When a rare genetic condition (bullous epidermis or butterfly skin) destroyed almost 80% of the skin of a 7-year-old boy, doctors were sure he would die. However, an experimental gene therapy treatment has saved his life.
Epidermolysis bullosa is a genetic disease that holds the two layers of skin, the dermis and the epidermis, the skin transforming an excessively fragile tissue to the rubbing of a tissue causes blisters and wounds.
There is currently 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 boy, giving hope to the hundreds of thousands of families affected by this disease around the world.
“The boy was transferred to another hospital in the summer of 2015 because he had developed an infection whereby he quickly lost almost two-thirds of his body surface area. 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 child’s father, the medical team was left with few options. “ After almost 2 months, we were absolutely certain that we could [do] nothing for this child and that he would die. “ says Rothoeft. The boy’s parents asked if anything else could be done.
A crucial moment
While Rothoeft and his team were doing their best to keep the boy 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 his laboratory. The experimental therapy was starting.
Scientists had to correct the genetic mutation that causes epidermolysis bullosa and have never before tried to repair so much tissue at once. 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 boy entered his first operation, he had lost almost 80% of his skin . They applied the genetically modified skin grafts to his arms and legs and kept him in an artificial coma for 12 days to keep the grafts immobile and allow the cells to adhere. The procedure was successful and the patient showed the first signs of improvement.
Doctors carried out 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 boy was able to return home. And not only that. His improvement has been remarkable . After 21 months, the boy is doing quite well. “The skin is of good quality, it is perfectly smooth and quite stable. If you have bruises like other young children, they heal when normal skin heals. You still have some blisters in non-transplanted areas, but you have never had blisters in areas again. already treated “, clarifies 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 on morphine all day to no drugs at this point,” says Rothoeft. And it is that, although the disease has not been cured -because this pathology affects all the cells of the organism-, something historic has been achieved: regenerating 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 was also able to demonstrate with this work is that only a small number of stem cells are needed to regenerate skin and it gives hope for the many patients – almost 500,000 people in the world – who suffer from butterfly skin.
Referencia: Regeneration of the entire human epidermis using transgenic stem cells. Tobias Hirsch, Tobias Rothoeft. Nature (2017) DOI: doi:10.1038/nature24487
