CHICAGO — A promising local trial has hope for a potential breakthrough for broken skin.
Epidermolysis Bullosa is a rare and painful genetic condition that produces fragile skin blisters and tears easily with only minor friction. Now, doctors are testing a first-of-its-kind gene therapy designed to produce what patients are missing.
“You already have to be careful with kids, but with Noah, you have to be very careful,” said mother Desiree Cunningham. “His skin is very fragile, even a diaper change could rip his skin, or changing his clothes could blister his skin.”
In the four decades Lurie Children’s dermatologist Dr. Amy Paller has treated patients with “EB,” she hasn’t been able to offer an effective treatment.
“We still have primarily wound care and management of pain,” she said. “Infection is the big issue and primarily the big issue when the kids are younger because it doesn’t take much to have an area without skin that then gets infected, and that infection can easily go to the bloodstream.”
However, the hospital is undergoing a trial to combat the disorder with a topical treatment.
The gel-like substance contains the normal gene that makes collagen 7 — a protein absent or insufficient in “EB” patients.
Once the gene therapy is applied, the skin cells begin producing the missing protein.
“It’s done by basically turning the skin into a factory that produces the normal collagen 7,” Dr. Paller said.
Mother Desiree Cunningham said in the four weeks Noah has been part of the trial, she has seen progress.
The study is an open-label trial in which every participant receives the actual product. In the long-term, patients would require regular topical applications to keep up with the natural turnover of skin cells.
Dr. Paller expects the FDA to approve the treatment soon.
