Dystrophic epidermolysis bullosa, this bullous skin disease that sounds awkward and incomprehensible, is actually a rare hereditary bullous skin disease, which is not only life-threatening, but also makes patients suffer continuously. Years or decades of affliction with large open wounds, but unfortunately, the current treatment options for this extremely painful condition are palliative care.
People with recessive dystrophic epidermolysis bullosa have a mutation in the COL7A1 gene that prevents them from making a protein called collagen VII, which holds the middle and outer layers of the skin together. In the absence of this protein, these layers of skin slide against each other, causing blisters to develop in very painful open wounds that are vulnerable to infection and skin cancer, often killing patients in early adulthood.
Recently, good news has come from Stanford Medicine. have developedGene therapyGel, tested on people with blistering skin conditions to help with wound healing. A double-blind, placebo-controlled clinical trial showed improved wound healing in 31 patients, 19 of whom were 18 years of age or younger; in wounds treated with gel applied to the skin at bandage changes, 67% healed completely after six months with weekly use.
Dr Peter Marinkovich, senior author of the research team, said: ‘This study was a life-changing event for many of the patients involved in the trial, as they could now bathe and sleep on their backs without pain, a huge improvement in quality of life.”
B-VEC gel aids in the delivery of the missing collagen to produce the missing proteins
This study was previously published in The New England journal of medicine＞, and recently published in＜Medicine of Nature> The above results were consistent in a previous small study of 9 patients. The study is the first to show that a gene therapy vector for a skin disease can be effectively applied topically to affected areas and is the first gene therapy study in children with epidermolysis bullosa.
Beremagene geperpavec gel (B-VEC) is a topical herpes simplex virus type 1 (HSV-1) gene therapy designed to restore C7 protein by the delivery of COL7A1. A modified herpes simplex virus is used to carry a replicated collagen VII gene to the skin’s surface, which produces the missing protein and stabilizes skin structure. Because the herpes virus evolved to evade the body’s immune system, the gel can be reused without triggering an immune response that has hindered previous gene therapies that used other viruses to deliver corrective genes to the body.
B-VEC gel, if approved, would be the first topical gene therapy approved in the United States
The study found no obvious inflammatory, side effects, or immune-neutralizing effects of the drug, even when the gel was reused within six months of the trial period, the research team said. At the end of the trial period, most participants continued to receive the gel treatment at home under medical supervision. They also hope that the results of the herpes virus improvement will lead to gene therapy for other diseases in which genes are missing or damaged. In the next step, they will try the gel on patients’ hands, as well as mucous surfaces such as the mouth, throat, eyes, esophagus and anus. Longer and larger studies are needed to determine the persistence and side effects of B-VEC in this disease.
References:
https://www.nejm.org/doi/full/10.1056/NEJMoa2206663
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