Long-lasting wounds from a painful genetic skin disease can be healed with skin grafts genetically engineered from a patient’s own cells, researchers reported in The Lancet.
In severe dystrophic epidermolysis bullosa, or EB, the skin is so fragile the slightest touch – even from clothing - causes blistering and wounds, eventually leading to large, open lesions that never heal.
“With our novel gene therapy technique, we successfully treated the hardest-to-heal wounds, which were usually also the most painful ones for these patients,” study leader Dr. Jean Tang of Lucile Packard Children’s Hospital Stanford in Palo Alto, California said in a statement.
Severe dystrophic EB is caused by a defect in the gene for collagen VII, a protein that normally holds the skin together. As a result, the layers of the skin separate in response to even slight friction.
To create the personalized skin grafts, doctors take a small biopsy sample of the patient’s un-wounded skin and introduce a corrected version of the collagen VII gene to the skin cells. These cells are then grown into sheets of healthy skin.
For the late-stage study, 11 patients with recessive dystrophic EB had a total of 43 wounds treated with grafts. For each treated wound, the researchers also identified a comparable "control" wound on the same patient that was managed with traditional measures.
Six months later, 81% of treated wounds were at least half healed, compared with 16% of control wounds. Roughly two-thirds of treated wounds were at least three-quarters healed, compared with 7% of control wounds, and 16% of treated wounds had completely healed, compared with none of the control wounds.
In addition, grafted areas had less pain, itching and blistering.
The same research team had previously developed a gene therapy gel for treating smaller EB wounds.
“I hope that if these patients are diagnosed as infants and start the gene therapy gel, maybe they won’t develop big wou