Jackson Gabriel Silver Foundation

Research Update
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 info@jgsf.org.

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

Researchers have begun to prove that stem cells can be used to both treat and cure EB. A key area of focus has been the bone marrow transplant trials underway at the University of Minnesota . The basic concept is to replace the bone marrow of an individual with RDEB or JEB 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 is that the proper proteins would be produced, which in turn would keep an EB patient’s layers of skin together. The skin would be more normal over time, potentially curing the EB.

Most recently, Drs. John Wagner and Jakub Tolar at the University of Minnesota have published the results of the first phase of this study. While still early, the results appear very promising. A copy of the article and editorial can be downloaded by clicking on these links.

Beyond the application to EB, according to Dr. Wagner, this is the first time stem cells have been used to repair skin. This has tremendous potential to all who suffer from wounds and burns.

To learn more about the University of Minnesota trial, please click here.

In the United Kingdom, there has been exciting work by Dr. John McGrath in which individuals with EB received injections of human fibroblasts (a type of cells). Results of this type of treatment have also been promising. To read an abstract of Dr. McGrath’s work, please click here.

Gene Therapy
In this approach to curing EB, a small section of skin is removed from a person with EB and the gene “error” is corrected to produce Collagen VII. The corrected skin is grown into larger amounts and then grafted back onto the body. This area of skin is actually then cured of EB. Similar to protein therapy, gene therapy has been proven to work in mice.

Drs. Al Lane and Paul Khavari have labored over gene therapy to treat EB for years. After many years of work, Stanford hopes to commence a human trial soon. To learn more about Stanford’s gene therapy trial, please click here. A short video can be viewed below about gene therapy at Stanford.

Stem Cell Gene Therapy

In this novel approach, an individual who suffers from EB own cells are “fixed” using a safer experimental technology. These repaired cells would then be able to produce the important missing protein Collagen VII. Once repaired, the cells would be reintroduced to the body, which would then help the skin heal. By correcting a person’s own cells directly, the risks associated with donor cells and transplantation are completely removed. Furthermore, each and every person with EB could have his or her own personalized treatment and cure. Dr. Jakub Tolar is pioneering this life altering therapy, which could change the lives of people suffering from my different rare genetic conditions.