Butterfly Disease and Gene Therapy

Butterfly Disease, or Epidermolysis bullosa, is a condition that causes blistering skin from even small impacts. Butterfly Disease is inherited, caused by multiple gene mutations. The most common mutation that causes Butterfly Disease is the alteration of the genes that encode for keratin, a protein that gives strength to the outer skin, protecting it from scratches or other irritations. Another mutation that can also cause Butterfly Disease is the alteration of the genes that encode for plectin, a protein that attaches the top layers of skin to the bottom layers of skin. Overall, Butterfly Disease is very painful as one’s skin is highly sensitive to even the slightest touch. Blisters and scarring mar the skin of babies affected by Butterfly Disease, doctors unable to find cures for this gruesome genetic condition. However, strides have been made to treat Butterfly Disease and make its symptoms less apparent. One such treatment is proving effective, building on the basis of gene therapy.

In May 2023, Beremagene geperpavec (B-VEC) therapy was approved by the U.S. Food and Drug Administration to be administered to individuals with Butterfly Disease. The therapy specifically focused on mutations in the COL7A1 gene which encoded for the protein type VII collagen, a protein with functions similar to plectin. Using a viral vector, Beremagene geperpavec, scientists were successfully able to insert the correct version of the COL7A1 gene into the patient’s skin cells. It is important to note that Beremagene geperpavec was heavily modified in order to be suitable to the patient’s needs and not cause any side effects. Gene therapy requires extensive testing and trials before it is brought to the market, especially when viruses are involved.

Beremagene geperpavec (B-VEC) therapy was a huge success due to its non-invasive application and effectiveness. Patients only need to apply a cream onto their skin and await positive results. A trial conducted by NIH showed that individuals who used the Beremagene geperpavec (B-VEC) therapy had 67% of their wounds healed on average compared to the mere 22% of wounds healed in individuals who were given the placebo medicine. Overall, the positive effects of Beremagene geperpavec (B-VEC) therapy are tremendous, many individuals who were once affected by Butterfly Disease, now no longer in pain.