Seven-year-old Hassan was dying. An infection had destroyed most of his skin, he was too weak to eat, and he was in agony.
Doctors in Germany were planning to provide palliative care — keeping the child as comfortable as possible while he died. But there was another option: an experimental skin graft made using gene therapy to correct the faulty DNA that gave the boy his delicate, blister-prone skin.
It worked. The graft replaced 80 percent of Hassan’s skin, and he’s back at school, leading a normal life, the researchers reported Wednesday in the journal Nature.
“The amount of coverage that (the team) was able to achieve on this patient and the impact that this has had on the patient’s life is really incredible,” said Dr. Peter Marinkovich of Stanford University, who also uses skin grafts to treat similar patients.
“It shows the promise of what we are doing.”
Hassan, identified only by his first name, has a rare genetic condition called junctional epidermolysis bullosa. This particular type of epidermolysis bullosa (EB) is caused by defects in genes that control development of a membrane in the epidermis — the top layer of skin.
Kids with EB, sometimes called “butterfly children” because their skin is as fragile as butterfly wings, develop painful blisters when their skin layers rub against one another with any movement. They are vulnerable to infections and skin cancer and often die before age 30. There is no cure.
“Since birth, the patient had developed blisters all over his body, particularly on his limbs, back and flanks,” the researchers wrote. His blistered skin had been attacked by two bacterial infections that destroyed most of it.
Skin grafts usually don’t work for these patients because of the genetic mutations controlling how the skin grows. The boy had been given skin grafts from his father, but they did not last.
However, some earlier experiments had shown it might be possible to take some skin from a patient, replace the faulty gene using gene therapy, grow the skin into sheets in the lab, and then graft it back.
But this approach had only been tried on two children and only replacing small patches of skin. And the treatment itself could kill Hassan.
The desperate parents asked to try it, anyway.
The team at Children’s Hospital at Ruhr University in Bochum, Germany teamed up with specialists across Europe, led by Dr. Michele De Luca of the University of Modena and Reggio Emilia in Italy, a specialist in regenerative medicine.
It’s one of several approaches being tried to help children and adults with EB. About 20 in every 1 million babies born in the U.S. have one of the various forms of the condition and advocacy groups estimate between 25,000 and 50,000 people in the U.S., mostly children, currently have EB.
Last year Marinkovich’s team at Stanford used gene therapy to treat four adults with a form of EB that is a little different from the case of the boy in Germany. But they only replaced patches of skin the size of playing cards, Marinkovich said.
They are now recruiting patients for a bigger experiment to prove it’s safe to do in children.
“This is really the way to go. You can get to the patients early before they have all the complications and suffering,” Marinkovich said.
Because gene therapy is uncertain, Marinkovich said his team is also testing out a more direct treatment. Instead of replacing the gene, they inject the protein that the gene codes for into the skin of patients. It’s not as permanent a solution, but the protein can help normalize the skin for a few months, he said.
“It bypasses some of the safety issues,” Marinkovich said.
A team at the University of Minnesota has been trying a different tactic, using bone marrow transplants to help patients, and they’ve moved on to advanced gene-editing methods to try to create corrected skin grafts for patients.
Any of the treatments being developed for EB could help patients with other skin diseases caused by a single mutated gene, such as epidermolytic ichthyosis, which causes reddening, scaling, and severe blistering of the skin, Marinkovich noted.
There are also many different experimental approaches to skin grafts, including methods that break down a patient’s skin sample into a liquid, growing a slurry of new cells, and spraying them over a burned area or a wound.
Treating burns or deep injuries can be far more complicated than merely replacing the top layer of skin, the epidermis, Atala noted. Human skin has several layers and is itself a complex organ. Atala’s lab is working on ways to regenerate and replace the multiple layers of skin lost in a serious burn or injury.
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