Berlin, Nov 11 (PTI) In a first, scientists havesuccessfully treated a child suffering from extensive skindamage due to a genetic disease using transplants derived fromgenetically modified cells.
The boy suffers from epidermolysis bullosa, a geneticskin disease that had destroyed about 80 per cent of theoutermost layer of his skin.
After all established therapies had failed, the medicalteam from at the Ruhr-Universitat Bochum in Germany andUniversity of Modena in Italy decided to try an experimentalapproach.
They transplanted skin derived from genetically modifiedstem cells onto the wound surfaces.
Thanks to the successful therapy, the boy is now - twoyears after the treatment - able to participate in hisfamily's life and social life.
Epidermolysis bullosa is the scientific name of acongenital skin disease that is currently considered to beincurable.
Its underlying mechanism is a defect in protein-forminggenes that are essential for skin regeneration. Even minorstress can result in blisters, wounds, and skin loss with scarformation.
Depending on disease severity, internal organs maylikewise be affected, leading to critical dysfunctions.
The disease significantly reduces the patients' qualityof life; often it is also life-threatening.
By the time, seven-year-old Hassan was admitted to thepaediatric intensive care unit at Katholisches Klinikum Bochumin June 2015, 60 per cent of his epidermis was lost.
"He suffered from severe sepsis with high fever, and hisbody weight had dropped to a mere 17 kilogrammes - a life-threatening condition," said Tobias Rothoeft, Consultant atthe University Children's Hospital at Katholisches KlinikumBochum.
Due to the poor prognosis, doctors opted for anexperimental therapy: the transplantation of geneticallymodified epidermal stem cells. The cells were obtained fromthe patient via skin biopsy.
The transplants were applied to the boy's arms and legs,entire back, flanks, and partially to the stomach, neck andface as well.
"Overall, 0.94 square metres of transgenic epidermis weretransplanted onto the young patient in order to cover alldefects, accounting for 80 per cent of his entire bodysurface," said Tobias Hirsch, head consultant at thedepartment of plastic surgery.
Following the first transplantation in October 2015, thepatient's condition began to improve. The transgenic stemcells formed a new epidermis with intact binding proteins inall transplanted areas.
The integration of the intact gene through retroviralgene transfer into the genome of the epidermal stem cells hadbeen successful and was proven to be stable.
In February last year, the patient was discharged. Today,almost two years after the experimental therapy was initiated,high-quality, stress-resistant skin with intact hydrolipidfilm, as well as early formation of hair, researchers said.
No scar contractures have appeared in transplanted areas.
Hassan is attending school again and is actively taking partin his family's social life, they said. PTI MHNMHN.
This is unedited, unformatted feed from the Press Trust of India wire.
