CUREUsher is very pleased to officially announce its co-financing of a new research study in a collaboration effort with Stichting Ushersyndroom, a foundation based in the Netherlands. This exciting new research study will focus on minigene therapy as a possible treatment for retinitis pigmentosa associated with Usher syndrome 2C. The study, which is receiving a total grant of ?250,000, will be headed by Dr Erwin van Wijk, Dr Erik de Vrieze and Dr Ronald Pennings at Radboud University Medical Centre (Radboudumc) in Nijmegen, NL. Due to the large funding this project is receiving it will guarantee that this study will be completed within its time-frame of four years after which clinical trials on humans could start. In more exciting news, this USH2C project follows a similar research study, minigene therapy as a possible treatment for retinitis pigmentosa associated with USH2A,?with the first results expected to be released early 2020. If the outcome of this study is successful, then preparations for human clinical trials could begin shortly afterwards. This makes it a very exciting and promising time for Usher syndrome research, as successful outcomes from these studies would lead to more research and trials on more Usher syndrome types.
Meeting with our counterparts from Stichting Ushersyndroom, Ivonne Bressers, Annouk van Numen, and Rick Brouwer recently along with Dr Erwin van Wijk, Dr Erik de Vrieze and Dr Ronald Pennings and members of the research team at Radboudumc, the atmosphere was described as positive, exciting and above all, very hopeful.? A video, shown below, was made on the day to highlight how patients can be the driving force behind researchers. It also shows the importance of patient organisations collaborating together.
?Collaboration is one of our core principles, and we believe this is key to accelerating efforts in finding a cure for Usher syndrome.? CUREUsher?s collaboration with Stichting Ushersyndroom demonstrates what can be achieved wholly for the benefit of those with Usher syndrome.?, Deborah Heffernan, Director of Strategy
?It is wonderful working with Stichting Ushersyndroom and the research team in Raboudumc.? Everyone?s values and commitment to making Usher syndrome a disease of the past is energising and positive.?, Carol Brill, Director of Scientific Research
CUREUsher, the only UK registered charity dedicated to fundraising and advocating for scientific research to find a treatment or cure for Usher syndrome, is proud to be collaborating with Stichting Ushersyndroom by providing co-financing on this research study. The Board of Trustees, who are from the UK and Ireland, firmly believe collaboration is crucial to achieving CUREUsher?s mission and are committed to this by working with international Usher syndrome groups.
?We would especially like to thank all of CUREUsher?s supporters who took part in the Scafell Pike fundraiser as well as the many donations and other fundraisers that raised valuable funds which enabled us to be in a position to co-fund this study. As a charity less than a year old we believe this is a wonderful achievement for CUREUsher. As is our mission, we will keep working towards our goal of a cure for all of those with Usher syndrome, and with your continued help we won?t stop until then.?
Joanne White, Founder
Explainer: What is minigene therapy?
Standard gene therapy for IRDs (inherited retinal diseases) requires the use of an AAV (adeno-associated virus) vector to deliver the gene therapy to the retina. However, the size of many Usher genes far exceeds the capacity for use of an AAV vector and researchers have been looking at alternatives. One alternative is minigene therapy. A minigene is a minimal gene fragment that includes an exon and control region necessary for the gene to express itself that will fit inside an AAV vector. It is the aim of this study to successfully prove that this concept works by using the minigene therapy approach on zebrafish models with USH2C mutations. If successful, it would lead to clinical human trials to treat retinitis pigmentosa in all USH2C patients.
We will continue to provide updates on developments in regards to this research study. However, if you have any further questions, please contact Carol Brill, our Director for Scientific Research, at email@example.com who will be happy to answer your question.
Read the full press release from Stichting Ushersyndroom here >> https://ushersyndroom.nl/en/development-of-gene-therapy-for-large-ush2c-gene/