Weekly Spotlight - 03.10.24

In the News

Max's Big Ride Celebrates 10 Years of Advocacy and Support

Max's Big Ride, celebrating its 10th anniversary in 2024, is a heartfelt initiative by Andrew Sedmihradsky, who cycles from Ottawa to Hamilton to raise funds for Duchenne muscular dystrophy (DMD) research. His son Max, diagnosed with DMD, has inspired this annual 600 km journey, totalling 5,400 km over the years. DMD, a progressive muscle disease affecting 1 in 3,500 boys, leads to severe 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 affected by DMD.

In a delightful twist, the ride recently featured a unique fundraiser where supporters could donate their miles to reduce Andrew's cycling distance. Former pro cyclist Ruby West and her fiancé, Derek Gee, who finished 9th at the Tour de France, contributed 200 km from the Grand Prix Cycliste de Quebec. This playful yet impactful gesture underscores the community's support and the ongoing quest for a cure. For more information or to contribute, visit MaxsRide.com.

Rev It Up 5K Raises $27,000 for Duchenne Research

The 2024 Rev It Up 5K, held on September 21, 2024, and presented by Mitsubishi Electric Automotive America, successfully raised $27,000 for Parent Project Muscular Dystrophy (PPMD). Organised by the indefatigable Jason Dempsey, the event saw 185 participants, including Jason's son Jude, who, despite his Duchenne muscular dystrophy diagnosis, crossed the finish line with pride and was a top fundraiser. The Jogging for James crew, led by Kevin Hoffman, also made a significant contribution, raising $9,625 in honour of Kevin's son, James.

The event, held at Corwin Nixon Park in Mason, OH, concluded with awards for top male and female participants in each age group. PPMD received a cheque from the event's warriors, marking another step forward in the fight against Duchenne. The community's support was palpable, underscoring the collective determination to achieve PPMD's mission. A heartfelt thank you goes out to all participants, sponsors, and donors for their unwavering support and commitment.

 F-M Family Champions Duchenne Awareness at Coach to Cure MD Event

The Prior family of Fayetteville-Manlius Schools is making strides in raising awareness for Duchenne muscular dystrophy through the annual Coach to Cure MD event. Charlie Prior, a spirited third grader diagnosed with Duchenne at age three, has shown remarkable improvements thanks to a new gene therapy drug. His mother, Cheryl, describes these advancements as miraculous, noting Charlie's increased mobility, independence, and happiness. The family actively shares their journey to support other Duchenne families, emphasising the importance of community and advocacy.

A highlight for Charlie was his role as an ambassador at Syracuse University's football game against Holy Cross. Organised by Parent Project Muscular Dystrophy and the American Football Coaches Association, this event sees coaches nationwide donning patches to raise awareness and funds for Duchenne research. Meeting SU head coach Fran Brown and his family, and cheering from the 10-yard line, created unforgettable memories for Charlie and his family, underscoring the event's impact and the ongoing fight against Duchenne.

Innovative Therapy Enhances DMD Treatment Efficacy

Researchers have developed a heteroduplex oligonucleotide (HDO) technology to enhance the delivery and efficacy of phosphorodiamidate morpholino oligomers (PMOs) in treating Duchenne muscular dystrophy (DMD). This innovative approach involves a lipid-ligand-conjugated complementary strand hybridised with PMOs, significantly improving tissue uptake in mdx mice. The results? Normalised motor functions, muscle pathology, and serum creatine kinase levels, with restored dystrophin expression in key tissues.

The study also highlights the potential of PMO-based HDOs to address cardiac and central nervous system abnormalities without adverse effects. By increasing serum albumin binding and improving blood retention and cellular uptake, this technology offers a promising avenue for exon-skipping therapies in DMD and other genetic disorders.

AskBio and Belief BioMed Partner for Gene Therapy Innovations

AskBio, a gene therapy company under Bayer, has teamed up with China's Belief BioMed (BBM) to develop new gene therapies targeting liver diseases. This partnership aims to leverage BBM's advanced vector technologies and AskBio's extensive clinical programmes to address high unmet medical needs. Both companies bring a wealth of expertise, with BBM's innovative capsid technology and AskBio's diverse therapeutic pipeline, including treatments for conditions like Parkinson's and muscular dystrophy.

The collaboration is built on a shared vision and mutual trust, with both companies eager to explore the potential of next-generation gene therapies. AskBio's CEO, Gustavo Pesquin, emphasised the importance of working with like-minded partners to advance their pipeline assets. Meanwhile, BBM's co-founder, Xiao Xiao, highlighted their achievements in gene therapy research and production. This partnership promises to be a significant step forward in the quest for effective treatments for severe genetic and chronic diseases.

Sarepta to Present New Neuromuscular Data at WMS 2024

Sarepta Therapeutics is set to unveil new data from its neuromuscular portfolio at the 2024 World Muscle Society Congress in Prague. Highlights include fresh safety and efficacy results from the delandistrogene moxeparvovec clinical development programme, with a particular focus on Duchenne muscular dystrophy (DMD). Among the anticipated presentations are findings from the EMBARK study, showcasing skeletal muscle and cardiac MRI outcomes, and a five-year functional analysis from Study SRP-9001-101, the longest-term data for a gene therapy in DMD to date.

In addition to these, Sarepta will present a late-breaking poster on the long-term safety and tolerability of delandistrogene moxeparvovec, alongside several other poster presentations covering various aspects of DMD and limb-girdle muscular dystrophies. This congress promises to be a treasure trove of insights, reflecting Sarepta's commitment to advancing precision genetic medicine. For those keen on the nitty-gritty details, the full programme is available on the WMS 2024 website.

MDA Engage Symposiums Provide Crucial Updates on Neuromuscular Diseases

The Muscular Dystrophy Association (MDA) is hosting a series of Engage Symposiums to provide updates and connections for those affected by neuromuscular diseases (NMDs). These free, in-person events feature disease-specific sessions and general talks on NMDs, with experts sharing the latest on treatments, equipment, and nutrition.

Upcoming Events:
Atlanta: Oct. 5, covering ALS, Duchenne, and Becker muscular dystrophies.
Stanford: Nov. 2, focusing on a range of NMDs including SMA and myasthenia gravis.
Irvine and Dallas: Nov. 9, addressing various NMDs and ultra-rare conditions.

Key Features:

Expert Interaction: Attendees can pose questions directly to clinicians.
Community Building: Opportunities to meet others with similar diagnoses and share coping strategies.