Gene therapy helps child regrow 80% of skin

pharmafile | November 9, 2017 | News story | Medical Communications, Research and Development biotech, drugs, gene therapy, pharma, pharmaceutical, stem cell 

A young child has been brought back from the verge of death after an experimental combination of stem cell and gene therapy procedures managed to repair his badly damaged skin.

When the seven-year-old boy entered a German hospital, he had lost 60% of his skin and, as his condition deteriorated, this soon became 80%, leaving doctors out of options for a treatment for the boy.

In fact, the doctors were considering palliative steps, as the condition, junctional epidermolysis bullosa or ‘butterfly skin’, had left its skin so fragile that it had left his body covered with blisters and wounds. The condition means that his epidermis was unable to attach properly to the dermis, the next layer beneath.

The doctors had tried other options, such as a transplant of his father’s, but with these failing, they doctors approach Professor Michele De Luca, of the University of Modena. De Luca had conducted small, experimental replacement of skin in isolated areas – but never in cases where so much skin needed to be replaced.

De Luca’s work involves taking a sample of healthy skin from the individual and then using a virus to remove the relevant gene defect, in this case, known as LAMB3. Once this is achieved, growing larger stretches of the skin and then applying them to the skin through surgery is the next step.

In such an experimental procedure, it was unknown whether this would work successfully but only a month after the operation the boy was able to stand. From there, the boy went from strength to strength and is now healthy life, able to play sports and experience mild damage to the skin, such as cuts or bruises, without any lasting damage.

The major worry for this kind of treatment is the potential for cancer-causing defects to have been introduced into the genetic information of the skin; however, in subsequent tests during follow-up by De Luca, most of the skin introduced during the transplant had been renewed by the body – leaving little trace of the work performed by surgeons; though De Luca had mentioned that he would keep an eye on the boy’s condition as he continued through life.

The next stage for such treatment would be to enter clinical trials to determine whether the same procedure could be used to help patients with similar skin conditions. The long-term health outcomes would need to be measured but, if the young boy’s example holds true, it looks like the treatment could hold life-long benefit.

Ben Hargreaves

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