The combination of gene therapy and stem cell therapy has shown long-term success in treating rare skin disease

Scientists reported the long-term success of an experimental operation in 2015 to transplant skin from genetically modified stem cells to a child with epidermolysis bullosa (EB). For the first time, a team of therapists from Germany and Italy could save a patient whose skin surface had been destroyed by 80%. However, doctors were unsure if the treatment would be successful in the long term and if the skin would remain stable.

Epidermolysis bullosa, also called “butterfly disease”, is a rare genetic disorder caused by defects in the adhesive proteins of the epithelium, which leads to the fragility of the skin and mucous membranes. As a result, blisters and erosion form on the skin after minor injuries or spontaneously. The disease can affect certain areas (usually feet and hands) or manifest itself on the body`s entire surface. Currently, there are no treatment for this disease, so severe forms can be fatal for patients already at a young age.

In 2015, a team of therapists from Germany and Italy managed to save a 7-year-old patient whose skin surface was 80 percent destroyed. Because the child would not have survived without treatment, doctors received approval for the compassionate use of experimental therapy. It was unclear at the time whether the treatment would be successful in the long term and whether the skin would remain stable.

Plastic surgeons Dr. Maximilian Kückelhaus and Prof. Tobias Hirsch from the University of Münster answered this question. Together with colleagues, they demonstrated the long-term success of this experimental treatment. The study results were published on December 9, 2021, in The New England Journal of Medicine.

For the treatment of a young patient named Hassan, a new therapy method was chosen, which had never been used in medicine in this way. Scientists “corrected” the defective gene in the boy’s stem cells in the laboratory. Then, about one square meter of skin was grown from these cells and transplanted onto the areas of the body with wounds.

The treatment was successful, the boy survived. Today, Hassan is 13 years old, and his skin is healthy. He goes to school and plays sports. Even though he was in a hospital ward, he needed morphine every day and ate only through a tube.

He is currently the only person whose skin (the largest organ in the body) has been almost entirely replaced by genetically modified cells. Therefore, it is more important to check the long-term effects and ensure that the transplanted organ remains stable.

In their five-year study, Dr. Kückelhaus and Prof. Hirsch proved that genetically modified skin is healthy and 100% stable. However, the research team found no side effects from the transplant.

“After this positive, promising result broad-based clinical studies are to be undertaken with the aim of making the combined gene and stem-cell therapy available as an option for many children with EB,” – said Professor Hirsch, looking to the future.