Weekly Spotlight - 10.10.24

In the News

Heteroduplex Oligonucleotide Enhances Duchenne Therapy in Mice

The recent study explores the application of heteroduplex oligonucleotide (HDO) technology to enhance the efficacy of morpholino oligomers in treating Duchenne muscular dystrophy (DMD) in a mouse model. This innovative approach addresses the limitations of traditional phosphorodiamidate morpholino oligomers (PMOs), which struggle with poor tissue uptake, particularly in critical areas like the heart and central nervous system. By conjugating PMOs with lipid-ligand complementary strands, the HDO technology significantly improves delivery and retention in target tissues, leading to normalised motor functions and muscle pathology in mdx mice.

The research highlights the potential of HDO technology to revolutionise exon-skipping therapies for DMD and similar genetic disorders. The study demonstrates that HDOs not only enhance the distribution and efficacy of PMOs but also restore dystrophin expression, crucial for muscle function. This advancement offers a promising avenue for developing more effective treatments for DMD, potentially improving the quality of life for patients by addressing both muscular and neurological symptoms associated with the disease.

Max's Big Ride: Raising Awareness for Duchenne Muscular Dystrophy Research

Max's Big Ride, initiated by Andrew Sedmihradsky, marks its 10th anniversary in 2024. This annual 600 km journey from Ottawa to Hamilton raises funds for Duchenne muscular dystrophy (DMD) research. Andrew's son, Max, who has DMD, inspired this endeavour. DMD, a progressive muscle disease affecting 1 in 3,500 boys, leads to muscle weakness and is ultimately fatal. The ride supports the Gunning Group Lab at the University of Toronto Mississauga, aiming to improve outcomes for those with DMD.

In a unique fundraising effort, supporters donated their cycling miles to reduce Andrew's total distance. Notably, Derek Gee, a former pro cyclist, contributed 200 km from the Grand Prix Cycliste de Quebec. This initiative highlights the community's commitment to advancing research and awareness for DMD.

Sarepta to Present New Neuromuscular Data at 2024 Congress

Sarepta Therapeutics is set to unveil significant findings from its neuromuscular portfolio at the 2024 World Muscle Society Congress in Prague. The presentation will highlight new safety and efficacy data from the delandistrogene moxeparvovec clinical development programme, including insights from the EMBARK study on skeletal muscle and cardiac MRI outcomes. This data, alongside a comprehensive analysis of safety across all studies and five-year functional results from Study SRP-9001-101, represents the most extensive long-term data for gene therapy in Duchenne muscular dystrophy to date.

The congress will feature various presentations, including a podium presentation on muscle MRI outcomes and a late-breaking poster on the long-term safety of delandistrogene moxeparvovec. Sarepta's commitment to advancing precision genetic medicine is underscored by its leadership in Duchenne muscular dystrophy and limb-girdle muscular dystrophies, with over 40 programmes in development. The company's multi-platform Precision Genetic Medicine Engine continues to drive innovation in gene therapy, RNA, and gene editing, contributing to a growing body of evidence supporting the potential benefits of their therapeutic approaches.

F-M Family Raises Duchenne Awareness Through Coach to Cure MD Event

The Fayetteville-Manlius family is actively involved in raising awareness for Duchenne muscular dystrophy (DMD) through the annual Coach to Cure MD event. Charlie Prior, a third grader diagnosed with DMD, exemplifies resilience and determination. Despite the progressive nature of the disease, recent advancements in gene therapy have significantly improved his mobility and independence, which his mother, Cheryl, describes as miraculous. The family emphasises the importance of sharing their journey to support other families affected by DMD, highlighting the collective effort required to navigate such challenges.

Charlie's role as an ambassador at a Syracuse University football game underscores the impact of community support and awareness initiatives. The event, part of a national campaign by Parent Project Muscular Dystrophy and the American Football Coaches Association, sees college football coaches wearing patches to raise funds and awareness for DMD research. This experience not only provided Charlie with cherished memories but also reinforced the significance of advocacy and community involvement in the fight against Duchenne muscular dystrophy. Through these efforts, the Priors contribute to a broader understanding and support network for those affected by this condition.

Hustle for Muscle Fun Run Supports Muscular Dystrophy Research

The annual Hustle for Muscle 5K/1 Mile Fun Run is set to take place on Wednesday, November 27th, at Von C Brewing in Norristown, PA. The event, beginning at 1:30 pm, offers a registration fee of £25, which includes an official t-shirt for the first 100 participants. Same-day registration is available for £35, though it does not include a t-shirt. Attendees can enjoy food from the Lunchbox food truck and entertainment by Joe Downs from 1:00 to 4:00 pm, with race timing provided by Second Wind Race Timing.

This event supports Parent Project Muscular Dystrophy, the largest U.S. non-profit dedicated to Duchenne muscular dystrophy. Even those unable to participate in the run can contribute through donations. The event not only promotes physical activity but also raises awareness and funds for a significant cause. For further inquiries, interested parties are encouraged to contact Pat Chipman.