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EB researchers break new ground with skin graft trial

EB researchers break new ground with skin graft trial

An international team of researchers has broken new ground with a pioneering skin grafting procedure, reconstructing a fully functional outer skin – or epidermis – for a child suffering from a severe, and often fatal, form of EB.

Researcher Michele De Luca and colleagues reconstructed skin covering approximately 80% of the total body surface area for a seven-year-old child suffering from Junctional EB. Junctional EB is caused by mutations (or mistakes) in the genetic code that creates the protein laminin-332, which binds the layers of the skin together. This is the first time grafting such a large area of fully functioning skin on a person suffering from EB has been trialled.

Junctional EB has a severe negative impact on the quality of life. Forty percent of people suffering with Junctional EB die before adolescence. Those who survive develop chronic wounds, infections and tissue damage. People suffering from the condition also face an extremely high risk of developing an aggressive form of skin cancer.

During this experimental treatment, skin cells were taken from a non-blistering area on the patient’s body, genetically modified to contain the corrected form of LAMB3 – one of the genes responsible for the creation of the protein laminin-332. The corrected skin cells were then grown into grafts in the laboratory and transplanted back onto the patient in three separate procedures. Crucially, during the 21 month period following the study, the transplanted skin remained robust and did not suffer from blistering during this time.

Earlier research has shown that transplantation of gene corrected skin cells could create functional skin on a smaller scale. This new research confirms that the transplanted skin is being maintained by specific groups of epidermal stem cells, which are capable of renewing both in the laboratory and in the person’s skin without apparent deterioration.

Ben Merrett, CEO of DEBRA UK, the national charity supporting those directly affected by, and working with, EB, said:

‘We’re delighted this potentially life-transforming research has taken place, and has had such a beneficial effect for the patient involved. The successful outcome of this study could pave the way for the further research and development of gene and cell therapies to treat not only Junctional EB, but other types of EB as well. With over 5,000 people suffering from EB in the UK, and more than 500,000 worldwide, this could improve the quality of life for many members of our community.’

Pioneering research like this helps to increase the profile of EB. DEBRA has launched a #FightEB appeal to raise EB awareness across the UK. Visit www.FightEB.org.uk to see inspiring stories from our members, donate and get involved.

DEBRA UK is part of DEBRA International, a worldwide network of organisations supporting people suffering from EB in over 50 countries. This study was made possible by funding from a range of different sources, including DEBRA Austria.

Image credit: Nature, taken from www.bbc.co.uk

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