Project 446797

Genetic neuromuscular diseases (NMDs) affect 70,000 Canadians and can cause severe weakness, muscle wasting and premature death. New treatments are emerging from clinical trials and persons with NMDs are receiving more complex care at home. Many individuals with genetic NMDs are living longer with improved treatments. However, the socioeconomic and employment impact of the disease on affected Canadians with genetic NMDs and their families is poorly understood. Our goal is to assess the social and economic burden of Canadians living with genetic NMDs by using web-based surveys to assess quality-of-life, healthcare resource use, work productivity, and effect on schooling and careers. We have assembled a team of Canadian experts in genetic NMDs, health economics and importantly, patient partners to execute this proposal. Aim 1. Estimate social and economic impact focused on the indirect costs and social burden of patients living with inherited diseases and caregivers. Individuals with genetic NMD and their caregivers will be invited through the National Muscular Dystrophy Canada advocacy group to complete a cross-sectional survey that aims to measure patient characteristics, treatment, disease burden, direct and indirect healthcare costs, and impact on work and school. We will also compare with these indirect costs with those associated with common diseases (including Diabetes, COPD). Aim 2: Determine the relationship between disease management and the social and economic burden of genetic NMDs. We will use statistical analysis to assess how patient characteristics and disease management are associated with health-related quality of life and economic costs of genetic NMD. By assembling one of the largest cohorts of patients with genetic disorders in Canada, the results of this study will allow patient organizations and government to make informed decisions, influencing policy in health and health system planning to better support patients with genetic NMDs.