Two years ago, the boy was hospitalised with blisters on his limbs, back and several other parts. He lost about 60% of the outer layer of his skin and was put into an induced coma to stop him from feeling pain. Doctors at Children's Hospital at Ruhr University in Bochum, Germany, tried skin grafts from his father and donor skin without success.
"We were forced to do something dramatic because this kid was dying," said Dr Michele De Luca of the University of Modena in Italy, who received a call for help from the German doctors treating the boy.
The butterfly childrenThe boy had suffered from junctional epidermolysis bullosa, a specific type of epidermolysis bullosa (EB) caused by defects in genes that control development of a membrane in the epidermis. Sometimes called ‘butterfly children’ because of their fragile skin similar to butterfly wings, kids with EB usually develop painful blisters when their skin layers rub against one another with any movement, and often pass away before the 30 years old.
Junctional EB (JEB) affects around 5% of individuals with EB – and has no cure.
Doctors initially gave the boy two months to live. However, his parents were not willing to give up. Hence, the team at Children’s Hospital at Ruhr University in Bochum, Germany teamed up with specialists across Europe, led by Dr Michele De Luca, a specialist in regenerative medicine, of the University of Modena and Reggio Emilia in Italy.
They took a patch of non-blistered skin from the boy’s leg and used a virus to carry a corrected version of the bad DNA into his skin cells.
A gruelling processThe process took three separate operations within a number of months, to grow grafts of the corrected skin and replace the lost skin. The boy was kept in an induced coma for 12 days after the first operation in order to keep the grafts immobile and allow the cells to attach. In total, the team was able to replace 80% of the boy’s skin, and after 8 months in intensive care, the boy was allowed to go home.
"This takes us a huge step forward," said Dr Peter Marinkovich of Stanford University School of Medicine, who has done related work. He said it was impressive that De Luca and colleagues were able to make such large amounts of viable skin after correcting the genetic defect.
However, experts share concerns that the method might not work in all cases.
"The immune system might recognise this new gene as something foreign to be attacked and destroyed," said Schneider, of the University Hospital Erlangen in Germany. He, however, believes that the approach is worth trying in dying patients.
Bone marrow transplant – a potential cureIn another case of EB, Elisa McCann, 18-months-old became the 28th child enrolled in a ground-breaking clinical trial at the University of Minnesota, that uses bone marrow from healthy donors to combat symptoms from EB.
The trial that started in 2007 is still considered experimental, but has become the treatment of choice for the most severe cases of EB, according to Dr Jakub Tolar, director of the university’s Stem Cell Institute.
“This is one of the most difficult to treat disorders and a very painful disorder,” Dr Tolar said. “Before we started, there was absolutely nothing that would change the outcome of these children.”
Elisa received her bone marrow transfer from her sister, Stella. However, before the transplant took place, scientists had to give Elisa chemotherapy and radiation to make room for the new cells to “set up shop,” said Dr Tolar.
As a result from the treatment, more than half of the donor cells from Stella had partially engrafted, and Elisa now gets smaller blisters that heal themselves. There were about a third of the children, who received bone marrow transplants n previous protocols, had some improvement, but not as dramatic as the results shown on Elisa. In many of the children, Dr Tolar has been able to show that cells from the donated bone marrow actually gravitate to the skin, which in turn heals the injuries.
“A lot of families are feeling more hopeful that this is happening,” said Andrea Pett-Joseph, lead scientist at EB Medical Research Foundation. “It’s happening at a good pace and people can see the evidence of it. Sometimes, science is so far away.” MIMS
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