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New gene-therapy gel shows promise for treating rare 'butterfly disease'

a photo of a child's hands, drawing a picture; the child has "butterfly disease" and their skin is visibly peeling and blistering
Epidermolysis bullosa, or "butterfly disease," is a genetic disease that causes the skin to become frail and blister easily when touched. (The individual featured in this image was not involved in the clinical trial described below.) (Image credit: Mostafameraji, CC0, via Wikimedia Commons)

A new gel that contains DNA shows promise in helping people with "butterfly disease," a condition in which the skin erupts in blisters when placed under the slightest pressure, even a light touch. 

Researchers tested this gel-based form of gene therapy in a small trial of six adults and three children with the rare inherited disease, known by the scientific name "epidermolysis bullosa," according to a statement from Stanford Medicine (opens in new tab)

Specifically, the trial participants had a subtype of epidermolysis bullosa (EB) called recessive dystrophic epidermolysis bullosa (RDEB), which means their cells lack the genetic instructions to build a protein called collagen VII. Normally, this collagen would bind several layers of skin together, thus preventing these layers from painfully rubbing against each other. In people with RDEB, these skin layers scrape past each other, and this abracsion drives the formation of blisters and chronic wounds that can remain unhealed for months or years, according to Stanford.

There are several experimental treatments for EB, which involve skin grafts and engineered stem cells with working copies of the EB-related genes, for example, Science reported (opens in new tab). Compared with these treatments, the new gene therapy is much simpler to apply, and based on the early trial results, it's "arguably the most successful [such therapy] to date," David Schaffer, a bioengineer at the University of California, Berkeley, who was not involved with the study, told Science.

The trial results were published Monday (March 28) in the journal Nature Medicine (opens in new tab).

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The gene therapy involves applying a gel-based ointment directly to patients' skin wounds. The gel contains a modified version of the herpes simplex virus 1, the herpesvirus that normally causes cold sores, according to Science. The virus in the gel has been modified such that it can no longer replicate in human cells. Instead, the virus acts as a vessel for two functional copies of COL7A1, the gene that codes for collagen VII.

During the recent trial, the researchers applied this gel to one wound on each participant over a 25-day period. They also applied a placebo gel to a different wound, for comparison. 

The wounds treated with the placebo healed and reopened or blistered again at varying rates throughout the trial, the team reported. In contrast, all but one of the wounds treated with the gene therapy closed within three months after the 25-day treatment period ended. The remaining treated wound closed and remained healed for eight months after a second round of treatment. 

Biopsies of the trial participants' skin suggested that their skin cells started making collagen VII as soon as nine days after the start of treatment, and for some, that protein production lasted for upward of three months, according to Stanford. That said, eventually, collagen VII degrades and the treated skin turns over, so in general, the gel would need to be periodically reapplied, Science reported.

"It's not a permanent cure, but it's a way to really keep on top of the wounds," trial leader Dr. Peter Marinkovich, director of the Blistering Disease Clinic at Stanford Health Care and an associate professor of dermatology at the Stanford University School of Medicine, told Science. "It significantly improves patients' quality of life."

The results of a larger trial were recently announced (opens in new tab) by Krystal Biotech Inc., one of the trials' funders, but these results haven't been published in full yet. The company plans to apply for approval from the Food and Drug Administration within the year, according to Stanford. 

Originally published on Live Science. 

Nicoletta Lanese
Staff Writer

Nicoletta Lanese is a staff writer for Live Science covering health and medicine, along with an assortment of biology, animal, environment and climate stories. She holds degrees in neuroscience and dance from the University of Florida and a graduate certificate in science communication from the University of California, Santa Cruz. Her work has appeared in The Scientist Magazine, Science News, The San Jose Mercury News and Mongabay, among other outlets.