Today is the second World Duchenne Awareness Day, the 7th of September 2015. The 7th of the 9th. 79. This is a significant number…
These 79 boxes represent the 79 exons of the DMD gene. This gene encodes for a protein called dystrophin; do you notice that some exons are joined together like a jigsaw? As a general rule, mutations that disrupt this ‘jigsaw’ will cause Duchenne muscular dystrophy. For example, with a deletion of exon 50, exons 49 and 51 cannot slot back together and a functional dystrophin protein will not be produced. Dystrophin is very important for the normal functioning of our muscles and is virtually absent in muscle from patients with Duchenne muscular dystrophy. How does this affect muscle function and the lives of those living with Duchenne? Please start by watching and sharing this amazing video ‘Introduction to Duchenne muscular dystrophy’:
The aim of World Duchenne Awareness Day is to improve the education and awareness of Duchenne muscular dystrophy around the globe. With increased awareness comes an increased interest in the research being carried out to not only better understand and treat the disease but to also improve wellbeing, standard of care and support. The thing I love about the video is that it ends on a positive note, through research we have already begun to change the natural history of Duchenne to help provide a ‘normal independent future’ and enable these boys to ‘play a full part in society’. There is still a long way to go.
My research is predominantly focused on developing antisense oligonucleotide-mediated exon skipping as a way to piece back together that ‘molecular jigsaw’ in affected individuals. It has been a bumpy road but the FDA has very recently accepted a new drug application for the exon skipping drug, eteplirsen, and given it priority review status meaning a decision can be made as early as February 2016. However, this drug can only treat patients with particular mutations and we must continue to build on our experience to help expedite the drug development pathway for other exon skipping drug candidates, including the ‘next generation’ of drugs with improved targeting and delivery.
The video also hits home that Duchenne boys are all individual. From a biological perspective the fact remains that one of the most complicating factors for developing a treatment for Duchenne is the inherent clinical and biochemical variability between patients, even between patients with the same genetic mutation. This makes the selection and validation of outcome measures for clinical trials very difficult. Overcoming these challenges is a large part of our focus in the Duchenne research community for which teams across the globe are joining forces to avoid unnecessary delays in translating this research to the clinic (see http://exonskipping.eu/ and http://weekademia.com/2015/04/13/academia-industry-relationship/).
For more information be sure to visit the World Duchenne Awareness Day 2015 website where you can also find patient photo blogs and release a virtual balloon!