EB Research Internationally
There are many laboratories world wide undertaking EB research. Much of this research is funded by national DEBRA organisations, such as DEBRA Ireland, DEBRA UK and DEBRA Austria, or through the umbrella group DEBRA International. The EB Medical Research Foundation (EBMRF) also funds EB research in California, USA.
EB is a complex condition and presents a challenge to treat or cure. Because of this there are many different approaches to treatments and therapies being investigated. You might say that the EB research community currently has eggs in many different baskets. Most of the research is at the ‘pre-clinical' stage where issues around effectiveness, delivery (getting the treatment to where it is required), dosage (identifying the appropriate quantities) and safety are being addressed in a laboratory setting. Some of the approaches however, are at the earliest stages of clinical trials, where testing actually begins on patients. Unfortunately the process of taking potential treatments from the laboratory to the clinic is very slow and laborious but every passing year brings us closer to real benefits for patients.
Most EB research falls under one of the following broad categories:
Basic (or fundamental) research
While our understanding of EB has advanced enormously in the last 20 years there are still many questions that remain unanswered. Basic research, for instance, the search for new genes or new mutations, which cause EB, still has a large role to play.
As EB is a genetic condition, replacing or correcting the faulty gene is potentially the perfect solution. Gene therapy is technically very challenging but progress is being made in the development of gene therapies for both recessive and dominant forms of EB. In the last few years there have been some particularly exciting developments in the use of ‘genetically corrected' skin grafts. In this case, stem cells are taken from a patient's skin and the missing gene is inserted into them. The cells are then grown into ‘skin sheets' in the lab which are then grafted back onto areas of wounding on the patients skin. Click here to watch a video on a planned gene therapy trial in Stanford, California, on people with recessive dystrophic EB.
There has been some success recently in the use of skin cells from donors to treat EB (click here to watch a video). These cells are injected around areas of wounding in EB patients' skin where they appear to have an ability to help with healing. The use of bone marrow transplants is also currently being investigated as a treatment avenue, due to the presence of stem cells in bone marrow which can become many different cell types, including skin cells. This is a very exciting approach but as bone marrow transplantation is a very high-risk procedure, this is unlikely to become a widely used treatment in the near future.
Genes are responsible for making proteins, which can be considered the work horses of our cells. In severe cases of EB the fault in the genes results in reduced amounts or total absence of a critical protein which causes the symptoms of EB. Injection of the missing protein directly into patients is being investigated as an approach to therapy and is showing some early signs of success.
There are different methods being investigated to encourage wounds in EB skin to heal which include drugs known as small molecules and biomaterials approaches.
Cancer in EB
Many individuals with recessive dystrophic EB are at risk of an aggressive form of skin cancer call squamous cell carcinoma (SCC). Much EB research is focused on ways to prevent this cancer from developing or spreading.