Exon Skipping as a Potential Treatment for Duplication Mutations in Duchenne

Click here for the recorded webinar:  https://cc.readytalk.com/cc/playback/Playback.do?id=2lyea5

CureDuchenne has been an early and important funder of exon skipping research for Duchenne.  As we gain visibility to an actual therapeutic with exon skipping, we believe it’s important that all boys afflicted with this disease have access to a drug that will treat their specific mutation.

The detection and possible treatment of duplication mutations in Duchenne has long been a neglected issue.CureDuchenne has worked with Dr. Kevin Flanigan over the last few years and he is making progress to discern if exon skipping can help with duplication mutations.

Duplicated exons represent approximately 6% of the DMD patient population, with the duplication of exon 2 being the single most common one identified.

The mouse model of Duchenne harbors a mutation at exon 23 of the DMD gene making it the most established preclinical model in which to examine single exon skipping strategies with antisense drugs. Unfortunately, no preclinical animal model of DMD was known to harbor a duplicated exon.

To this end, CureDuchenne partnered with Dr. Kevin Flanigan and colleagues at Nationwide Children’s Hospital at Columbus, to support the development of a mouse with a duplicated exon.

In today’s webinar, Dr. Flanigan updated the community on the latest development of this new mouse that has a duplicated exon 2 in its DMD gene. He reported on its phenotype and its utility as a critical tool for in vivo testing of new approaches to target exon skipping strategies for duplicated exons.

In addition, we also heard that his group have developed patient-derived fibroblast cell lines representative of a variety of duplicated exons and have recently used these new cells to demonstrate exon skipping with antisense oligonucleotides.

The focus of this research is now shifting towards clinical development using an AAV delivery of a U7 snRNA-mediated exon skipping, the first target of which will be directed towards patients harboring exon 2 duplications.

CureDuchenne intends to continue its long-term support of this important work, and is asking the Duchenne community to rally around this exciting research opportunity and help CureDuchenne provide the funding to Dr. Flanigan to ensure that his work proceeds as quickly as possible.  We need to raise $120,000 immediately for Dr. Flanigan and $500,000 over the next 18 months to enable him to get ready for human clinical trials.

Please click here to donate:  https://secure3.convio.net/cd/site/Donation2;jsessionid=DBE10F1A6C0D9145E8C54724905F5791.app333a?1340.donation=form1&df_id=1340

If you would like for your contribution to go directly to Dr. Flanigan’s work, please call me at 949-872-2552 or email me at debra@cureduchenne.org.

Click here for the recorded webinar:  https://cc.readytalk.com/cc/playback/Playback.do?id=2lyea5

Together, we CAN Cure Duchenne!

Debra