Cure CMD in Attendance: Q1 2025 Scientific Conference Highlights

European Neuromuscular Centre International Workshop

At the start of 2025, Cure CMD co-organized and participated in an ENMC International Workshop in the Netherlands—to establish a systematic process for developing and updating subtype-specific care guidelines. This initiative is a critical step toward advancing evidence-based care and improving health outcomes across the spectrum of congenital muscular dystrophies.

MDA Gene Therapy Summit

Next stop was our attendance at the 4th MDA Gene Therapy Summit, a series of meetings initiated to address emerging challenges in safely delivering adeno-associated virus (AAV)-mediated gene therapies for neuromuscular disorders (NMDs). Chaired by Carsten Bönnemann (NINDS, NIH) and Barry Byrne (University of Florida), this summit brought together academic and industry experts, alongside stakeholders, to openly discuss adverse events tied to clinical trials and explore hurdles in translating AAV-mediated therapies from preclinical studies to clinical applications.

During this fourth edition of the summit, an overview of current gene therapy programs in muscle disorders focused on learning from failures and strategizing solutions. Key discussions centered on innate and adaptive immune responses to components of gene therapy, such as acquired immunity to the AAV vector or immune reactions to the transgene.

Researchers shared unpublished findings proposing ideas to improve gene therapy outcomes. Innovations included immunosuppression and monitoring regimens for therapy recipients, engineering advanced capsids (the protective “skin” of the AAV vector) to evade immune reactions, and optimizing gene expression promoters to better regulate the amount of gene product delivery and improve durability of transgene expression. The summit concluded with a poignant session in which patients and caregivers shared valuable insights into the dilemmas of consenting to a gene therapy trial.

Although we are not yet testing gene therapies in CMD-affected individuals, the lessons gleaned from ongoing clinical trials in Duchenne MD, SMA, LGMD, and other muscle-wasting conditions are invaluable. These insights pave the way for safer and more informed decisions about the risk-benefit balance of gene therapy when the time arrives for CMD.

MDA Clinical & Scientific Conference

The final stop for this first quarter of 2025 was at the Annual MDA Clinical & Scientific Conference. While the conference covered gene correction therapy advancements, it also highlighted critical topics on fibrosis prevention and muscle regeneration. Diverse research teams presented findings advancing our understanding of the dystrophic muscle environment—specifically inflammatory cells, fibroblasts, and fibroadipogenic progenitors. These studies aim to discover new targets for therapeutic intervention to maintain or restore the muscle environment niche as healthy as possible, which will enhance the efficacy of both gene therapies and pharmacological interventions.

The lineup of scientific meetings with Cure CMD’s scientific engagement for the rest of the year includes the 8th International Workshop for Glycosylation Defects in Muscular Dystrophies, the American Society of Gene and Cell Therapies (ASGCT) Annual Meeting, the 5th International Meeting on Laminopathies, the World Muscle Society (WMS) Annual Meeting, and our own SciFam Conference. We will also continue our regular virtual consortium meetings for LAMA2, COLVI, and SELENON, as well as the Annual MAGIC consortium meeting (covering LMNA-CMD and COLVI-RD).

We remain committed to the CMD community by staying at the forefront of all the therapeutic advancements and improved standards of care, advocating for the inclusion of our subtypes in the pharma/biotech therapeutic pipelines, and ensuring improved quality of life for our CMD-affected community.

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