufenvenne.

For this reason no pharmaceutical company could be found which was prepared to progress and – above all – market the therapy developed at Münster University (WWU) in close cooperation with the working group headed by Dr. Margitta Dathe at the Leibniz Institute of Molecular Pharmacology (FMP) in Berlin. This situation could, however, change shortly. The reason is that the medication was recently awarded orphan drug status by the European Union – an unprecedented event at WWU and FMP. With the official EU designation as a “drug to treat rare afflictions”, it becomes more economically attractive. “Pharmaceutical companies that buy the rights to such a drug do not have to pay any approval costs, for example,” explains Karin Aufenvenne. “And after regulatory approval they have exclusive rights to the drug for ten years.” In Münster there is a strong desire to find a company attracted by these incentives. “The distress felt by patients who have this disease is enormous – not only due to the physical symptoms, but also because of the mental suffering.”

Get up, have a shower, get dressed and off to work: what for many of us is normal daily life is just not possible for people suffering from ichthyosis. The hornification develops anew every day, which is why those affected with the disease have to bathe thoroughly at least once a day and remove the scales from their body, for example with a pumice stone. To protect the sensitive skin from drying out, patients have to apply a lotion to their whole body several times a day. “Personal hygiene plays a heightened role,” says Karin Aufenvenne, “as the sensitive skin can easily become inflamed, especially in childhood.”
“As a result of the genetic defect,” she explains, “there is an enzyme missing in the body – transglutaminase 1. In the case of healthy people this enzyme acts in the top skin layers. However, if it is missing the natural protective function of the skin is disturbed and the skin loses much more water – which is why scales form over large areas. The substance that we have developed penetrates the skin cells from the outside so that the enzyme can act there.” One of the ways in which the positive effect is shown is through the reduction in the loss of water through the skin. “But the optical effect is also noticeable: the skin normalises itself.”

For people who suffer from ichthyosis, the designation of the therapy developed in Münster as a drug to treat rare afflictions is a ray of hope. The researchers had admittedly already contacted pharmaceutical companies, but as a result of the EU’s designation the situation has improved significantly. There are currently two companies showing a strong interest and negotiations are underway. The Münster scientists are being supported by Clinic Invent, the patents office at the Faculty of Medicine.

Background information: orphan drugs

The term “orphan drug” was first used in 1983 to describe drugs to treat rare diseases. The status of a “drug to treat rare afflictions” is awarded by the EU only if there are fewer than 230,000 patients per year or fewer than five patients for every 10,000 people. Applications are examined by the Committee on Medicines to Treat Rare Diseases, within the European Medicines Agency. If the Committee gives an appropriate recommendation, the EU decides on whether the medicine receives the orphan drug status.