A 24-year-old patient is treated at the University Hospital Salzburg as the world’s first EB patient with a new drug that is currently undergoing approval studies.
500 people in Austria suffer from the rare, congenital and so far incurable skin disease epidermolysis bullosa (EB). The young and adult patients are called “butterfly children” because their skin is as vulnerable as the wings of a butterfly. Even light touches cause blisters, wounds and pain. EB begins with birth and accompanies those affected throughout their lives.
Most patients with severe EB develop squamous cell carcinoma (“white skin cancer”), which almost always leads to death. Patients are now placing great hopes in a drug that a listed US pharmaceutical company has developed. On the way to approval, it is currently being tested for tolerability, safety and effectiveness as part of a phase II study.
There was a world premiere at the University Hospital Salzburg in the EB House Austria, the special clinic and the expertise center for “butterfly children”. The EB House is part of the University Clinic for Dermatology and Allergology under the direction of Board Member Johann Bauer. Last week, a 24-year-old was the first EB patient to receive an infusion of the drug in the course of the study. “The combination of EB and ‘white skin cancer’ leads to a very aggressive progression of the carcinoma, with which there is currently no prospect of a cure,” explains Bauer. The chances of survival would be practically zero percent. The clinical study is a ray of hope for people who live with the rare genetic defect. The patient will receive four infusions within eight weeks. Then nine more infusions are given every four weeks.
“It is an enzyme brake. Together with colleagues in Philadelphia and London, we were able to demonstrate in the laboratory that it primarily attacks cancer cells, but not healthy cells,” says Bauer. The study is being carried out jointly with the American Thomas Jefferson University Philadelphia and the Guy’s and St Thomas’ Hospital in London. The drug is now to be used in twelve patients worldwide. Two of them are expected to be treated in Salzburg.
Debra International, the worldwide self-help network for “butterfly children”, is providing 360,000 euros for the study. “The aim of the study is to check the tolerability and to prove that the patients respond to the treatment. There is currently no effective therapy for this serious disease,” emphasizes Bauer.
The EB House was opened in 2005 at the Salzburg University Hospital. It is financed almost exclusively by donations through Debra Austria. Connected are the outpatient clinic, a study center, a research unit and an academy.
Donation account: First Bank
AT02 2011 1800 8018 1100
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