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Epidermolysis bullosa, transplanted skin derived from genetically modified stem cells


Researchers at the Ruhr-Universität Bochum's burn unit ( Germany ) and the Center for Regenerative Medicine at the University of Modena ( Italy ) were the first ever to successfully treat a child suffering from extensive skin damage using transplants derived from genetically modified stem cells.
The boy is a so-called butterfly child: he suffers from epidermolysis bullosa, a genetic skin disease that had destroyed approximately 80% of his epidermis.
After all established therapies had failed, researchers from Bochum decided to try an experimental approach: they transplanted skin derived from genetically modified stem cells onto the wound surfaces.
Thanks to the successful therapy, the boy is now - two years after the treatment - able to participate in his family's life and social life.

The report is published in Nature.

Epidermolysis bullosa is the scientific name of a congenital skin disease that is currently considered to be incurable.
Its underlying mechanism is a defect in protein-forming genes that are essential for skin regeneration.
Even minor stress can result in blisters, wounds, and skin loss with scar formation.
Depending on disease severity, internal organs may likewise be affected, leading to critical dysfunctions.

The disease significantly reduces the patients' quality of life; often it is also life-threatening.

By the time seven-years-old boy was admitted to the paediatric intensive care unit at Katholisches Klinikum Bochum in June 2015, 60% of his epidermis was lost.
He suffered from severe sepsis with high fever, and his body weight had dropped to a mere 17 kilogrammes, a life-threatening condition.
All conservative and surgical therapy approaches failed.

Due to the poor prognosis, the Bochum-based team of paediatricians and plastic surgeons, in collaboration with Michele De Luca from the Center for Regenerative Medicine at the University of Modena, opted for an experimental therapy: the transplantation of genetically modified epidermal stem cells.
Obtained from the patient via skin biopsy, these stem cells were processed in Modena.
The researchers transferred the intact gene into acquired stem cells.
During this process, so-called retroviral vectors were deployed, i.e. virus particles that had been specifically modified for gene transfer.

The genetically modified stem cells had been cultivated in a clean room laboratory and subsequently turned into transgenic transplants.
After obtaining the parents' permission, authorities' approvals and certification of the operating rooms at the Bergmannsheil as genetic engineering facility, the transplantation went ahead.

At the Department of Plastic Surgery at the Bergmannsheil, the transplants were applied to the boy's arms and legs, entire back, flanks, and partially to the stomach, neck and face as well.
Overall, 0.94 square meters of transgenic epidermis were transplanted onto the young patient in order to cover all defects, accounting for 80% of his entire body surface.

Following the first transplantation in October 2015, the patient's condition began to improve. The transgenic stem cells formed a new epidermis with intact binding proteins in all transplanted areas. The integration of the intact gene through retroviral gene transfer into the genome of the epidermal stem cells had been successful and was proven to be stable.

In February 2016, the patient was discharged. Today, almost two years after the experimental therapy was initiated, high-quality, stress-resistant skin with intact hydrolipid film, as well as early formation of hair. No scar contractures have appeared in transplanted areas.
The boy is attending school again and is actively taking part in his family's social life. ( Xagena )

Source: Ruhr-Universität Bochum, 2017

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