Project offers new hope to the ‘butterfly children’

Children who suffer from a rare and debilitating skin disease look set to benefit from a new type of therapy that will ease their suffering, thanks to an ERDF-funded project which brought together Austrian and Italian researchers.

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" The results of the project are invaluable for EB patients, as a permanent therapy is within their grasp. All doors have been opened by the project on both the scientific and legal level. "

Jo Bauer, University Hospital Salzburg

Epidemolysis bullosa (EB) primarily affects the skin and mucous membranes and causes a great deal of pain. Those afflicted by the disease are known as butterfly children because their skin is as delicate as a butterfly’s wings. The disorder is characterised by the formation of blisters and abrasions. 

The disease severely restricts the sufferer’s quality of life and in some cases can lead to premature death. Various forms of EB have been identified, which are all caused by genetic mutations. About 30 000 people suffer from the disease across Europe – around 1 000 live in Italy and around 500 are resident in Austria.

Joining forces 

No effective form of therapy was available before this project started to deliver significant breakthroughs. A team of clinicians and molecular biologists from Bolzano Hospital in Italy and University Hospital Salzburg in Austria came together to develop an ex-vivo stem cell therapy regime which promises to transform lives.

EB patients from South Tyrol were thoroughly examined and their genetic characteristics evaluated by the research team. Biopsies were then taken from the skin of three patients and transported to a lab in Modena where initial groundwork on this form of therapy was carried out in 2006. The cells were isolated, corrected and a range of tests performed in preparation for further clinical studies.

Positive outcomes

The results have so far been extremely positive and the treatment shows potential to deliver long-lasting improvements. The project is therefore laying the foundations for a safe and approved therapy, which could bring relief to many EB sufferers in the near future. The two hospitals will continue to work together and both have learned skills and knowledge from the other. 

In addition, the centre at Salzburg has now been certified as a biopsy facility in accordance with Austrian regulations. Some 15 jobs were created during the project’s implementation phase and five posts were created after completion of the initial work.


Total investment and EU funding

Total investment for the project “Therapy for butterfly children” is EUR 1 103 686, of which the EU’s European Regional Development Fund is contributing EUR 564 211 from the Operational Programme “INTERREG IV A Italy-Austria” for the 2007 to 2013 programming period


Draft date

16/12/2015