A boy with rare disease gets treatment by doctors developing new skin with gene therapy. Most of the body in a distressed to help and save his life.
The boy lost 60 percent of outer skin suffering from blisters on his limbs, back and some parts. Doctors from children’s Hospital at Ruhr University in Bochum, Germany, tried skin grafts from his father and donor skin, but all failed.
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 had a rare, 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.
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.
They had previously used gene therapy to produce a small piece of skin in a similar case. They told the family that the boy’s precarious state meant that he might not survive the complicated surgeries needed to save him.
Furthermore, to fix that, the doctors took a small piece of the boy’s skin from an area that was OK. In the lab, they added a normal version of his bad gene to his skin cells. They grew sheets of the boy’s skin, in much the same way skin grafts are grown for burn victims.
Doctors grew close to a square meter of skin. The lab-grown skin transplanted onto the boy in three operations, ultimately covering 80 percent of his body. Ten days later, the new skin was already beginning to grow, De Luca said. Meanwhile, after eight months, the doctors said that nearly all of the boy’s skin generated by the modified stem cells.
Finally, this kid is back to his normal life again, one of the German doctors, Dr. Tobias Rothoeft, said Wednesday. That’s what we dreamed of doing and it was possible.
This takes us a huge step forward, said Dr. Peter Marinkovich of Stanford University School of Medicine, who has done related work. 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.
Moreover, But he noted the approach might not help in more serious cases, which often have tricky complications, like skin blistering in the lungs. Marinkovich said many patients don’t survive beyond age 2 and that using the treatment for babies could be even riskier.
At last, Dr. Holm Schneider warned that some severely ill patients might have an extreme reaction to skin transplants with an added gene.
However, the immune system might recognize this new gene. As something foreign to attack and destroy, said Schneider, of the University Hospital Erlangen in Germany. Still, he said the approach was worth trying in dying patients.
