Today’s Solutions: July 24, 2024
What is butterfly disease?

The rare disease known as epidermolysis bullosa (EB) is a genetic condition that causes the skin to be extremely fragile. Even the slightest touch can tear it, leaving people with wounds that never heal and even resulting in skin cancer. This gives EB its name “butterfly disease,” as the patient’s skin is as delicate as the wings of a butterfly.

There is no cure for severe forms of EB, and it can be fatal, normally resulting in death at a young age. Currently, the only treatment available involves stem cell skin grafts, though this is invasive and expensive.

However, a team from Stanford University has just changed that by creating a gel that provides a cheaper and easier relief for people impacted by the condition. The treatment can be easily incorporated into wound dressings, allowing for at-home application and treatment.

How does the gel work?

The gel contains a therapeutic gene that EB patients typically lack. When applied, it inserts itself into the skin cells allowing them to function regularly. This method of gene injection essentially mimics stem cell transplants, though much more easily and accessible to patients.

This gene codes for the protein collagen VII (C7). Its role is to anchor components of human skin together, namely the dermis and epidermis, adding strength to its structure. The gene treatment targets the area to which it’s applied, meaning only the problematic skin cells will produce C7 while the rest of the body functions as normal.

How successful is the treatment?

Clinical trials have been a success so far, showing the gel is capable of producing C7 to promote skin integrity as early as nine days into treatment. One patient reported that their five-year-old wound finally healed after a six-month treatment cycle. The results also show the gel can be used as a preventive treatment if used early enough, reducing the risk of skin tearing and scarring which can reduce the risk of skin cancer.

“The wounds heal quickly but, even more importantly, they stay closed,” said dermatologist Peter Marinkovich in a press release. “The therapy strengthens the skin and breaks the painful and destructive cycle of wound opening and closing that patients with epidermolysis bullosa experience.”

The team’s work was recently published in Nature Medicine. They suspect their product will be clinically approved soon and can then go on to help thousands more people who suffer from this devastating disease.

Source study: Nature MedicineIn vivo topical gene therapy for recessive dystrophic epidermolysis bullosa: a phase 1 and 2 trial

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