CureDuchenne has always been focused on finding and funding treatments to help EVERYONE affected with Duchenne, and to TREAT THE WHOLE DISEASE. We are very proud of our comprehensive portfolio of research projects and we continue to be the research leader for the Duchenne community. Over the past five years we have pioneered duplication mutation research by funding Dr. Kevin Flanigan’s team at Nationwide Children’s Hospital that targets exon 2 skipping and therapy for exon 2 duplications. We are very pleased to see Dr. Flanigan’s work progress and proud to have supported his research on duplication and rare mutations from the beginning.
Now we need to fund a toxicology and biodistribution study to complete all the pre-clinical data. These final pre-clinical studies need to be completed before moving into human clinical trial. The Duchenne community stood behind those families that need to skip exon 51, and now, we are asking for your help to bring a cure to a very rare mutation that will likely not receive pharmaceutical support for many years. Please donate now to help advance this important research.
Here is an update on Dr. Flanigan’s research and the next steps.
Current Results for CureDuchenne’s support of Dr. Flanigan’s research
- Created a new mouse model (Dup2) of Duchenne that contains a duplication of exon 2 for the direct testing of exon-skipping therapies
- Identified a new novel internal ribosome entry site that allows for production of a highly-functional N-truncated dystrophin protein
- Demonstrated significant exon 2 skipping as well as increased dystrophin production and functional rescue through virally mediated exon 2 skipping.
- Treatment leads to increased production of the truncated dystrophin protein five-month post treatment in Dup2 mouse
Timeline to Clinical Trials
- Submit Pre-IND package to FDA by the end of December 2016
- Conduct IND-enabling studies during 2017
- Allow enrollment of the first patients in the first quarter of 2018
We will continue to support Dr. Flanigan’s research to help advance it to human clinical trials. Thank you to the families and other donors who helped fund this important research to date. We now need other families to help raise $800,000 to fund these pre-clinical studies. Our immediate need is $200,000 to start these very important studies. You can make an impact. You can make a difference in the lives of those with Duchenne.