A seven-year-old boy suffering from a fatal genetic disease got his Christmas wish in advance: a fresh start in life and a chance to a normal childhood — all thanks to an experimental gene therapy. This groundbreaking technique was developed by doctors in Europe and can effectively grow healthy human skin from scratch.
Hassan was born with a rare and devastating genetic condition called junctional epidermolysis bullosa (EB), which ate away most of his skin. Junctional EB is caused by a faulty gene that prevents the outer layer of the skin, or the epidermis, from binding to the inner layer, or the dermis. The disease causes agonizing blisters to form all over the body and leaves the skin as fragile as a butterfly’s wings — which is why children born with this condition are also referred to as “butterfly children.”
The extremely fragile skin affected by junctional JB is highly prone to tearing and becomes very vulnerable to infections, as well as skin cancer. Junctional JB has no cure, and about 40 percent of children plagued by this disease never make it to adolescence, notes the BBC.
Hassan had been suffering from blisters on his entire body ever since birth, and in 2015, at the age of seven, he contracted bacterial infections that caused him to lose two-thirds of his skin. He was rushed to the Children’s Hospital at Ruhr University, in Bochum, Germany, where he was sent to the burn unit.
His doctors had little hope of treating him and, two months into the hospitalization, they decided to start palliative care, being convinced Hassan would not survive. After trying anything they could think of to treat their patient, the doctors were left with no other option except administering morphine for the pain.
In a desperate last effort, Dr. Tobias Hirsch, one of the doctors treating Hassan, sought the help of a team of biologists from the University of Modena and Reggio Emilia, in Italy, who specialize in gene therapy. The team, led by Prof. Michele De Luca, was working on an experimental treatment targeting the same gene responsible for Hassan’s EB.
Their investigation was still ongoing in the form of a clinical trial when they were approached by Dr. Hirsch. Since all previous attempts to save Hassan’s life proved unsuccessful, reports The New York Times, which notes the doctors tried everything from antibiotics and bandages to a skin transplant from the boy’s father, the distraught parents consented to De Luca’s experimental gene therapy.
In essence, De Luca’s work was centered on genetically engineering skin cells in which the faulty was corrected. In September 2015, his team collected a biopsy from Hassan — a patch of skin a little bigger than half a square inch, in which the epidermis was still intact — and transported to Modena. Here, the skin sample was injected with a customized virus that helped repair the gene.
By isolating a few long-lasting stem cells discovered in the biopsy, De Luca was then able to grow entire sheets of skin in the lab — a total of nine square feet of genetically-corrected skin. De Luca had previously used this innovative technique back in 2006 when he successfully replaced a considerably smaller patch of skin on another patient.
The healthy epidermis was later shipped to the German hospital, where the lab-grown material was grafted onto the boy’s body. Over the course of three surgical interventions, the doctors replaced 80 percent of Hassan’s skin — starting with the arms and legs, in October 2015, and moving on to his back a month later.
After spending nearly eight months in the hospital and being kept in a medically induced coma for more than half the time to spare him the agonizing pain, Hassan was finally taken off the morphine a few weeks before Christmas and woke up with a completely new suit of skin.
“It was spectacular. It was great. We removed the gauze, and saw the epidermis underneath. Everybody was pretty happy. We got the feeling that the body of the kid was recovering, was responding. That was the time where we thought, maybe we can make it,” De Luca said in a statement.
According to Dr. Hirsch, Hassan made an amazing recovery and his quality of life is infinitely better. The Altantic announced the boy was discharged from hospital in February 2016 and he was already back in school the following month.
Nearly two years after his surgeries, the new skin appears completely normal. The epidermis genetically engineered by De Luca has no sign of blistering and heals just like ordinary skin, without requiring ointments or any kind of special treatment.
A study detailing the pioneering technique was published on November 8 in the journal Nature.
[Featured Image by Andrey Prokhorov/iStock]