美国国家公共电台 NPR Genetically Altered Skin Saves A Boy Dying Of A Rare Disease

ROBERT SIEGEL, HOST:

We're going to hear now how doctors in Europe used genetically 3 engineered skin cells to treat a child who was on the verge 4 of death from a rare inherited disease. The treatment represents a notable success for the field of gene 1 therapy, which has suffered many setbacks. And it's potentially good news for children with this painful and often deadly skin condition. NPR's Richard Harris has the story.

RICHARD HARRIS, BYLINE 5: The boy was born with a genetic 2 flaw that left him with a condition called junctional epidermolysis bullosa. The outer layer of his skin didn't bind 6 well to the inner layer, and as a result, excruciating blisters 7 appeared all over his body. In 2015, the 7-year-old boy ended up in a hospital after 60 percent of the outer layer of his skin, his epidermis 8, had sloughed 9 off. Tobias Rothoeft, a surgeon at a burn unit in Bochum, Germany, says doctors tried everything, including a skin transplant from the boy's father. But nothing helped.

TOBIAS ROTHOEFT: After nearly two months, we were absolutely sure that we could do nothing for this kid and that he would die.

HARRIS: Rothoeft and his colleagues took one last look around the medical literature and learned of an Italian team that was experimenting with a new treatment for this disease. Michele De Luca at the University of Modena was genetically engineering skin cells to repair the inborn 10 flaw.

ROTHOEFT: And he promised us he could give us enough skin to heal this kid.

HARRIS: In a phone press conference hosted by the journal Nature, De Luca explained that he used a virus to insert a healthy gene into cells taken from the boy's skin. Some of those cells - stem cells - multiply indefinitely. So De Luca was able to grow entire sheets of engineered epidermis.

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MICHELE DE LUCA: They are then packaged and transferred to the hospital where they are applied 11.

HARRIS: De Luca used this procedure successfully 12 years ago to replace a relatively 12 small patch of skin. But this boy needed to have 80 percent of his skin replaced with grafts 13 of this genetically modified material. It took two operations both in the fall of 2015, starting with his arms and legs.

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DE LUCA: In the first one, we grafted 14 all four limbs. In the second operation, we grafted the remaining part of the body, mainly the back.

HARRIS: After eight months in the intensive care unit, the boy was well enough to go home. And two years later, the grafts are still going strong. Tobias Rothoeft says the boy is in school, even playing soccer.

ROTHOEFT: The kid is doing quite well. The skin is of good quality. It doesn't need any ointments 15 or stuff like that. It's perfectly 16 smooth, and it's quite stable. If he gets any bruises 17 like small kids have, they just heal like bruises in every other kid do.

HARRIS: One lingering question is the concern that gene therapies like this involving viruses can increase the risk of cancer.

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DE LUCA: Certainly it is a potential problem.

HARRIS: But Dr. de Luca says the risk is small compared with the life-saving benefit of this treatment. News of this is just starting to trickle 18 out to advocates who have children with epidermolysis bullosa.

BRETT KOPELAN: I think it's groundbreaking. You know, I think it's incredibly exciting.

HARRIS: Brett Kopelan heads a U.S. organization focused on this disease known by its acronym 19 DEBRA. His 10-year-old daughter, Rafi, has a severe case of the disease requiring frequent throat surgeries and the use of a wheelchair. The skin therapy described in the Nature paper wouldn't cure her, but it could reduce the agony of daily living. And Kopelan says medical interest in this disease is now growing rapidly.

KOPELAN: We've gone from zero biotechnology and pharmaceutical 20 to 12 companies. So we're really at an inflection point right now.

HARRIS: Experimental treatments are getting underway in the United States and Asia as well as in Europe. Richard Harris, NPR News.