Gene therapy saved a boy’s life from deadly skin disease

In a first, scientists have successfully treated a child suffering from extensive skin damage due to a genetic disease using transplants derived from genetically modified cells. The boy suffers from epidermolysis bullosa, a genetic skin disease that had destroyed about 80 per cent of the outermost layer of his skin.

After all established therapies had failed, the medical team from at the Ruhr-Universitat Bochum in Germany and University of Modena in Italy decided to try an experimental approach. They transplanted skin derived from genetically modified stem cells onto the wound surfaces. Thanks to the successful therapy, the boy is now – two years after the treatment - able to participate in his family’s life and social life. Epidermolysis bullosa is the scientific name of a congenital skin disease that is currently considered to be incurable.

By the time, seven-year-old Hassan was admitted to the paediatric intensive care unit at Katholisches Klinikum Bochum in June 2015, 60 per cent of his epidermis was lost. Due to the poor prognosis, doctors opted for an experimental therapy: the transplantation of genetically modified epidermal stem cells. The cells were obtained from the patient via skin biopsy. Following the first transplantation in Oct 2015, the patient’s condition began to improve. The integration of the intact gene through retroviral gene transfer into the genome of the epidermal stem cells had been successful and was proven to be stable.