It’s always heartening to see scientists take up research in therapeutic areas that are under served and poorly understood. And when their research yields positive results, it’s downright amazing.
Honestly, “amazing” may be downplaying what a team of researchers at Stanford University have done in a phase I clinical trial for patients with epidermolysis bullosa.
First, some background: epidermolysis bullosa is a genetic skin disease that is exceptionally rare and exceptionally terrible. Patients with the disease are unable to create type-7 collagen, which is a protein that binds layers of skin together. Without this connection, the layers slide, tear, and blister easily. These open wounds heal slowly.
Unfortunately, the odds of survival are not good: In the worst cases, patients die in infancy. Those who survive longer typically succumb to squamous cell carcinoma by the time they’re young adults. This is a direct result of their body’s non-stop struggle to heal.
To date, treatment has focused on making patients comfortable and trying to prevent wounds. The Stanford study, though, could mark the beginning of a remarkable new treatment paradigm: Skin grafts grown from samples of the patient’s own skin and genetically “tweaked” to produce the missing type-7 collagen.
As part of the study, researchers worked with four adult patients and created 24 skin grafts. Over the next year, they performed biopsies of the grafted tissue at regular intervals to gauge wound healing and continued production of the type-7 collagen. All four patients were able to tolerate the grafts.
Researchers found that some of the grafts continued producing type-7 collagen after a year, and that there were corresponding improvements in wound healing over the same period.
While the improvements were not consistent—the number of grafts that continued healing wounds and producing type-7 collagen declined by the end of the trial period—they do represent something that has been in scant supply for epidermolysis bullosa patients: an improvement.
And in a disease like this, even modest improvements can represent a huge shift in quality of life and future health outlook.
There’s still a lot more work to be done; the four patients in the trial will continue to be monitored to see how the grafts hold up through the rest of their lives. But researchers are eager to start work on a phase-II trial that will include teenagers as young as 13. Here’s to their continued success and what that success means to the brave epidermolysis bullosa patients who could really use some hope.
Go here to read more about the results of the clinical trial and to find out how to get involved in the phase II trial!
