Boy with rare disease gets new skin with gene therapy

FDA OKs drug to block infection after marrow transplant

LONDON, Nov 9, (AP): Doctors treating a critically ill boy with a devastating skin disease used experimental gene therapy to create an entirely new skin for most of his body in a desperate attempt to save his life.

Two years later, the doctors report the boy is doing so well that he doesn’t 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’s parents asked about experimental treatments, and De Luca and his colleagues were contacted. 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.

“It was a tough decision for us, but we wanted to try for (our son),” the boy’s father said. The family asked that their names not be used to protect the boy’s privacy.

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.

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.

In total, they grew close to a square meter of skin (9 square feet.) The labgrown skin was then 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. After eight months, the doctors said that nearly all of the boy’s skin had been generated by the modified stem cells.

So far, no problems have been detected. De Luca said the boy will be monitored closely for skin cancer and other potential issues.

“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.”

Also: TRENTON, NJ:

US regulators have approved the first drug to prevent lifethreatening infections in adults after a bone marrow transplant.

The Food and Drug Administration on Wednesday approved sales of Merck and Co’s Prevymix (PREH’vih-miss) to prevent infections with cytomegalovirus (sy-toe-MEG’a-low-vy-rus), a common virus. It doesn’t sicken most people, but strikes at least half of transplant patients, who are particularly vulnerable to infection. The virus can damage the eyes, lungs and other organs, trigger pneumonia and even kill.

Kenilworth, New Jersey-based Merck says the drug will cost $195 to $270 per day for 100 days.

Each year, about 8,500 Americans receive transplants of blood-forming cells from bone marrow to treat blood cancers or other blood disorders.