Genetic Testing for Dystrophic Epidermolysis Bullosa Patients

Status: Open / Recruiting


Clinical diagnosis of recessive dystrophic EB, or an unclear clinical diagnosis of recessive DEB vs dominant DEB, with or without prior confirmatory genetic testing performed

About the clinical trial:

Stanford University is currently conducting a study that will look at the genetic mutations of people with EB along with information collected from a survey to better understand why some people with EB are more likely to develop certain symptoms.

If you decide to participate in this study, you will either be mailed a kit and asked to provide a buccal swab sample for genetic testing., or be asked to provide your previous genetic testing results.

A buccal swab is a sponge-like applicator (similar to a cotton swab) that is rubbed inside your cheek to collect DNA from the cells inside your mouth. This is a relatively non-invasive and painless way to collect your DNA for testing.

You will also be asked to complete a one-time survey about your EB. Please be sure to allocate enough time to complete all surveys as you will not be able to close the survey and return to complete at a later time.

This study does not require travel to Stanford. There is no cost to participate in this study. The study is expected to take 2 hours of your time, and results of the genetic testing will be returned to you in approximately 2 months.

This study is funded by the Epidermolysis Bullosa Research Partnership.

To participate, please complete the study forms and survey here:


Study Coordinator: Jaron Nazaroff,, 707-738-4755  

For participant's rights questions, contact 1-866-680-2906.