In Austria, around 400,000 people suffer from rare diseases – around 300 million worldwide. Given this number, overall, rare diseases are not that rare. These include, for example, butterfly, fish scale disease or cystic fibrosis. On the day of these diseases on February 29, the Austrian Society for Dermatology and Venereology (ÖGDV) reports on progress in the transplantation of skin stem cells in the laboratory and on the patient.
The rarest day on the calendar – February 29th – was first consciously chosen as the International Day of these diseases in 2008. With the national plan for rare diseases, the Federal Ministry created the basis for an improvement in this situation for the first time in 2014. The ÖGDV and the university hospitals for dermatology have taken up this plan and are taking care of those affected with rare dermatological diseases, such as e.g. Epidermolysis bullosa (“butterfly children”) and ichthyoses (fish scale disease).
Two special centers in Austria
For this purpose, the Federal Ministry of Health has already designated two expertise centers for so-called genodermatoses, which are genetically determined, rare skin diseases: the University Hospital Salzburg with the focus on butterfly children and the University Hospital Innsbruck with the focus on fish scale disease. “This makes dermatology one of the currently leading specialties in Austria for the treatment of patients with rare diseases,” reports Johann Bauer, Director of Dermatology at the Salzburg University Clinic and Vice President of the ÖGDV.
Both centers, both Salzburg and Innsbruck, report successful progress in the transplantation of skin stem cells in the laboratory and on the patient. In 2016 Bauer participated in the skin transplantation of a seriously ill butterfly child together with colleagues from Germany and Italy. At that time, 80 percent of the skin surface of a seven-year-old was treated with genetically corrected skin. After four years, this risky procedure can be classified as a success. The boy can lead a normal life. His skin is functionally and structurally almost healed.
“Most rare diseases are chronic, some are life-threatening. But there are causal therapies for more and more diseases. The sooner such targeted treatment can begin, the sooner the course of the disease can be stopped or at least slowed down,” said Sylvia Nanz, Medical Director at Pfizer Austria. One of the most recent research successes from the Pfizer laboratories benefits young women suffering from sporadic lymphangioleiomyomatosis (S-LAM). S-LAM is a genetic, rare lung disease that destroys lung tissue. Around 40 women in Austria are affected. These patients have to live with the fact that their breath is getting scarcer. Now a treatment option offers a chance to stabilize lung function.
Organization of the “Pro Rare” Austria
“Pro Rare”, the Austrian Alliance for Rare Diseases, is holding a public event in Vienna’s Museumsquartier on February 29th. As part of the event, “best practice” examples will be presented, which show how challenges in everyday life with a rare illness can be overcome. The first self-help-friendly cystic fibrosis center will be presented, the MPS therapy weeks (mucopolysaccharidosis is a rare metabolic disorder, note), a residential project for people with special needs. (APA)
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