Gene therapy saves boy’s skin, life — Study


PARIS: A boy who nearly died when disease stripped most of the skin from his body, is playing soccer two years after he received a new, gene-edited hide in an experimental procedure, the doctors who treated him said.

The boy, then seven years old, was admitted to hospital in June 2015 with the ‘devastating’ effects of a genetic disease called Junctional epidermolysis bullosa (JEB) that has tormented him since birth.

The disease causes the skin to blister and come off at the slightest touch. Doctors were at a loss. After trying everything they knew, they concluded the child would die. He was admitted to the Ruhr University Children’s Hospital in Bochum, Germany “because he had developed an infection in which he rapidly lost nearly two-thirds of body surface area” of the outer skin layer called the epidermis, said Tobias Rothoeft of the hospital’s burn unit.

“He was in a septic state he was severely dystrophic (wasting away), so we had a lot of problems in the first days keeping this kid alive.” His doctors consulted experts around the world.

They tried to promote ‘spontaneous healing’ with strong antibiotics, which did not work, then transplanted skin from the boy’s father, which was rejected.

“After nearly two months we were absolutely sure that we could do nothing for this kid and that he would die,” Rothoeft told journalists ahead of the study’s publication in the journal Nature.

As the discussion turned to making the boy’s last days as comfortable as possible, his parents urged doctors to try ‘anything’. So they ‘studied the literature’ and came across the work of Michele de Luca (SUBS: male), a regenerative medicine expert in Modena, Italy.

“He promised us he could give us enough skin to heal to heal this kid,” said Rothoeft. — AFP