Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Researchers develop therapy to treat the rare skin disease ichthyosis

24.06.2013
Drug is ready – but hard to launch: Münster University physicians develop therapy to treat ichthyosis ("fish-scale disease") / No pharmaceutical company found to progress and to market the drug

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.

Dr. Christina Heimken | idw
Further information:
http://www.uni-muenster.de/

More articles from Health and Medicine:

nachricht Why might reading make myopic?
18.07.2018 | Universitätsklinikum Tübingen

nachricht Unique brain 'fingerprint' can predict drug effectiveness
11.07.2018 | McGill University

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: First evidence on the source of extragalactic particles

For the first time ever, scientists have determined the cosmic origin of highest-energy neutrinos. A research group led by IceCube scientist Elisa Resconi, spokesperson of the Collaborative Research Center SFB1258 at the Technical University of Munich (TUM), provides an important piece of evidence that the particles detected by the IceCube neutrino telescope at the South Pole originate from a galaxy four billion light-years away from Earth.

To rule out other origins with certainty, the team led by neutrino physicist Elisa Resconi from the Technical University of Munich and multi-wavelength...

Im Focus: Magnetic vortices: Two independent magnetic skyrmion phases discovered in a single material

For the first time a team of researchers have discovered two different phases of magnetic skyrmions in a single material. Physicists of the Technical Universities of Munich and Dresden and the University of Cologne can now better study and understand the properties of these magnetic structures, which are important for both basic research and applications.

Whirlpools are an everyday experience in a bath tub: When the water is drained a circular vortex is formed. Typically, such whirls are rather stable. Similar...

Im Focus: Breaking the bond: To take part or not?

Physicists working with Roland Wester at the University of Innsbruck have investigated if and how chemical reactions can be influenced by targeted vibrational excitation of the reactants. They were able to demonstrate that excitation with a laser beam does not affect the efficiency of a chemical exchange reaction and that the excited molecular group acts only as a spectator in the reaction.

A frequently used reaction in organic chemistry is nucleophilic substitution. It plays, for example, an important role in in the synthesis of new chemical...

Im Focus: New 2D Spectroscopy Methods

Optical spectroscopy allows investigating the energy structure and dynamic properties of complex quantum systems. Researchers from the University of Würzburg present two new approaches of coherent two-dimensional spectroscopy.

"Put an excitation into the system and observe how it evolves." According to physicist Professor Tobias Brixner, this is the credo of optical spectroscopy....

Im Focus: Chemical reactions in the light of ultrashort X-ray pulses from free-electron lasers

Ultra-short, high-intensity X-ray flashes open the door to the foundations of chemical reactions. Free-electron lasers generate these kinds of pulses, but there is a catch: the pulses vary in duration and energy. An international research team has now presented a solution: Using a ring of 16 detectors and a circularly polarized laser beam, they can determine both factors with attosecond accuracy.

Free-electron lasers (FELs) generate extremely short and intense X-ray flashes. Researchers can use these flashes to resolve structures with diameters on the...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Leading experts in Diabetes, Metabolism and Biomedical Engineering discuss Precision Medicine

13.07.2018 | Event News

Conference on Laser Polishing – LaP: Fine Tuning for Surfaces

12.07.2018 | Event News

11th European Wood-based Panel Symposium 2018: Meeting point for the wood-based materials industry

03.07.2018 | Event News

 
Latest News

Machine-learning predicted a superhard and high-energy-density tungsten nitride

18.07.2018 | Materials Sciences

NYSCF researchers develop novel bioengineering technique for personalized bone grafts

18.07.2018 | Life Sciences

Why might reading make myopic?

18.07.2018 | Health and Medicine

VideoLinks
Science & Research
Overview of more VideoLinks >>>