Clinical Studies to Date
Phase 1/2a Gene Therapy for RDEB
The team at Stanford has investigated gene therapy for RDEB using a participant’s own skin cells for over 30 years. We have completed enrollment for our Phase 1/2a Gene Therapy study. This study involved taking a biopsy of the skin of a participant with RDEB, growing their skin cells in a clean room, inserting the correct gene for type VII collagen into these cells, then grafting these corrected cells onto the participant’s wounds in the operating room.
The initial results of our Phase 1 study were published in the Journal of the American Medical Association (JAMA) in November 2016. Click here to read the full text of this article.
The following images show wounds before and after treatment with these corrected skin sheets.
Briefly, a total of 7 participants underwent treatment in the Phase 1/2a clinical trial with a total of 42 wounds that received treatment. Wounds that were grafted had improved healing compared to control wounds. Treated wounds were more durable and had less pain and less itch than non-treated wounds. Expression of type VII collagen (from the gene that was inserted into skin cells) was seen up to 2 years after grafting. There were no severe adverse events in the study.
We are anticipating starting a Phase 3 study later this year. When that study begins enrollment, we will list it on this website.
For more information about our clinical trials and research studies, please click here, or on the Current Studies tab on the left.
Link to clinicaltrials.gov page for Phase 1/2a Gene Therapy Study: https://clinicaltrials.gov/ct2/show/NCT01263379
For information about your rights as a research participant, please contact the Stanford Institutional Review Board (IRB) at (650) 723-5244 or toll-free at 1-866-680-2906.
Timeline of EB Research at Stanford
1988: Bullous Disease Clinic established at Stanford
1993: Genetic basis of EB characterized
1996: First use of gene therapy in mice to correct EB mutations in human skin
2003: Pre-clinical studies of gene therapy for RDEB in a mouse model
2009: Approval from Food and Drug Administration (FDA) to start Phase 1 clinical trial
2009: Initial development of clean room at Stanford for gene therapy graft manufacture
2012: Approval from Stanford Institutional Review Board for Phase 1 clinical trial
2013: First RDEB participant receives genetically corrected skin grafts in Phase 1 trial
2016: Results of Phase 1 gene therapy clinical trial published in JAMA
2016: Breakthrough Therapy status awarded by the FDA to RDEB Gene Therapy Trial
Completed EB Clinical Trials
The dermatology team at Stanford has conducted many clinical trials for EB in additon to the Phase 1/2a gene therapy study. Some have been sponsored by pharmaceutical or biotechnology companies. A selection of these studies are listed below.
EB patients often have severe itch, which leads to scratching, which can worsening wounds. We first investigated how much of a problem itch is in EB patients. We administered a survey and published two articles about itch and EB. The first describes how itch affects EB patients. The second describes different treatments that EB patients use for itch.
We then tried to find new treatments for itch. We investigated a medication called serlopitant for itch in a small pilot study. Results of that study are available here on clinicaltrials.gov and are in press in the Journal of the American Academy of Dermatology.
We are currently conducting a larger study using serlopitant for itch, which is actively enrolling new participants.
National EB Registry
Stanford was one of the sites of the National EB Registry, headed by Dr. Fine at Vanderbilt from 1986 until 2002. Dr. Marinkovich served as the Stanford site investigator. This study was instrumental in learning about the effects of EB over time.
Stanford participated as a site in the studies of Zorblisa (also known as SD-101 cream). Results of these studies are available on clinicaltrials.gov:
Phase 2b study: https://clinicaltrials.gov/ct2/show/NCT02014376
Open Label Study for Phase 2b: https://clinicaltrials.gov/ct2/show/NCT02090283
Phase 3 study (with results): https://clinicaltrials.gov/ct2/show/NCT02384460
Open Label Study for Phase 3 (with results): https://clinicaltrials.gov/ct2/show/NCT02670330
Previous Studies of Wound Dressings
Type I Collagen Dressing Study
Link to publication: https://www.ncbi.nlm.nih.gov/pubmed/25557742
Link to clinicaltrials.gov: https://clinicaltrials.gov/ct2/show/NCT01716169
Link to clinicaltrials.gov: https://clinicaltrials.gov/ct2/show/NCT00587223
Link to clinicaltrials.gov: https://clinicaltrials.gov/ct2/show/NCT01749306
Support EB Research
Your support will help us accomplish our goal to ease the suffering of EB patients much sooner. To make a donation now, please click on the button above.
If you wish to mail a donation, the addresses are listed below. Please make checks payable to “Stanford University” with a note designating your gift to the area of your choice.
Please make checks payable to “Stanford University” with a note designating your gift to the area of your choice.
P.O. Box 20466
Stanford, CA 94309
For More Information, Please Contact Development:
Kat Walsch, Senior Associate Director of Major Gifts
Medical Center Development
Phone: 650.724.9860 or Cell: 650.785.4511