Donor Support Advances New Treatment for EB, a Rare and Painful Skin Disease

Families living with one of the most debilitating skin conditions now have more reason for hope. Recently, a phase 3 clinical trial showed that gene therapy skin grafts significantly helped patients with epidermolysis bullosa (EB). The results, published in The Lancet, show the vital role that researchers at the Stanford School of Medicine played in developing the new treatment. 

Increased public awareness and generous donor support were also instrumental in fueling this breakthrough. At the forefront is Jean Y. Tang, MD, PhD, professor of dermatology who treats children with EB at Lucile Packard Children’s Hospital Stanford. The skin grafts were granted approval from the U.S. Food and Drug Administration on April 29. They will be available at five hospitals across the country, including Packard Children’s Hospital where Joyce Teng, MD, PhD, professor of dermatology, will collaborate on their use with surgeons and anesthesiologists: H. Peter Lorenz, MD, Rohit Khosla, MD, FACS, and Louise Furakawa.  

“Philanthropy has played a significant role in propelling research at Stanford toward new therapies to treat EB,” says Tang, who co-authored the study. “Since the time I started as a researcher in this field 10 years ago, we have learned a tremendous amount about this disease and now have an exciting new FDA-approved therapy. We will continue our efforts to accelerate treatments and to eventually find a cure.”  

Up to 5,000 people in the U.S. have EB—most are children due to the reduced life expectancy associated with the disease. The condition is caused by a defect in the gene for collagen VII, an essential protein that anchors the upper and lower layers of the skin. Patients with severe EB have skin so sensitive that the slightest touch can lead to blistering and, eventually, large, open wounds that never heal, causing immense pain.  

Twenty-year-old Charlotte Brown of Birmingham, Alabama, experiences much less pain from EB than before she joined the phase 3 trial in 2021. The genetically engineered grafts she received in the trial have greatly reduced the severity of several chronic wounds. She is even able to hold down a job she loves—as a pharmacy technician.  

“It’s honestly life-changing,” Brown says. “I feel so much better.” 

Brown is one of 11 who participated in the study, most of whom received the gene-therapy sheets at multiple sites on their skin. 

The new treatment involves taking a small biopsy from the patient’s unwounded skin and using a virus to deliver a healthy copy of the mutated gene into the patient’s skin cells in the laboratory. The genetically engineered cells are grown into sheets of skin that are roughly the size of a credit card. The treated skin cell sheets are then surgically grafted onto the patient’s non-healing wounds. This cell therapy provides a long-term source of type VII collagen and heals the patient’s chronic, painful wounds.  

“When you see patients living with EB and how debilitating the disease is, you will do everything in your power to help them,” says Anthony Oro, MD, PhD, co-director and co-founder of the Center for Curative and Definitive Medicine (CDCM) and the Eugene and Gloria Bauer Professor of Dermatology. “Now we have a solution that can permanently repair their damaged skin.” 

It didn’t happen overnight. Gene Bauer, MD, now a professor emeritus of dermatology, brought EB research to Stanford more than 20 years ago and assembled a team of researchers, which eventually resulted in this breakthrough. The skin grafts were first tested in a phase 1 clinical trial led by Alfred Lane, MD, now a professor emeritus of dermatology, and Peter Marinkovich, MD, associate professor of dermatology. Additional support came from Senior Staff Scientist Zurab Siprashvili and Paul Khavari, chair of the Department of Dermatology, who were committed to developing this therapy from cells, to mice, and to patients. 

Fast-forward to 2017 when the CDCM was founded with the mission to translate discoveries from the bench to bedside. Tang, a CDCM investigator, started her phase 3 clinical trial a few years later. The skin grafts are the first FDA-approved product to emerge from the CDCM, marking a major milestone for the institution. 

Their discovery could lead to even bigger breakthroughs. Beyond EB, the treatment could bring insights that enable Stanford to address other genetic diseases—where a single gene is at fault—including cystic fibrosis, cardiovascular diseases, neurodegenerative diseases, and hereditary cancers.  

“Any success, any treatment, any cure in EB will open the floodgates and the possibility to treat other complex genetic diseases,” says Tang. “EB is going to be the leader in genetic therapies!”  

Philanthropy has played a crucial role throughout this journey. Donor support was instrumental in launching the phase 1 clinical trial, which showed the initial promise and helped attract larger investors, including Abeona Therapeutics, Epidermolysis Bullosa Medical Research Foundation, and the EB Research Partnership. Building on this momentum, the family of philanthropist Bowei Lee recently made a significant gift in his honor to advance research on EB and rare diseases.   

It’s also a time of growing awareness for EB, driven by celebrities such as Eddie Vedder of Pearl Jam. His new documentary, Matter of Time, which follows his first solo tour, along with stories of people impacted by EB and Tang’s research journey, premiered earlier this month at the Tribeca Film Festival.