Funding outcome

As many as 10% of people across the globe have a rare disease. Most rare diseases are genetic, and have been described at a fast pace in the last 15 years. This has opened the door for the development of specific gene therapies, which are expected to positively impact patients, our health system, and society as a whole. At the end of 2024, the governments of Canada and Alberta signed the National Strategy for Drugs for Rare Diseases, the goal of which is to improve access to rare disease screening, diagnosis, and treatment. So far, Health Canada has approved therapies for four monogenic conditions. Among them is spinal muscular atrophy (SMA), which causes increasing loss of muscle mass and strength. Most patients begin experiencing symptoms within the first 6 months of life, and life expectancy is less than two years of age. SMA exemplifies the use of precision medicine in Alberta. Newborn screening for SMA has been routinely done since 2021, and gene therapy has been funded since 2022. However, SMA gene therapies have only been shown to work in limited cases and long-term effects are unknown. Despite this, parents of children with SMA consider gene therapy their first-choice treatment. Moreover, there is anecdotal evidence of changing parental attitudes towards prenatal testing given the possibility of early diagnosis and treatment of SMA. Using mixed methods consisting of a survey followed by participant interviews, this study will explore the experiences and views of parents of affected children, as well as adult SMA patients, with gene therapy, prenatal testing, and family planning. Collaborating with both local and national SMA groups, we ultimately aim to inform the genetic and medical professional community about current perceptions of a treatable genetic condition as we prepare for a transformational systemic change with the growing number of anticipated new genetic therapies.