MDA 2025: Advancing Care in DMD and SMA
Ryan Haumschild, PharmD, MS, MBA, CPEL; and Perry B. Shieh, MD, PhD, discuss how gene therapies like delandistrogene moxeparvovec for Duchenne muscular dystrophy and onasemnogene abeparvovec for spinal muscular atrophy are showing promising long-term efficacy in stabilizing motor function and potentially transforming treatment outcomes, while addressing ongoing challenges including ensuring equitable access, managing high costs, and the need for sustained durability data.
Episodes
June 16th 2025EP. 1: Advancements & Challenges in Muscular Dystrophy Treatment
Panelists discuss how recent advancements in muscular dystrophy treatment have evolved toward truly disease-modifying therapies using gene replacement, antisense oligonucleotides, and gene transfer technologies, while highlighting the ongoing challenges of identifying at-risk populations and collecting comprehensive safety and efficacy data.
June 16th 2025EP. 2: Data on Duchenne Muscular Dystrophy Treatment From MDA 2025
Panelists discuss how data from MDA 2025 demonstrate that delandistrogene moxeparvovec (gene therapy for DMD) shows statistically significant improvements in motor function outcomes including North Star Ambulatory Assessment, time to rise from floor, and 10-m walk/run compared with external control groups over 2 years of treatment.
June 23rd 2025EP. 3: Key Takeaways From DMD Treatment Data
Panelists discuss how the pooled 3-year data for delandistrogene moxeparvovec show sustained motor function stabilization and less deterioration compared with natural history, providing confidence in the therapy’s long-term benefits while acknowledging the need for survival data and addressing concerns about potential transgene dilution over time.
June 23rd 2025EP. 4: Overview of Spinal Muscular Atrophy
Panelists discuss how spinal muscular atrophy is an autosomal recessive genetic disease affecting motor neurons with 3 currently approved disease-modifying therapies that restore SMN protein expression, including 2 requiring ongoing treatment and 1 gene transfer therapy (onasemnogene abeparvovec) approved only for patients under 2 years of age.
June 30th 2025EP. 5: Gaps in Care for Childhood SMA
Panelists discuss how gaps in SMA care persist despite highly effective treatments, particularly regarding racial and ethnic disparities in research participation and global access challenges due to high costs and infrastructure limitations in developing countries.
June 30th 2025EP. 6: The Impact of Intrathecal Onasemnogene Abeparvovec Therapy in SMA
Panelists discuss how intrathecal delivery of onasemnogene abeparvovec in the STEER study demonstrates statistically significant motor function improvements in older patients with SMA (ages 2-18 years) with favorable safety profiles, potentially expanding gene therapy access beyond the current age restriction of under 2 years.
July 7th 2025EP. 7: Looking to the Future in MD Treatment
Panelists discuss how exciting ongoing research efforts are expanding similar gene therapy technologies to other muscular dystrophies like FSHD and myotonic dystrophy, using strategies to knock down rather than restore gene expression for these autosomal dominant conditions.
July 7th 2025EP. 8: The Patient Perspective
Panelists discuss how patient perspectives on new therapies center around clinically meaningful outcomes and survival while balancing individual risk tolerance, with some patients willing to accept higher risks for potentially transformative treatments in devastating diseases.
