Today’s Research is Tomorrow’s Hope
Life-altering treatments are on the horizon. By continuing to partner with the leading global researchers, we will fulfill our mission –
Find a Cure. Heal EB.
Protein Replacement Therapy
Protein replacement therapy attempts to replace or boost the protein that is defective or missing in individuals with EB through localized injections, micro-needle applications, and systemic therapy. Researchers at the University of Southern California (USC) and Stanford University continue to advance work in this area.
Simultaneously, Shire, a leading public pharmaceutical company, is working to commercialize protein replacement therapy for Dystrophic EB. EBRP has been a key funder of the work at both Stanford and USC and helped facilitate Shire’s interest and involvement with EB.
While not a cure, protein replacement therapy would be a “game changing”-treatment, allowing individuals with EB to have a better quality of life. Future research in this area could include investigating topical and ocular applications.
The theory behind cell therapy is that stem cells, fibroblasts, or gene-corrected cells can be injected locally or systemically, resulting in either temporary or permanent expression of the specific protein that is defective in individuals with EB.
In a notable cell therapy trial, doctors at the University of Minnesota have performed bone marrow transplants on individuals with RDEB and JEB, seeking to replace their bone marrow with a donor’s bone marrow that has the proper protein production capability. As the body’s wounds heal and the skin regenerates, the theory holds that the body will produce proper proteins for healthy skin.
At Kings College in the United Kingdom, in an on-going trial, researchers have yielded promising initial results by injecting fibroblasts into the skin of individuals with EB.
Academic institutions in the United States and commercial companies such as Fibrocell Science, Inc. are working on localized and systemic applications of gene-corrected cells, which would give many of the benefits individuals with EB have experienced from donor cells without the trauma of ablating a patient’s bone marrow.
Gene therapy consists of using methods to carry the correct gene into the patient’s cell, where the correct gene then causes the cell to make the correct protein. A localized form of gene therapy for individuals with RDEB is in clinical trials at Stanford University. In this trial, a small section of skin is removed from a person with RDEB, and the skin is grown in culture to form sheets of skin the size of playing cards. The correct gene is carried into the cultured skin cells by a virus. The corrected skin cells are then able to make the correct protein. The gene-corrected skin cells are then grafted back onto the body and the area of grafted skin is cured of EB. In Europe, similar human clinical trials are occurring for individuals suffering from JEB.
Stem cell therapy is another cutting-edge technique used to target the “error” in the gene that causes EB. In this form of treatment, an EB individual’s own cells are gene-edited ,then reintroduced into the body. Once corrected, the gene should express the correct protein, enabling the body to produce the missing protein, and EB is cured. Imagine a limitless and personalized supply of properly functioning cells as these corrected cells will reproduce and express the missing protein. Because the patient is receiving their own corrected cells, this is done without the risk of rejection that a bone marrow transplant presents. In addition, some forms of gene-editing are done without using a virus to correct the cell, which would also result in a safer form of gene therapy.
EBRP helped create and continues to support research enabling infrastructure to ensure that treatments will get to those in need as swiftly as possible. Key projects supported in this area include:
• The Epidermolysis Bullosa Clinical Research Consortium (EBCRC) was formed in 2011 to conduct clinical and translational research in EB and improve the lives of those suffering. The EBCRC is developing the infrastructure necessary to enhance collaborative multi-site clinical research and to secure funding for additional translational EB research. Current members of the EBCRC are leading physicians and researchers at Children's Hospital of San Antonio, Cincinnati's Children's Hospital Medical Center, Columbia University, Dell Children's Medical Center, Austin, Henry Ford Hospital in Detroit, Northwestern University, Phoenix Children's Hospital, Sainte-Justine Hospital University Center (Quebec), Stanford University, Toronto's Children's Hospital (SickKids), University of California San Diego, University of Colorado, University of Massachusetts, University of Miami, University of Minnesota, and Washington University.
• iScoreEB – Children’s Hospital of Colorado, in partnership with the Hospital for Sick Kids in Toronto, is developing an instrument for scoring clinical outcomes. As new therapies are developed, researchers will need a precise measure to see if the intervention improves the lives of EB patients. iScoreEB enables researchers to capture both clinically relevant and patient-reported outcomes in order to determine whether EB symptoms improve as a result of the intervention.
Apply for a Grant
EB Research Partnership (EBRP), a 501(c)(3) non-profit organization, seeks to award grant funding for research with the potential to lead directly to commercially feasible products and therapies for treating and/or curing Epidermolysis Bullosa (EB). Applicants are invited to submit a Letter of Interest (LOI) which will be evaluated and scored by EBRP’s Scientific Advisory Board (SAB). Based on the SAB’s evaluation and scoring of LOIs and other criteria, EBRP will select specific projects for funding which show a high degree of promise. EBRP will then begin communications and establish research contracts with the appropriate host institution. Also required will be documentation of Humane Care and Use of Laboratory Animals and documentation of Human Subjects approvals, when necessary. Any request by EBRP for additional information and/or a formal application should NOT be considered as a Notice of Grant Award, nor should it be construed as an indicator of possible award. Grants awarded will be subject to EBRP’s Research Grant Guidelines and Policies (coming soon), including a 5% limit on indirect costs. Please note that EBRP employs a venture philanthropy model whenever possible.
Research projects submitted for review:
- - Should be designed to result in the creation of treatments and/or therapies for the benefit of EB patients. EBRP looks most favorably on research with the aim of commercialization within the next 3-5 years.
- - May relate to re-purposing existing drugs or products to treat EB, if expected to increase EB patients’ quality of life meaningfully.
- - May be intended to provide localized or systemic benefit to EB patients.
- - May involve pre-clinical or clinical trial work.
- - May relate in whole or in part to developing research-enabling tools, such as outcome measurement and database information to accelerate clinical trials.
- - Should not be concerned primarily with basic research into the classifications of EB or open-ended research projects without potential to lead directly to commercially feasible products or therapies to treat and/or cure EB. For example, a project with the goal of identifying that EB causes itch would not be responsive to EBRP’s request for project proposals; however, a project with the goal of creating a commercially viable therapy that meaningfully reduces itch in EB patients would be responsive to EBRP’s request for project proposals.
Each applicant should send an LOI as a single PDF document via email to firstname.lastname@example.org between July 1, 2015 and July 15, 2015 in order to be evaluated for the current funding cycle. EBRP expects the SAB to have completed the evaluation and scoring of LOIs by the end of August 2015, after which applicants will be contacted with the results. EBRP expects to review applications for future funding cycles semiannually.
The LOI must comply with the following criteria. Applications should be no longer than 8 pages (including cover page) and in a font equivalent to or larger than 11 point Arial. The cover page should include only the project title, the address and title of the investigator, and the host institution. Page 2 should include only an Abstract of Research of 150 words or less. Pages 3 through 6 should contain a more detailed research proposal, including Specific Aims, Background and Significance, Research Strategy, and References. Page 7 should contain a project budget organized by category of expense (e.g., Personnel, Equipment, Materials and Supplies, Animal Expenses, Travel). Page 8 should be a list of project milestones with a timeline for completion.
Grants awarded during the upcoming cycle will provide project funding for 1 year. Depending upon the success of the initial year’s activity and availability of future funding, there is potential for grants to be renewed annually for up to 5 years.
Current Clinical Trials
There are several clinical trials that are recruiting and/or underway. Click here for a complete list of clinical trials.
Gene Transfer Study for RDEB at Stanford University
Stanford is currently looking for subjects with Recessive Dystrophic Epidermolysis Bullosa (RDEB) to participate in a gene transfer study. Entrance into the gene transfer study is a two-step process. They will select subjects who have first participated in our study of the characteristics of patients with dystrophic EB. The Characteristics study will involve a trip to Stanford, in which they will perform blood tests, skin biopsies, and possibly genetic testing. They will pay for the laboratory expenses and reasonable travel expenses related to this visit to Stanford University. Click here for more information on the Characteristic study. Please contact our research coordinator, Priya Hegde at (650) 724-1982 for information on this gene transfer study or the Characteristics study or if you have any questions.
For a complete description of the work taking place at Stanford, please visit Stanford Dermatology Website: EB Research Update.
Stem Cell Transplant for RDEB at the University of Minnesota
This is an open-label, single institution, phase II study in patients with epidermolysis bullosa (EB). The underlying hypothesis is that the infusion of bone marrow or umbilical cord blood from a healthy unaffected donor will correct the collagen, laminin, integrin, or plakin deficiency and reduce the skin fragility characteristic of severe forms of EB. A secondary hypothesis is that mesenchymal stem cells from a healthy donor will enhance the safety and efficacy of the allogeneic hematopoietic stem cell transplant as well as serve as a source of renewable cells for the treatment of focal areas of residual blistering.
Please contact Patricia Kleinke at 612-237-0857 or email@example.com for details.
Open Label Extension Study to Evaluate the Safety of SD-101 Cream in Subjects With Epidermolysis Bullosa
This is an open label extension study to assess the continued safety of topically applied SD-101 Dermal Cream (6%) in subjects with Simplex, Recessive Dystrophic, and Junctional non-Herlitz Epidermolysis Bullosa. The purpose of this study is to assess the continued safety of topical use of SD-101 cream (6%) in subjects with Epidermolysis Bullosa
This study is entering Phase 3 Clinical trials and is currently recruiting participants. To learn more about Scioderm’s Clinical Trial, click here.
Validation of iscorEB Part 1: instrument reliability and construct validity
Dr. Anna Bruckner, at Children’s Hospital Colorado (Aurora, CO), and Dr. Elena Pope, at The Hospital for Sick Children (Toronto, Canada), are inviting children and adults with EB to participate in a research study. This study is to test a new tool called iscorEB. iscorEB is a questionnaire that captures information from you and your doctor about your EB. A tool like this will be able to measure if your EB is getting better or worse - either due to treatment or time. If iscorEB works, it could be used to study treatments for EB in the future.
In this research study, you would be required to travel to Aurora (just outside of Denver) to participate in a full-day clinical evaluation session. At this session, iscorEB will be tested by a team of EB doctors and by patients with EB. iscorEB will also be compared to similar tools that have been studied before. This process will allow us to determine if iscorEB is a good tool and to change it if necessary. The evaluation session is tentatively scheduled to occur in Colorado on Saturday August 23, 2014.
This study is funded by grants from the Jackson Gabriel Silver Foundation (awarded to the University of Colorado) and the Epidermolysis Bullosa Medical Research Foundation (awarded to The Hospital for Sick Children, Toronto).
If you would like to hear more information about participating in this research study, please let us know by contacting the study coordinator, Jennifer Sternberg, at firstname.lastname@example.org or 720-777-5717. We would be delighted to discuss this in more detail.
Fibrocell Receives Rare Pediatric Disease Designation from FDA for FCX-007 for the Treatment of Recessive Dystrophic Epidermolysis Bullosa (RDEB)
Gene-Therapy Drug Candidate Is Potential First-in-Class Treatment for RDEB —
A Rare, Congenital, Devastating Skin Disease
EXTON, PA – May 12, 2015 – Fibrocell Science, Inc., (Nasdaq: FCSC), an autologous cell and gene therapy company primarily focused on developing first-in-class treatments for rare and serious skin and connective tissue diseases with high unmet medical needs, today announced that the U.S. Food and Drug Administration (FDA) has granted rare pediatric disease designation for Fibrocell’s lead orphan gene-therapy drug candidate, FCX-007, for the treatment of recessive dystrophic epidermolysis bullosa (RDEB). The rare pediatric disease designation augments the Orphan Drug designation granted by the FDA and announced by Fibrocell in June 2014 for FCX-007 to treat dystrophic epidermolysis bullosa (DEB), which includes RDEB.
“We are pleased that the FDA has granted our request to designate FCX-007 for the treatment of RDEB as a drug for a rare pediatric disease,” said David Pernock, Chairman and Chief Executive Officer of Fibrocell. “FCX-007 may offer RDEB patients and their families the first therapy to treat the underlying cause of the disease, bringing hope and relief to what is today a painful, disabling and often fatal congenital disorder."