A 7-year-old who lost most of his skin to a rare genetic disease has made a dramatic recovery after receiving an experimental gene therapy, researchers announced today. The treatment—a whole-body graft of genetically modified stem cells—is the most ambitious attempt yet to treat a severe form of epidermolysis bullosa (EB), an often-fatal group of conditions that cause skin to blister and tear off at the slightest touch.
The new approach can address only a subset of the genetic mutations that cause EB. But the boy’s impressive recovery—he’s now back in school and is even playing soccer—could yield insights that help researchers use stem cells to treat other genetic skin conditions.
“It is very unusual that we would see a publication with a single case study anymore, but this one is a little different,” says Jakub Tolar, a bone marrow transplant physician at the Masonic Cancer Center, University of Minnesota in Minneapolis who is developing therapies for EB. “This is one of these [studies] that can determine where the future of the field is going to go.”
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EB results from mutations to any of several genes that encode proteins crucial for anchoring the outer layer of skin, the epidermis, to the tissue below. The missing or defective protein can cause skin to slough off from minor damage, creating chronic injuries prone to infection. Some forms of EB can be lethal in infancy, and some predispose patients to an aggressive and deadly skin cancer. The only treatment involves painfully dressing and redressing wounds daily. Bandage costs can approach $100,000 a year, says Peter Marinkovich, a dermatologist at Stanford University in Palo Alto, California, who treats EB patients. “They’re like walking burn victims,” he says.
In fact, the new approach is similar to an established treatment for severe burns, in which sheets of healthy skin are grown from a patient’s own cells and grafted over wounds. But stem cell biologist and physician Michele De Luca of the University of Modena and Reggio Emilia in Italy and his colleagues have been developing a way to counteract an EB-causing mutation by inserting a new gene into the cells used for grafts. His group has already treated two EB patients with this…