The Perfect Package: Introducing the FDA-Approved Rub-On Gene Therapy for DEB

Monday - June 5 2023, 22:06 UTC - 1 year ago

Thousands of people in the US suffer from dystrophic epidermolysis bullosa (DEB) caused by a single gene mutation. This month, the FDA approved Vyjuvek, the first rub-on gene therapy, which directly delivers healthy copies of the gene onto damaged skin by simply massaging it onto the blisters and wounds. Results from clinical trials show an increase in wound healing and improvement in vision. This breakthrough treatment could potentially be used to treat other genetic skin conditions and open doors for further developments in gene therapy.

Sunburns are terrible. The skin blisters and peels. Even a light brush from putting on clothes or tucking into bed sheets is agony.

Now imagine having those blisters at just six months old. But the sun isn’t the culprit; your genes are.

Thousands of people in the US have dystrophic epidermolysis bullosa (DEB), a rare genetic disorder that affects the structure and integrity of the skin and eyes. Kids with the illness are cursed with skin similar to wet tissue paper. Chronic painful blisters and wounds—sometimes inside their throats—are a part of life since birth.

The root cause is frustratingly simple: one gene mutation, which affects a critical protein that helps support skin integrity. The single genetic error makes the illness a perfect candidate for gene therapy. Yet with the skin already fragile, injections—a current standard for gene therapy—are hard to tolerate.

What about a genetic moisturizer instead? .

This month, the FDA approved the first rub-on gene therapy. Similar to aloe vera for treating sunburns, the therapy comes in a gel that’s gently massaged onto blisters and wounds to help with healing. Dubbed Vyjuvek, it directly delivers healthy copies of the mutated gene onto damaged skin. An alternative version is configured into eye drops to reconstruct the eye’s delicate architecture to better support sight.

In multiple clinical trials from patients ranging from a year old to middle aged, the treatment reduced painful blisters after six months. With a massage every week, over two-thirds of the patients’ wounds completely healed, compared to just one out of five in wounds treated with a placebo. The patients’ eyesight also improved, allowing a 13-year-old volunteer to finally play Minecraft online with his teenage peers.

The therapy is the latest to expand the universe of gene therapy delivery technologies. When further developed, it won’t be limited to rare skin conditions. Because the therapy targets collagen, a critical protein that helps maintain skin structure and elasticity, the rub-on treatment could launch the next generation of moisturizers to combat fine lines and crow’s feet from aging. A subsidiary of Krystal Biotech based in Pittsburgh, which developed Vyjuvek, is already expanding into cosmetics.

It’s not all superficial. Beauty aside, the FDA nod of approval "ushers in a whole new paradigm to treat genetic diseases," said Krystal’s CEO Krish S. Krishnan.

The Perfect Package .

Vyjuvek joins a prestigious roster of approved gene therapies.

These treatments have mainly battled blood cancers and disorders. Usually, doctors need to extract immune or red blood cells from a patient’s blood. The cells are then genetically enhanced and infused back into the body. Some are amped up to pursue cancer targets. Others help boost hemoglobin in red blood cells, which carries oxygen across the body.

Unlike deeper organs, blood cells are relatively easy to access, making them a valuable resource for genetic tweaks. Just last year, one team expanded gene editing’s potential by infusing CRISPR components directly into blood, which helped brush away a toxic protein made by the liver that leads to porphryia, a rare genetic disorder.