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Cutting-Edge Gene Therapy Just Saved This Nine-Year-Old’s Life

When a rare disease destroyed most of this boy's skin, gene therapy saved his life by replacing 80 percent of it.

Gene therapy to treat a skin disease - Nature News and Views

Scientists successfully used gene therapy to save the life of a 9-year-old Syrian boy, after a rare genetic disease obliterated 80 percent of his skin. The boy suffers from junctional epidermolysis bullosa, a disorder that causes skin to blister and tear. Local doctors managed the condition with morphine (for the pain) until it became unbearable, upon which they transferred the boy to a burn unit in Germany. As a new case study published in Nature describes, they didn’t think he’d make it.

“We had a lot of trouble keeping this kid alive,” Tobias Rothoeft, a pediatrician who treated the boy, told The New York Times. Rothoeft tried antibiotics, bandages, and even a skin transplant from the boy’s father, but nothing helped. “After two months, we were sure we could do nothing for this kid and he would die,” Dr. Rothoeft said. But the boy’s parents pleaded with doctors to keep going.

Junctional epidermolysis bullosa is a major type of epidermolysis bullosa, a genetic connective tissue disorder that impacts approximately 6.5 per million newborns in the U.S. each year. In the past scientists have attempted to treat it with bone marrow transplants, but several children have died from the side effects. Those who have it are referred to “butterfly children” because their skin as fragile as a butterfly’s wing and wounds can cover up to 75 percent of their bodies. The estimated cost of specialized bandages alone exceed $10,000 per month and children who don’t die of infections have a life expectancy of 15 to 35 years. There is no known cure.

Out of ideas but determined to try to help, Rothoeft and his team reached out to a team of regenerative medicine specialists in Modena, Italy, led by Michele De Luca, who had reported some success in treating small patches of skin with cutting-edge gene therapy. De Luca agreed to try to help the boy, and used about one square inch of his skin as a template to genetically engineer replacement skin for a graft. The regenerative experts promised they “could give us enough skin to heal this kid, which we then tried, and we were in the end successful,” Rothoeft said.

They ended up replacing 80 percent of the boy’s skin. So far, he’s doing fine.  

It’s important to note that this method of gene therapy is currently undergoing testing in clinical trials and it may have dangerous side-effects. Holm Schneider of the University Hospital Erlangen in Germany (who was not involved in the case study), warns that severely ill patients might have an adverse reaction to skin transplants with an added gene. “The immune system might recognize this new gene as something foreign to be attacked and destroyed,” Schneider explained to ABC News.

Still, for this 9-year-old boy and his family who were out of options, untested gene therapy was the best option available. “We were forced to do something dramatic because this kid was dying,” De Luca told ABC News. “The parents are very grateful and say their life has completely changed.”