Doctors used an experimental gene therapy to create an entirely new skin for a critically ill boy in a desperate attempt to save his life.
Two years later, the doctors report the boy is doing so well that he does not need any medication, is back in school and even playing soccer.
“We were forced to do something dramatic because this kid was dying,” said Dr. Michele De Luca of the University of Modena in Italy, who got a call for help from the German doctors treating the boy.
The boy, then 7, was hospitalized in June 2015 with blisters on his limbs, back and elsewhere. He quickly lost about 60 percent of the outer layer of his skin and was put into an induced coma to spare him further suffering. Doctors at Children’s Hospital at Ruhr University in Bochum, Germany, tried skin grafts from his father and donor skin, but all failed.
“He was in severe pain and asking a lot of questions,” the boy’s father said in a video provided by the hospital “Why do I suffer from this disease? Why do I have to live this life? All children can run around and play, why am I not allowed to play soccer? I couldn’t answer these questions.”
The boy had a rare, almost incurable skin disease called junctional epidermolysis bullosa, caused by genetic mutations. People with the disease lack critical proteins that attach the outer layer of the skin to the inner layer, resulting in fragile skin with almost constant blisters and open sores.
“This takes us a huge step forward,” said Dr. Peter Marinkovich of Stanford University School of Medicine, who was involved with the treatment. He said it was impressive that De Luca and colleagues were able to make such large amounts of viable skin after correcting the genetic defect.