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Developing Treatments for Epidermolysis Bullosa Simplex

Developing Treatments for Epidermolysis Bullosa Simplex

Gene therapy may be a promising treatment in the future for Epidermolysis Bullosa Simplex (EBS), where stem cells could be cultured outside of the body, modified and returned as transplants. Researchers at The Reichelt Laboratory in Newcastle are currently researching potential gene therapies. They are looking at TALEN (Transcription Activator-Like Effector Nucleases) based treatment where the gene that “codes” xzs for EBS is repaired to produce the correct protein for the skin. TALEN essentially cut a particular sequence of DNA just like a pair of molecular scissors. This system has shown to be effective at correcting genes in the laboratory but this isn’t yet in clinical trials. More information can be found at here. Research into other potential therapies such as cell and protein therapy are also underway.

However, more immediate management of EBS is needed and currently this consists of good nutrition, careful management of blisters, modifying clothing and flexible/seamless shoes to help reduce blistering. Dressings that are made up of hydrogel or silicone are reported to be of benefit for blisters, with hydrogels said to have a cooling effect on inflamed and irritated skin. A recent study published by Brun and her co workers discussed that even though EBS is classed as a mild form of EB, blistering is still very painful and in particular, affects the hands and soles of the feet, often becoming worse during warmer weather. Their paper also discussed how EBS patients suffer with multiple types of pain including neuropathic pain (caused by damage to the nerves) which manifests itself as burning, prickling and well reported itching. Whilst wound healing can be a major issue with risk of infection, managing pain, including daily pain and that at dressing changes is a high priority. The effectiveness of a range of analgesics is mixed and certainly more research is required along with the development of new agents.

More recent developments for treating EBS have been reported by Castle Creek Pharmaceuticals, a company focussing on debilitating dermatological conditions as one of their areas of research. They have made promising headway with an ointment containing diacerein (1%), with data that showed efficacy in patients with EBS. Their results were presented at the American Academy of Dermatology meeting in Spring of this year.

17 patients enrolled in their randomised, double blind, placebo controlled phase II trial showed an average of 60% reduction in blistering within 4 weeks of treatment. Furthermore, patients continued to benefit from the Diacerein when followed up at 12 weeks with only 12% returning to pre-treatment blistering levels. This compared with a 15% response rate in the placebo (control) group with 67% returning to pre-treatment levels. A larger study is now ongoing which will hopefully confirm these results in 80 patients also looking at itch, pain and mobility as outcomes. Dr Johann Bauer presented these data and commented that this was a “historic advance – that there is a potential for diacerein 1% to offer long term benefits”.

Traditionally, oral diacerein is used to treat arthritis to help manage pain and swelling of joints and has been shown to have effects in eczema, rash and itch because of anti-inflammatory effects. It works by blocking an inflammatory signalling pathway by blocking a protein called Interleukin-1 beta.

Currently, DEBRA UK is funding research into EBS with the team at the University of Dundee. Dr. Peter van den Akker is DEBRA UK’s clinical fellow at The Centre for Dermatology and Genetic Medicine (DGEM), University of Dundee. More information can be found here.

Dr. Peter van den Akker also works with Professor Irwin McLean (human genetics, keratin biology), Dr Robyn Hickerson (gene silencing therapy) as well as Dr Aileen Sandilands (cell and molecular biology). Professor McLean has also been co-funded by DEBRA UK and the Medical Research Council (MRC) to collect data on genetic information on EBS which may be valuable for future treatment planning. More information can be found here.

In summary, research is being carried out for the immediate and long term to improve quality of life today as well as a cure for the future.

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