There has been much activity across Europe recently to establish rare disease European Reference Networks (ERNs), “groups of highly specialised providers across the EU”. Continue reading
Amicus Therapeutics will acquire Scioderm for its Zorblisa (topical 6% allantoin for the treatment of epidermolysis bullosa) Continue reading
Working closely with Dr. Wenxin Wang and his team of EB researchers, DEBRA Ireland organised an exciting afternoon of EB research on the last day in January, 2015. Continue reading
Emma Watson recently tweeted a message about EB to her 15 million followers in support of Sohana Collins, a twelve year old who was born with EB.
Following many years of painstaking preparation, Professor Alfred Lane and a strong team of researchers in Stanford University, California, have begun a clinical trial to test the effectiveness of a potential gene therapy for RDEB. This approach involves taking samples of the patient’s own keratinocyte (skin) cells and using specially adapted viruses, to carry full copies of the collagen 7 gene into the cells, in the lab. The cells are then grown into sheets of epidermis (skin) and grafted back onto wounds on the patient’s body.
The results from the first patient to undergo this experimental procedure have been reported (see abstract 430 on this webpage). He is a 23 year-old man, with RDEB, who normally has almost no collagen 7 in his skin. Six sheets of ‘corrected’ epidermis, each measuring approximately 35cm2, were grafted onto carefully prepared wounds on his arms.
The research team have reported that the grafts were not rejected by the patient’s body and that they looked ‘clinically normal’ after 30 days. Laboratory analysis of biopsies from the grafted regions showed that normal looking collagen 7 was present in the skin and was behaving as it should. Most importantly, the team also reported that the grafted areas were not blistering and not itchy.
It’s still very early days for this clinical trial but these first results are encouraging. We wish to thank Prof Alfred Lane and his team for their continued commitment and also to thank the people with EB who will be participating in this landmark clinical trial.
Avril Kennan, Head of Research and Advocacy, DEBRA Ireland