Grant: Project Grant

Spinal-bulbar muscular atrophy (SBMA) is a rare genetic disease that causes numerous health consequences. This condition has symptoms beginning in adulthood, and affects nerves and muscles, causing weakness affecting the face and neck, arms and legs, and muscles of breathing. However, this condition also affects other organs such as the heart, pancreas, liver, sensory, and reproductive systems. A pilot study from our research team showed that Indigenous people in Saskatchewan have the highest prevalence of SBMA in the world. Genetic studies showed that most of the cases are due to a founder effect, meaning that there is a common ancestor with this condition, and that the mutation has been passed on over time. In this research study, we propose to build on these preliminary results and perform a comprehensive study of SBMA. We will build and extend our existing connections to affected communities. We will bring attention to the resiliency of Indigenous people with SBMA with a photovoice study, and will highlight the needs of the SBMA community. We will collaborate with other neuromuscular specialists across Canada to aid in identifying individuals who have SBMA and invite them to participate in our study. Those who consent to participate will be asked to provide clinical information and the option to provide blood samples for further study. This will let us test potential future therapies for SBMA. Throughout, we will engage with communities to determine whether additional resources and supports can be provided to help manage this chronic health condition, and determine how we can best provide education and other support.