Grant: Project Grant

Oculopharyngeal muscular dystrophy (OPMD) is a rare inherited disease that causes difficulty swallowing, eyelid drooping, and weakness of the shoulders, hips, and legs. Although OPMD affects about 1 in 1,000 French Canadians-making it one of the most common muscular dystrophies in Canada-it remains poorly studied because it is rare in other parts of the world. With new therapies now in development, there is an urgent need to identify objective measures of disease activity. These objective measures are critical for clinical trials, to track how OPMD progresses and how patients respond to treatment. Our preliminary research identified specific muscles (such as the tongue, shoulder, and hip) and protein markers that may serve as early indicators of OPMD. Our study will build on these findings by studying the largest Canadian cohort of patients living with OPMD. This national, multi-centre study (Ottawa, Montreal, Saguenay, Calgary) will recruit 100 people with OPMD and 50 healthy controls and will evaluate three powerful approaches: muscle imaging (MRI), studying proteins in blood (proteomics) and advanced clinical assessments. We will: 1) Identify MRI patterns of muscle involvement in OPMD to measure worsening of disease over time. 2) Apply proteomics to identify blood signatures of OPMD to measure worsening of disease over time. 3) Combine clinical, imaging and proteomics data using machine learning. Our project will identify sensitive biomarkers that can predict how OPMD worsens over time. This will help assess OPMD medications for clinical trials and identify patients suitable for future clinical trials (at the ideal stage of disease). Ultimately, this work will guide patient care and improve quality of life for people living with OPMD and reduce the impact of the disease on patients, families, and the healthcare system. Our project aims to find simple, accurate biomarkers that can show how OPMD changes over time to help test new treatments in clinical trials