Introduction: Neuromuscular diseases (NMDs) are rare multisystem, genetic or acquired disorders causing weakness and/or sensory loss. It is essential for governments, insurance providers, and broader society to have a better understanding of the burden of illness of NMDs. Our goal is to assess the social and economic burden of Canadians living with NMDs, encompassing schooling and education achievement, health-related quality-of-life, and labour force participation and productivity. Methods and analysis: We will conduct a national, cross-sectional survey of individuals living with a NMD and their caregivers who are members of Muscular Dystrophy Canada and/or are patients within our national network of neuromuscular clinics. Surveys can be completed online or via telephone. The specific sub-sections of the questionnaire will differ based on respondent’s profile, whether they are 1) a minor living with a NMD, 2) an adult living with a NMD, 3) an adult who is a caregiver for someone living with a NMD, or 4) an adult who both lives with a NMD and is a caregiver for someone with a NMD. We will use descriptive statistics to describe distributions and ranges of the social and economic measures. Pearson correlations for continuous data and Spearman rho for rank data will be used to detect the strength of association of socio-demographic factors, disease characteristics, and social and economic impacts of NMDs. Ethics and dissemination: The study protocol has been approved by the Ottawa Health Science Network Research Ethics Board (Protocol ID # 20210601-01H). This study will provide the overall impact of NMD on costs and health-related quality of life, disseminated via a series of manuscripts which will include both between- and within-NMD/NMD subtype comparisons. The data obtained will guide governmental policy development and inform patient organisation programs to deliver more effective supports to individuals and families affected by NMDs.

Background: Disease-modifying therapies for persons with spinal muscular atrophy (SMA) has led to greater need and demand for relevant outcomes assessments. Such tools help monitor disease progression, assess treatment response, and inform clinical management. Canadian SMA clinicians participated in a Delphi process to achieve a 2021 national consensus on recommended outcomes, recognizing future reassessment would be essential given the evolving field and gaps in patient-reported and bulbar measures. Objective: Derive updated Canadian consensus of recommended outcome measures for adults with SMA. Methods: A national consensus workshop was held with SMA clinicians, patient/family representatives, research leaders, national registry and advocacy organizations. Clinics and registry experience and data were presented and discussed, utility of current and additional outcomes reviewed. Long and short lists of measures were generated, with voting to derive consensus. Results: Practical implementation, value of data, and relevance to persons with SMA were key considerations. Consensus was achieved to ‘think outside the box’, recognizing a spectrum of function and need to choose the right outcome measure for the right patient at the right time. Measures with greater acceptance for adults were selected, and bulbar measures introduced. Eight outcome measures are recommended; 4 motor, 2 respiratory and 2 patient reported domains, with use based on the individuals level of function. The Revised Upper Limb Module was deemed to have broadest applicability except in the strongest and weakest adults. Additional measures are included as optional and exploratory. Conclusions: Employing measures meaningful for clinicians, researchers, and persons living with SMA is essential to ensuring quality data collection and an engaged patient-centred clinical team. Clinicians should select measures based on the person's functional ability and goals. Building a national community of practice to support clinical and research practice, including standardized outcome measure training, will be a key next step in dissemination and advocacy.

Introduction: Limb‐girdle muscular dystrophies (LGMDs) encompass a rare and genetically diverse set of disorders, posing challenges in diagnosis due to the absence of distinct pathological features, leading to frequent misdiagnoses and inadequate symptom management. Yet, there is a scarcity of published data on how patients perceive the diagnostic journey of LGMD. Our aim was to unveil the firsthand experiences of individuals with LGMD to gain insight into their perspective on the diagnosis process. This study comprehensively captures the LGMD patient and caregiver experiences—from symptom onset through diagnosis to current disorder management. Methods: Insights into the lived experience of LGMD were consolidated from semi‐structured interviews and a cross‐sectional mixed‐methods survey of quantitative and qualitative questions. Quantitative data were analysed using descriptive statistics and frequencies, while inductive content analysis was applied to qualitative responses. During the validation phase, patient authors validated and prioritised the insights and overarching themes. Results: From 108 participants (104 people with LGMD and 4 parent caregivers), five overarching themes were identified. These themes include (1) difficulty with diagnostic process, with 8 years noted as time from the symptom onset until they obtain the definitive diagnosis; (2) difficulty obtaining genetic testing and specialist care; (3) sense of disconnect with healthcare professionals, often resulting from lack of knowledge and awareness of the condition; (4) a state of emotional distress, feelings of hopelessness, depression, fear and anxiety with the diagnosis process; and (5) impact on mobility and ambulation. Conclusion: The LGMD diagnosis journey is marked by barriers and misdiagnoses, leading to considerable diagnostic delays. Overcoming these challenges requires increased awareness among healthcare professionals and improved patient access to genetic testing. Patient or Public Contribution: Patients with LGMD were involved as research partners in all phases of this study, including identifying the research question and the need for an assessment of the diagnosis journey for LGMD in Canada. The patients also worked with the authors to interpret and validate the data collected and contributed to the preparation of the manuscript by participating in the review and editing process.

Introduction: Neuromuscular diseases (NMDs) impose multifaceted challenges on individuals and their families, often resulting in significant medical and non‐medical expenses. While cost‐of‐illness (COI) studies provide valuable quantitative data, few explore the lived experience of financial strain. This study aims to identify the complex, often hidden, financial impacts experienced by individuals with NMDs and their families. Methods: We conducted a qualitative study involving four virtual semi‐structured focus groups, with 58 participants (76% patients and 24% caregivers). Participants were recruited from Muscular Dystrophy Canada's database and had previously completed the national BIND COI survey. Participants shared firsthand accounts of direct non‐medical costs, psychosocial burdens and opportunity costs, highlighting hidden expenses, substantial out‐of‐pocket costs, and the broader financial and emotional toll on families. Thematic analysis of the transcripts of the discussions was performed using an inductive approach, guided by a rare‐disease‐specific socio‐economic burden framework. Results: Four key themes emerged: informational costs (lack of awareness/support for navigating financial resources), time‐related costs (time spent advocating for supports), opportunity costs (loss of income or career advancement), and costs to independence (emotional toll and out‐of‐pocket costs for assistive devices and home modifications). Conclusion: This study identified four interconnected categories of hidden costs for people with NMDs and their families: informational burdens, administrative and advocacy demands, employment‐related opportunity costs, and reduced independence tied to out‐of‐pocket spending on equipment and home modifications. These findings reveal how financial and emotional pressures accumulate beyond what traditional COI estimates capture. Greater attention to these costs is critical for fostering equitable and sustainable healthcare systems. Patient or Public Contribution: This study was designed and conducted in partnership with individuals living with NMDs and caregivers. Three trained patient and family research partners contributed to the development of the focus group guide and interpretation of results. All participants contributed their lived experiences to inform and validate key findings. Their input was central to the design, analysis and preparation of this manuscript, ensuring alignment with community priorities.

Background and ObjectivesNewborn screening (NBS) for spinal muscular atrophy (SMA) and reimbursement of disease-modifying therapies (DMTs) are managed provincially in Canada, creating inequities in...

Background: Rare diseases affect over 300 million people globally, yet clinical trial conduct in rare disease populations remains complex due to small patient numbers, geographic dispersion, heterogeneous phenotypes, and limited trial infrastructure. Neuromuscular diseases (NMDs) exemplify these challenges. Coordinated trial networks have emerged as a strategy to improve feasibility, access, and trial performance. Methods: Guided by the Consolidated Framework for Implementation Research (CFIR), we conducted a multi-phase qualitative needs assessment involving neuromuscular investigators and clinical trial personnel across Canada ( n = 34) and clinical trial personnel ( n = 16) across Canada. Data were analyzed using conventional qualitative content analysis to identify barriers, facilitators, and capacity-building needs informing the early implementation of a Canadian Neuromuscular Clinical Trial Network (CTN). Results: Key barriers included burdensome feasibility processes, limited workforce capacity, lack of centralized trial visibility, and fragmented coordination across stakeholders. Trial personnel highlighted unmet needs in disease-specific training, mentorship, peer networking, and workforce sustainability. Early Neuromuscular CTN strategies, including centralized feasibility triage, a national Community of Practice, one-on-one operational monitoring, mentorship, and alignment with patient and registry infrastructures directly addressed these challenges. Conclusion: The Neuromuscular CTN describes a pragmatic and potentially transferable model for strengthening rare disease clinical trial ecosystems. By ensuring trials not only occur but are optimally supported and performed, coordinated networks can enhance trial readiness, equity of access, and long-term sustainability in rare disease research. Clinical trial number: Not applicable.