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.

Depiction of the process used in our Phase 1/2a Gene Therapy Clinical Trial

Sheets of corrected RDEB skin. The ones on the left are ready to be grafted. 


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.

RDEB Wounds Treated with Corrected Skin Grafts in Phase 1 Study

Long term data (following participants for up to 5 years after grafting) on the Phase 1/2a study was recently published. Click here to read the article.

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.


Itch Studies

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.


Zorblisa Studies

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

Apligraf Study

Link to clinicaltrials.gov: https://clinicaltrials.gov/ct2/show/NCT00587223

Dermagraft Study

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.

Stanford University
Development Services
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
Email: kwalsch@stanford.edu