NMD4C: The Neuromuscular Disease Network for Canada

Affecting approximately 1 in 10,000 live births, Spinal Muscular Atrophy (SMA) is a rare neuromuscular disorder characterized by the loss of motor neurons and progressive muscle wasting, making it the leading genetic cause of infant mortality worldwide.
August is Spinal Muscular Atrophy (SMA) Awareness Month, and we are thrilled to feature high-impact research led by members of the NMD4C community!
Published recently in Annals of Neurology, a study titled “Maternal-Fetal Administration of Risdiplam Partially Rescues the SMNΔ7 Mouse Model of Spinal Muscular Atrophy” explores the potential of early prenatal therapeutic interventions for SMA.

Key Findings:

• Prenatal administration of a risdiplam-like compound was safe for pregnant female mice.
• The progeny demonstrated increased survival, motor function, weight gain, and preserved muscle fiber area.
• Results suggest that combining early prenatal intervention with postnatal therapy may offer optimal outcomes for SMA.

A huge congratulations to Lead author Dr. Emma Sutton, and co-author Rebecca Yaworski (members of the NMD4C Basic Science Trainee Committee, BSTC), as well as our Investigators Drs. Rashmi Kothary and Hugh McMillan, and Ariane Beauvais on this work from the Ottawa Hospital Research Institute and CHEO!

This work was also made possible with the support of NMD4C, Cure SMA, Muscular Dystrophy Canada and CIHR Institute of Musculoskeletal Health and Arthritis (IMHA)

Download the full publication

Watch the Video Abstract