Epidermolysis bullosa (commonly known as the “butterfly disease”) is a rare genetic disease that doesn’t have an approved treatment so far, but that could soon change due to a new gene therapy.
Live Science brings the exhilarating news for those who have to deal with the terrifying disease in question: a late-stage trial has shown very promising results in overcoming the disease’s effects due to a new gene therapy gel that contains DNA and is known as beremagene geperpavec (B-VEC). The Food and Drug Administration (FDA) is now expected to give its approval for the usage of the new technique in overcoming the “butterfly disease,” which means that the world has plenty of reasons to be optimistic.
Overcoming dystrophic EB
Dystrophic EB is the moniker of the specific subtype of the butterfly disease that the new gene therapy can treat. Mutations occurring in the COL7A1 gene are causing the condition. The new B-VEC gene therapy is able to provide copies of the gene directly to the affected skin. B-VEC also contains a modified version of the cold sore virus that’s unable to multiply in human cells.
Twenty-eight patients participated in the new potentially revolutionizing trial, and they were exposed to the B-VEC gene therapy over the course of six weeks. A placebo gel was also used to treat another wound of a similar size.
It has been concluded that the majority of those treated with the B-VEC have been cured completely after three months. That means 71% of the patients, to be more precise. At the same time, only 20% of those treated with a placebo managed to become healed.
The researchers are very clear in their new study, as an official quote says:
We conducted a phase 3, double-blind, intrapatient randomized, placebo-controlled trial involving patients 6 months of age or older with genetically confirmed dystrophic epidermolysis bullosa. For each patient, a primary wound pair was selected, with the wounds matched according to size, region, and appearance.
“A devastating disease”
Even scratching, rubbing, or heat can cause blisters on the skin in the case of those affected by the “butterfly disease.” Minor injuries can also lead to blisters. Such blisters can even occur inside the body in some severe cases of the disease.
Epidermolysis bullosa is also a disease that can be inherited, and it can usually show up in the case of infants and children. However, some people only develop symptoms when they’re teenagers or young children.
David Schaffer, who’s the director of the University of California’s Berkeley Stem Cell Center and of QB3-Berkeley, explained in an email to Live Science:
This is a devastating disease with minimal current treatment options, and the gene therapy clearly accelerated the healing of patient wounds,
This study is consistent with prior reports on this therapy, though the longer timeframe of the study show[s] that the effect on individual wounds is durable for at least 6 months. This was a very successful study.
Before the new technique, all that doctors could do in the case of people suffering from the disease was to treat the blisters as they appeared on the affected parts of the skin. The patients had to go through a painful process of getting their skin wounds cleaned up, getting them covered in ointments and dressings, as well as having to change out the dressings every day. If wounds remain open, which often happens in the case of patients suffering from the “butterfly disease,” those people become susceptible to infections that could even kill them someday, as well as to skin cancer.
Even the slightest pressure on the skin of a person who suffers from the ‘butterfly disease’ could cause bubbling up in blisters.
The new findings were published in the New England Journal of Medicine.