Epidermolysis Bullosa Clinical Characterization and Outcomes Database

Epidermolysis Bullosa Clinical Characterization and Outcomes Database is sponsored by Epidermolysis Bullosa Medical Research Foundation. Supports the creation of a comprehensive database for EB clinical characterization and outcomes.

Consortia - EB Research Partnership Scientific Advisory Board EBRP fosters collaboration among research institutions to speed the path to #healEB. Two of our initiatives, the EB Clinical Research Consortium (EBCRC) and the EB iPS Cell Consortium EB Clinical Research Consortium epidermolysis bullosa clinical research consortium (EBCRC) The EBCRC's mission is to advance care and improve outcomes for patients with EB.

The EB Research Partnership helped to found and fund the EBCRC in conjunction with a group of leading North American pediatric dermatologists. The consortium has expanded to become an international collaborative research group comprised of leading clinical researchers in the field of Epidermolysis Bullosa.

The vision of the EBCRC is to be an internationally-recognized collaborative group conducting high-quality clinical and translational research aimed at improving the diagnosis, manifestations, complications, and treatment of EB.

By working collaboratively, the leading clinicians and researchers in the field of EB multiply the power of their individual efforts, enabling them to tackle important questions and gaps in knowledge and treatment for this devastating disease. The EBCRC is led by Dr. Anna Bruckner at Children’s Hospital Colorado (affiliated with the University of Colorado School of Medicine).

Other members are leading physicians and researchers at Children’s Hospital of San Antonio, Children’s National Medical Center, Cincinnati Children’s Hospital, Columbia University, Dell Children’s Medical Center, Henry Ford Hospital, Northwestern University, Pheonix Children’s Hospital, Sainte-Justine Hospital (in Quebec), Stanford University, State University of New York – Downstate, University of California San Diego, University of Massachusetts, University of Miami, University of Minnesota, and Washington University.

The EBCRC sites enroll patients in the EB Clinical Characterization and Outcomes Database (CCOD). The goals of the CCOD are to: 1) Identify well-described patient cohorts that may participate in future studies and therapeutic trials, and 2) Gather longitudinal data on the course, complications, and clinical interventions of EB, in order to develop and refine guidelines for best clinical practice.

There are over 800 patients enrolled in the CCOD at this time. Having a broad cohort of EB patients eager to participate in additional studies was instrumental in the success of an observational study about pruritus (itch) in EB. Clinicians from seven of the EBCRC sites contributed data obtained from a comprehensive online patient questionnaire.

The links to the publications from this study are: http://www. ncbi. nlm.

nih. gov/pubmed/? term=25236506 http://www.

ncbi. nlm. nih.

gov/pubmed/25557557 ​The EB iPS Cell Consortium announced its formation to fight the rare and debilitating genetic disease Epidermolysis Bullosa, affecting thousands, many of whom are children, across the U.S. and worldwide. The consortium is jointly funded by EB Research Partnership and EB Medical Research Foundation (EBMRF) and Cure EB.

Columbia University, Stanford University and University of Colorado Anschutz, joined together in 2016 in a unique collaboration that is often unheard of in American higher education. With the guidance and funding of EBRP Dr. Anthony Oro (of Stanford), Dr. Angela Christiano (of Columbia) and Dr. Dennis Roop (Of University of Colorado) have formed the iPS Cell Consortium.

iPS stands for “induced pluripotent stem” cells whereby a patient’s cells are modified, reproduced and given back to the patient. Under this protocol, cells from an individual with EB will be modified using a non-viral gene editing method to produce iPS cells with a corrected gene encoding the collagen VII protein.

These gene-corrected iPS cells can then be differentiated into other cells such as skin cells known as keratinocytes. These cells can then be given back to an individual with EB. In the upcoming year, the EB iPS Cell Consortium will continue to optimize the manufacturing protocol, taking advantage of new technologies and developments discovered in the individual labs.

These include advances in genome editing, reprogramming technologies, and in process biomarkers for keratinocyte manufacturing. The group aims to begin discussions with the FDA as they move toward clinical development and any needed additional refinements. Drs.

Anthony Oro, Angela Christiano and Dennis Roop. Photography by Eliza Donley Nolte Scientific Advisory Board