Perhaps the most hopeful aspect of Recessive Dystrophic EB (RDEB) today for Jackson, and all children living with EB, is the quality of research being performed that can render this disease livable and, ultimately, curable. Due to work dating back many decades, EB research is now at a stage where treatments and cures have the potential to become a reality with your help.
Researchers know exactly what causes this disease and have encouraging knowledge of how to fix it. With more funding, a finish line can be in sight for the thousands of children like Jackson, who were born with this disease.
Broadly speaking, EB research can be divided into three approaches. There are many excellent researchers not listed below who spend significant time trying to cure this devastating disease. If you are interested in learning more about any specific therapy and the researchers associated with it, please contact us at email@example.com.
Protein Replacement Therapy
To date, protein replacement therapy has focused on Recessive Dystrophic EB (RDEB), one of the most severe forms of EB, though its application could apply to other forms of EB. Researchers estimate that an individual needs only 35% of the typical level of Collagen VII for the skin to behave normally. The concept is to replace or boost the protein that is missing in RDEB kids – Collagen VII – with localized and potentially systemic injections. This has been shown to work in mice. Now leading researchers at the University of Southern California are looking to commence a Phase I trial as soon as possible.
Experts indicate that with sufficient resources, a commercialized therapy could be available in the foreseeable future. In fact, in June 2011, Lotus Tissue Repair, a private venture-back company, received $26 million in funding to take a leading form of protein replacement therapy through commercialization in the United States. Imagine what that would mean to a child whose skin tears off in her shoes to have a localized injection that renders the skin on her feet potentially normal. Doctors have the knowledge to apply this treatment as soon as it is available. While not a cure, this would be a truly viable “game changing” treatment, allowing a child like Jackson to have a better quality life. Assuming a localized injection therapy works, future research would include investigating intravenous and topical applications.
The pioneers of this therapy are Drs. David Woodley and Mei Chen of the University of Southern California and Dr. Peter Marinkovich of Stanford University.
Stem Cell Therapies