The gel that could be the cure for people with rare butterfly skin disease

Epidermolysis bullosa (EB) is an inherited condition that makes skin so fragile that it can tear at the slightest touch, like the wings of a butterfly.

This disease causes, among other things, blisters on the skin and constant rupture of tissues. It regularly affects children, and with age it can improve, but there is no cure for severe cases that can ultimately be fatal.

That's why scientists celebrated the development of an incredible new gel that has proven to help close the wounds associated with this rare skin disease.

Although treatments already existed, they focused on the use of stem cells, an invasive technique that requires skin grafts, entailing high costs that make them inaccessible to many.

This is why the gel developed by researchers at Stanford University is not only an innovative solution for those suffering from the disease, but much more economical.

The topical gel can be applied during regular wound dressing and contains a therapeutic gene that is spread directly on the skin. The treatment works by replacing the gene that codes for collagen VII (C7), which is a protein that is missing in people with dystrophic recessive epidermolysis bullosa (RDEB).

This particular collagen anchors the fundamental structure of human skin, keeping the dermis and epidermis together.

Without C7, patients with RDEB spend their lives dealing with painful blisters, scarring, and sometimes even skin cancers.

Instead of grafting new skin into these patients, gel treatment 'injects' genetically modified fibroblasts directly into the skin, and does so through the cold sores virus, herpes simplex type 1 (HSV-1).

HSV-1 is able to infect skin cells and can evade our immune system. After genetically modifying the virus so that it cannot replicate and spread to other parts of the body, the researchers used HSV-1 to transport two genetic variants that encode C7 into the skin.

Once it is on the skin, clinical trials demonstrated that topical treatment promotes skin integrity and robust expression of C7.

“Taken together, we demonstrate here a novel, easy-to-administer and highly accessible gene therapy capable of reversing genetic disease through repeated application directly to the patient's skin wounds,” the authors write in a new study.

If used early enough in the wound process, the gel has the potential to stop further tears and scarring of the skin, thereby reducing the risk of developing skin cancer and prolonging the life of patients.

Other researchers have tried to make similar gels, but this is the first to pass rigorous clinical tests with great success.

When applied to the wounds of nine patients with RDEB older than six years, the gel showed remarkable results in randomized placebo-controlled trials.

After three months and three doses, all wounds that received the gel healed and closed. A few weeks after that, the wounds were still closed.

Meanwhile, the placebo-treated wounds continued to heal and then blistered again in a vicious and painful circle.

The study published in the journal Nature highlighted that only two wounds in the trial did not heal completely after three months of applying the gel. One wound had been bothering a patient for about five years, but after a second three-month course of treatment, the lesion closed and remained healed for eight months.

Another wound that had persisted for four years and covered most of a patient's side healed 70 percent with the help of the gel.

Biopsies from all patients revealed that the gel began to trigger collagen production nine days after the trial.

Even better, there were no serious adverse side effects caused by the ointment, and it worked similarly for all age groups and genders.

“Wounds heal quickly, but most importantly, they remain closed,” says Stanford University dermatologist Peter Marinkovich.

“The therapy strengthens the skin and breaks the painful and destructive cycle of opening and closing wounds experienced by patients with epidermolysis bullosa,” he added.

Phase III clinical trials are now complete and, although the results have not yet been formally published, the company that funded the research, Krystal Biotech, has shared some of the initial results.

Of the 31 patients enrolled in the trial, 67 percent of wounds treated with the gel for six months showed complete healing. In the same period of time, placebo healed only 22 percent of the wounds.

“We didn't see any problems with the repeated administration of the gel, and the patients and their families were very excited about the results,” says Marinkovich.

“I am thrilled that, if the Food and Drug Administration approves its clinical use, we will be able to reach many more patients with this devastating disease,” he concluded.

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