The gel uses a modified herpes simplex virus to deliver copies of the collagen VII gene to the surface of the skin. This makes the missing proteins and stabilizes the structure of the skin. Herpes viruses have evolved to evade the human immune system, so gels can be applied repeatedly without triggering the immune response that hampered previous gene therapies that use other viruses to deliver corrective genes to the body.
“Repeated administration of the gel over the six months of the trial period did not show any inflammation, significant side effects, or immunoneutralization of the drug,” said Marinkovich.
Researchers hope that the modified herpesvirus results will advance gene therapy for other diseases in which genes are missing or damaged.
While previous trials were designed to show that gel-treated skin could produce collagen VII, the new trial focused primarily on wound healing, Marinkovic said. We set a goal of 100% cure within six months of treatment,” he said. “This is a high hurdle, but we have achieved our main objective very clearly.”
After the study period ended, most participants continued to receive gel treatment at home under the supervision of a physician as part of an open-label extension of the study.
Mascoli, who lives in Italy, and his parents stayed in the Palo Alto area for about nine months to participate in the trial, which ended in late 2021. Now back in his home, Mr. Mascoli, who is training to become a pharmacist, is no longer trying to get him access through a compassionate license in Italy, although Marinkovich and his colleagues are trying to get him access. can access the gel.
Mascoli, who has now stopped treatment for 10 months, said: I hope me and my other patients will soon be able to use the gel again as the pain is significantly reduced once the wound is closed. “
Marinkovich traveled to southern Italy in the late 1990s and was asked to advise a local pediatric dermatologist on how best to care for newly diagnosed children in the region. “I used to travel to Italy for a few days each year to see my doctor and spend time with my family,” Marinkovic said. “We developed a close relationship, and over the years, as my colleagues and I at Stanford University worked to understand diseases and develop treatments, I always kept them in my heart. I really wanted to do something to help people with epidermolysis all over the world.It’s a horrible disease.”
He added that the next step for the researchers is to try the gel on mucosal surfaces such as the mouth, throat, eyes, esophagus and anus, as well as on patients’ hands.
Researchers from Delaware-based Savio Group Analytics and Maryland-based Kammerman Consulting also participated in the study.
