Those with EB have to regularly cover their affected areas in bandages to prevent infection. Image: Valerio Pardi/Shutterstock
A seven-year-old child in Germany, a refugee from war-torn Syria, has received a potentially life-saving skin transplant to treat his EB.
Those suffering from the rare genetic condition known as epidermolysis bullosa (EB), which causes immense pain and leaves much of a person’s body covered in chronic wounds, could finally be able to receive some much-needed treatment with a breakthrough operation.
In a paper published to the journal Nature, a team from the University of Modena in Italy revealed that a seven-year-old Syrian boy in Germany – who lives with a form of EB known as junctional EB – has had 80pc of his skin genetically modified.
According to ScienceAlert, the boy presented to emergency services in 2015 with severe lesions and blistering on most of his body.
Appears to be full recovery
While there is no known cure for the condition, the team led by Michael De Luca took skin cells from the 20pc of his body that wasn’t affected by EB, and established genetically modified protein cultures that did not contain the genetic mutation.
The modified gene, known as LAMB3, was then grown into a series of skin grafts, which were used to replace the EB-damaged skin over a period of three operations, leaving healthy skin in its place.
Over the next 21 months, examinations remarkably showed that he had achieved a full recovery, leaving the researchers more than impressed with the outcome.
“It can be argued that the patient’s clinical picture (massive epidermal loss, critical conditions, poor short-term prognosis) was unusual and our aggressive surgery (mandatory for this patient) unthinkable for the clinical course of most patients with epidermolysis bullosa,” the team said.
“However, progressive replacement of diseased epidermis can be attained in multiple, less-invasive surgical interventions on more limited body areas.”
‘Whole EB community is blown away’
The team will continue to monitor the boy’s progress over the years, but the breakthrough offers considerable hope to as many as half a million people across the world who live with EB.
At Inspirefest 2017, Liz Collins and Emma Fogarty from Debra Ireland – a charity for those living with EB – spoke of what life is like with the condition, both as a parent and as someone living with it on a daily basis, respectively.
Dr Lara Cutlar, a postdoctoral researcher who has worked with Debra Ireland and has helped to research possible treatments and cures for EB, described the breakthrough as “really significant”.
“The whole EB community is blown away by their results and the fantastic treatment they managed to give this boy,” Cutlar said to RTÉ.
Collins also celebrated the news, saying: “Do I think the science is going in the right way? Most definitely, I do. Do I believe the next generation of children are going to be helped greatly? Yes, I do. This is an amazing breakthrough.”
