Researchers have found that a topical gene therapy gel helps heal wounds in patients with life-threatening blistering skin disease epidermolysis bullosa (EB).
People with dystrophic epidermolysis bullosa often suffer from large open wounds that last for years or decades. It’s an intensely painful condition, and medical treatment for it has been limited largely to palliative care.
A double-blind, placebo-controlled clinical trial of a gene therapy gel developed at Stanford Medicine shows improved wound healing in 31 people with the disease, including 19 who were 18 years old or younger.
Sixty-seven percent of wounds treated with the gel, which is applied to the skin during bandage changes, completely healed after six months of weekly applications, while only 22% of wounds treated with a placebo did so.
One trial participant was Vincenzo Mascoli, aged 22. “This was a life-changing event for Vincenzo,” said Peter Marinkovich, Associate Professor of Dermatology and Director of Stanford Medicine’s Blistering Disease Clinic. “Now he can bathe and sleep on his back without pain. This treatment made a huge difference in quality of life for Vincenzo and other trial participants.”
The results of the trial, which was funded by Krystal Biotech, were published in The New England Journal of Medicine. The authors have applied to the Food and Drug Administration for approval of the gel, which is called B-VEC.
People with recessive dystrophic epidermolysis bullosa have a genetic mutation that renders them unable to make a protein called collagen VII, which binds the middle and outer layers of the skin together.
B-VEC gel uses a modified herpes simplex virus to deliver a copy of the collagen VII gene to the surface of the skin, which makes the missing protein and stabilises the skin’s structure.