Grant: Project Grant

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy, affecting approximately 1 in 8,000 people worldwide. It causes progressive muscle weakness, beginning in the face, shoulders, and upper arms, and can eventually limit mobility and breathing. There is currently no cure or approved treatment for FSHD. The disease is caused by abnormal activation of a gene called DUX4 in muscle, which damages muscle fibres over time. Our research focuses on a promising approach called antisense oligonucleotide (ASO) therapy. ASOs are short, synthetic molecules designed to bind to RNA and block the production of harmful proteins. We have developed ASOs that specifically target the RNA needed to make DUX4, preventing it from causing damage. In laboratory studies, our ASO candidates have successfully reduced DUX4 levels and improved muscle cell health in cell and animal models. This project will take the next step toward translating this therapy into a treatment for patients. We will optimize the drug's delivery, evaluate its safety, and develop strategies for efficient delivery into muscle. By partnering with our collaborators, we aim to advance this therapy from the laboratory to clinical trials, ultimately providing the first targeted treatment for FSHD. Our goal is to bring hope and tangible benefits to people living with this debilitating condition.