First ever gene therapy gel corrects epidermolysis bullosa skin condition

Recessive dystrophic epidermolysis Bullosa is a genetic condition that causes severe skin blistering. It can be treated by injecting new collagen genes into the skin.

A rare genetic skin condition was treated with a first-ever laser. gene therapyIt is applied to your skin.

One in 800,000. Americans are born with recessive dystrophic Epidermolysis Bullosa, a severe condition that causes their skin to be extremely fragile and prone for tearing and blistering.

“It is very painful,” says Vincenzo Mascoli, 22, who travelled from Italy to the US to have the gene therapy. There were open wounds all over his body including one that covered his entire back. This had been there since he was two years old. “Sometimes I also get blisters in my eyes and have to keep my eyes closed, and sometimes I get blisters in my throat that make it difficult to eat – I can only have liquid food then,” he says.

Mascoli and others with the condition have fragile skin due to a defective version of a collagen gene. COL7A1. That means their skin can’t produce the collagen proteins needed to give it structure and strength.

Peter MarinkovichStanford University in California, and his colleagues devised a way to insert the normal. COL7A1These individuals can be genetically inserted into their skin so that they can begin producing collagen properly.

They engineered herpes simplex virus in order to deliver this vaccine COL7A1Transform genes into skin cells This virus is normally known as the cause of cold sores, but it was modified so it couldn’t replicate or cause disease. “All it does is go into the cell and deliver the gene,” says Marinkovich.

The gene therapy was then integrated into a gel that could be applied to the skin. It was then tested in a late-stage clinical trialThe US involved 31 children and adult with recessive dystrophic Epidermolysis Bullosa, Mascoli included.

To compare the results, each participant was given a gene therapy gel and an inactive one to treat their wounds. The treatment was repeated every week until the wounds healed.

After three months 71 per cent of the wounds treated with the gene therapy had completely healedThis was compared to 20% for those who received the inactive gel. There were no serious side effects.

Mascoli’s large back wound was treated with the gene therapy and it is now 95 per cent closed. “The gene therapy was very good for my back. Now, I can have a bath without it burning my skin,” he says. “I hope I will be able to use it on the rest of my body.”

Marinkovich has been working for over 25 years to develop a treatment of epidermolysis bullosa. He says it is “so nice to finally have something to offer this patient population. Up until now, they’ve had nothing, there have been no specific therapies.”

Krystal Biotech, a US company, has partnered up with Marinkovich and his co-workers to develop the gene therapy. They will apply for approval by the US Food and Drug Administration in the next few weeks to make it available for patients.

Marinkovich explains that the treatment has a major advantage in that it can be shipped anywhere, and can be used off the shelf.

The effects aren’t permanent because skin cells that take up the new COL7A1He says that genes naturally die and are replaced. Therefore, the gel should be reapplied approximately every six to twelve months.

He believes that other genetic disorders of the skin can also be treated with gene therapies. Krystal Biotech is one example. developing similar treatmentsNetherton syndrome, which can be caused by a defective gene SPINK5 genes, which causes skin to become scaly and red. This is congenital ichthyosis, which is caused by faulty genes. TGM1 Skin scaling is also caused by genes

Gene therapies are also being created for non-skin diseases like amyotrophic lateral sclerosis age-related macular degenerationHowever, these are more complex because new genes need to be injected into cells close to the spinal cord or back of the eye.

Journal reference: Nature Medicine, DOI: 10.1038/s41591-022-01737-y

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