A team of Stanford researchers has demonstrated that grafting sheets of genetically corrected skin improves wound healing for patients with one of the most painful of diseases, recessive dystrophic epidermolysis bullosa. The phase-1 clinical trial marks the first time that skin-based gene therapy has been shown to be safe and effective in patients.
People with the disease don’t properly produce type-7 collagen, which anchors the upper and lower layers of the skin together. As a result, the layers slide across one another upon the slightest friction, creating blisters and open wounds.
The skin grafts do not cure the disease, but may be able to head off complications such as scarring that can result in fused fingers or inflammation that can lead to squamous-cell carcinoma. “Even a small improvement in wound healing is a huge benefit to the health of these patients,” says Jean Tang, MD, PhD, who shares senior authorship of the study with fellow Stanford associate professor of dermatology Peter Marinkovich, MD.
Four adult patients each received six grafts grown in the lab from their own skin cells, into which a corrected version of the type-7 collagen gene had been inserted. At three months, 21 of the 24 skin grafts were intact, and 12 remained so at 12 months. The researchers detected expression of the type-7 collagen protein in nine of 10 tissue biopsies at three months, and five of 12 at one year.
The study was published in November 2016 in JAMA.