Some stories never leave you. That's how I feel about the Stanford Medicine magazine story I wrote in 2015 about the excruciatingly painful blistering skin disease epidermolysis bullosa. The patients and researchers I interviewed were nothing short of remarkable for their courage and dedication. (You may remember that my colleague Mark Hanlon made a powerful video of one of the participants, Paul Martinez, who is pictured here.)
Now I'm happy to be able to tell you that results from the phase-1 clinical trial described in the story are in, and they look promising. Dermatologists and EB experts Peter Marinkovich, PhD, and Jean Tang, MD, PhD, published the results of the trial, which involved four adult participants today in the Journal of the American Medical Association.
As Tang said in our release:
Our phase-1 trial shows the treatment appears safe, and we were fortunate to see some good clinical outcomes. In some cases, wounds that had not healed for five years were successfully healed with the gene therapy. This is a huge improvement in the quality of life for these people.
Patients with epidermolysis bullosa lack the ability to properly produce a protein called type-7 collagen that anchors the upper and lower layers of the skin together. The slightest friction causes the layers to slide across one another and leads to blistering and open wounds. The most severe cases are fatal in infancy; others die in young adulthood from the squamous cell carcinoma that develops as a result of constant inflammation.
Tang, Marinkovich and lead author Zurab Siprashvili, PhD, grew genetically corrected sheets of skin from each patient's own cells and grafted the iPhone-sized patches back onto the patient's wounds. They then carefully monitored each graft for signs of rejection and improved wound healing. Over the course of a year they found that the grafts were able to produce functional type-7 collagen and were generally well tolerated. They also showed evidence of improved wound healing.
The researchers are now recruiting additional participants ages 13 and up for a phase-2 trial of the gene therapy treatment. From our release:
'Moving into the pediatric population may allow us to intervene before serious chronic wounds and scars appear,' said Marinkovich, who directs the Stanford Blistering Disease Clinic. Repeated rounds of wounding and scarring on the fingers and palms, for example, often lead to fusion of the skin and the formation of what’s known as a 'mitten hand.'
The success of the first phase of the trial marks the first time that skin-based gene therapy has been shown to be safe and effective in humans. But perhaps even more importantly, it represents the culmination of two decades of effort by many Stanford clinicians, researchers and affected family members who came together in a concerted effort to help people with this devastating disease. I'm proud to play even a tiny role in this endeavor by sharing the news with you.
Previously: Life with epidermolysis bullosa:"Pain is my reality, pain is my normal" and The worst disease you've never heard of: Stanford researchers and patients battle EB
Photo by Max Aguilera-Hellweg