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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 Epidermolysis Bullosa (EB) – a genetic skin condition that causes constant pain due to unstoppable internal and external blistering.

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.

Mike Jaega, President of DEBRA International, the umbrella organisation for a worldwide network of patient support and research funding groups working on behalf of those affected by EB, said: ‘This is without doubt an incredibly interesting trial and a positive step forward that has had remarkable results. There has been a huge amount of interest and positive awareness since this story broke into the public domain. As someone with EB, I think it should be noted that this was a trial with a Junctional EB patient and the young man had to have extensive operations and monitoring. The results of this trial are an enormous step for those suffering from Junctional EB, but that doesn’t automatically mean it will transfer to other types and subtypes of EB. We need to support the next step in this process to explore if or how this trial can help other types of EB. The fantastic thing is that all these trials are a step in the right direction; one monumental step in finding viable treatments for EB around the world.

It’s a hugely exciting time for research but we must keep our feet on the ground while we continue to reach for the stars. Gene and cell therapy trials, and even innovative ideas producing new dressings and appliances to help people with EB, are all important.

None of this research or wonderful trials to improve the lives of people living with EB could happen without your incredible support and donations. It’s a busy and exciting time in research which is why we need more help than ever!

Let’s keep fighting and please keep supporting us and your national DEBRA group because, together, we are all making a real difference. Thank you

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