When a rare genetic condition (bullous epidermis or butterfly skin) destroyed almost 80% of the skin of a 7-year-old child, doctors were sure that he would die. However, an experimental gene therapy treatment has saved his life.
The epidermolysis bullosa is a genetic disease that holds together the two layers of skin, the dermis and epidermis, transforming the skin in an excessively fragile tissue until a tissue rubbing causes blisters and wounds.
Currently there is no cure for butterfly skin or crystal skin. And here is the story of how an experimental gene therapy saved the life of a little one, giving hope to the hundreds of thousands of families affected by this disease throughout the world.
“The child was transferred to another hospital in the summer of 2015 because he had developed an infection that quickly lost almost two-thirds of his body surface, and when he was admitted to our burn center, he was in a septic state, so we had many problems during the first days to keep it alive, “explains Tobias Rothoeft, co-author of the work to the journal Nature.
After trying several different treatments, including a skin graft from the father of the child, the medical team was left with few options. “After almost 2 months, we were absolutely sure that we could not [do] anything for this child and that he would die” says Rothoeft. The child’s parents asked if more could be done.
A crucial moment
While Rothoeft and his team were doing everything possible to keep the child alive, scientist Michele De Luca, professor of biochemistry and director of the Center for Regenerative Medicine “Stefano Ferrari” at the University of Modena and Reggio Emilia (Italy) began to test Stem cells in your laboratory. Started experimental therapy.
The scientists had to correct the genetic mutation that causes epidermolysis bullosa and never before had they tried to repair so much tissue at the same time. Finally, they made a new dermis from their own skin cells, from one of the few areas of the child’s body that still remained intact.
By the time the child entered his first operation, he had lost almost 80% of his skin. They applied the genetically modified skin grafts on his arms and legs and kept him in artificial coma for 12 days to keep the grafts immobile and allow the cells to adhere. The procedure was a success and the patient showed the first signs of improvement.
The doctors performed a second and third operation to cover his back, buttocks and parts of his shoulders, hands and chest with new genetically modified skin grafts.
After spending almost 8 months in the intensive care unit, the child was able to return home. And not only that. His improvement has been remarkable. After 21 months, the child is quite well. “The skin is of good quality, it is perfectly smooth and quite stable. If you have bruises like those of other small children, they heal when normal skin heals. You still have some blisters in non-transplanted areas, but you have never had blisters in areas already treated, “says Rothoeft.
This young patient has not only saved his life but his quality of life has improved significantly. He lives a normal life and plays soccer with his brothers and friends.
“The change goes from being with morphine all day to no drugs at this time,” says Rothoeft. And, although it has not been able to cure the disease, because this pathology affects all the cells of the body, it has achieved something historic: regenerate the entire area damaged by such a cruel disease.
A breakthrough for gene therapy
For the field of gene therapy, this is clearly a success story. What the team could also demonstrate with this work is that only a small number of stem cells are needed to regenerate the skin and it gives hope for the many patients – almost 500,000 people in the world – who suffer from butterfly skin.