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Nutrition concerns are prevalent in individuals with Amyotrophic Lateral Sclerosis (ALS). Despite the prevalence of nutrition concerns, few data are available on perceptions and experiences of nutrition interventions in individuals with ALS and their caregivers; this study aimed to collect this information. An online survey was developed and hosted on Survey Monkey®. Individuals with ALS and their caregivers from Saskatchewan, Canada, were invited to complete the survey through email to attendees of the ALS Clinic (Saskatoon, Canada), and via the ALS Society of Saskatchewan Facebook page in February–March, 2021. Quantitative data were analyzed using descriptive statistics. Twelve eligible respondents completed the survey (n = 10 individuals with ALS; n = 2 caregivers). The present study found nutrition was important to respondents and there was interest in trying diets and supplements for ALS management; of note, many respondents were interested in exploring the ketogenic diet. Six (50%) respondents had weight loss concerns. All respondents would recommend consulting with a dietitian upon being diagnosed with ALS. Many respondents reported a predefined negative perception of tube feeding. The results of this study suggest that increasing the accessibility of dietitians could positively impact ALS-related care. The findings also provide guidance for dietitians to enhance nutrition care for individuals with ALS.

Background: Spinal Muscular Atrophy (SMA) is a rare disease that affects 1 in 11 000 live births. Recent developments in SMA treatments have included new disease-modifying therapies that require high quality data to inform decisions around initiation and continuation of therapy. In Canada, there are no nationally agreed upon outcome measures (OM) used in adult SMA. Standardization of OM is essential to obtain high quality data that is comparable among neuromuscular clinics. Objective: To develop a recommended toolkit and timing of OM for assessment of adults with SMA. Methods: A modified delphi method consisting of 2 virtual voting rounds followed by a virtual conference was utilized with a panel of expert clinicians treating adult SMA across Canada. Results: A consensus-derived toolkit of 8 OM was developed across three domains of function, with an additional 3 optional measures. Optimal assessment frequency is 12 months for most patients regardless of therapeutic access, while patients in their first year of receiving disease-modifying therapy should be assessed more frequently. Conclusions: The implementation of the consensus-derived OM toolkit will improve monitoring and assessment of adult SMA patients, and enrich the quality of real-world evidence. Regular updates to the toolkit must be considered as new evidence becomes available.

Background: Photovoice is a qualitative research tool increasingly utilized in the healthcare field to understand the illness experience from the patient and caregiver perspective. This is the first study to evaluate photovoice in the context of amyotrophic lateral sclerosis (ALS). Objective: A patient and caregiver centered research tool was utilized to gain a greater understanding of challenges faced when living with ALS. Methods: Eight patients and three corresponding caregivers participating by taking photographs, writing descriptive text, and participating in individual and group interviews. Inductive thematic analysis was employed to uncover recurring themes. Results: Five main themes were identified; 1) facing the diagnosis, 2) loss of function, 3) isolation, 4) health system challenges, and 5) hope. Despite the devasting impact of ALS, the majority of participants reported a surprising amount of positivity in the face of receiving this difficult diagnosis, and demonstrated incredible creativity and adaptability to meet the ensuing loss of function. However, patients and caregivers discussed feelings of isolation and health care system challenges. The importance of hope was a strong and recurring theme. Conclusions: The photovoice research tool demonstrates the profound resilience of these participants, and challenges the medical community to find ways of fostering positivity and hope throughout the ALS disease course. Further clinic and community resources, education, and supports are needed to combat the sense of isolation and health care system challenges experienced by patients and their caregivers.

POINTS CLES La sclerose laterale amyotrophique (SLA) est une maladie progressive invalidante due a une degenerescence des motoneurones dans le cerveau et la moelle epiniere; elle provoque faiblesse, atrophie musculaire, fasciculations et spasticite[1][1]. La forme la plus frequente est

To evaluate safety, dose response, and preliminary efficacy of reldesemtiv over 12 weeks in patients with amyotrophic lateral sclerosis (ALS). Methods: Patients (≤2 years since diagnosis) with slow...

Background:Spinal muscular atrophy (SMA) is a devastating rare disease that affects individuals regardless of ethnicity, gender, and age. The first-approved disease-modifying therapy for SMA, nusinursen, was approved by Health Canada, as well as by American and European regulatory agencies following positive clinical trial outcomes. The trials were conducted in a narrow pediatric population defined by age, severity, and genotype. Broad approval of therapy necessitates close follow-up of potential rare adverse events and effectiveness in the larger real-world population.Methods:The Canadian Neuromuscular Disease Registry (CNDR) undertook an iterative multi-stakeholder process to expand the existing SMA dataset to capture items relevant to patient outcomes in a post-marketing environment. The CNDR SMA expanded registry is a longitudinal, prospective, observational study of patients with SMA in Canada designed to evaluate the safety and effectiveness of novel therapies and provide practical information unattainable in trials.Results:The consensus expanded dataset includes items that address therapy effectiveness and safety and is collected in a multicenter, prospective, observational study, including SMA patients regardless of therapeutic status. The expanded dataset is aligned with global datasets to facilitate collaboration. Additionally, consensus dataset development aimed to standardize appropriate outcome measures across the network and broader Canadian community. Prospective outcome studies, data use, and analyses are independent of the funding partner.Conclusion:Prospective outcome data collected will provide results on safety and effectiveness in a post-therapy approval era. These data are essential to inform improvements in care and access to therapy for all SMA patients.

Objective: To understand current genetic testing practices at Canadian ALS clinics. Methods: An online survey and phone interviews, with clinicians practicing in 27 ALS clinics in Canada, were employed to collect data. Quantitative and qualitative analyses were conducted. Results: Ninety-three percent (25/27) of ALS clinics in Canada are routinely ordering genetic testing for familial ALS, while 33% (9/27) of clinics are routinely ordering genetic testing for sporadic ALS. Barriers to genetic testing include a perceived lack of an impact on treatment plan, difficulty in obtaining approvals, primarily from provincial Ministries of Health, and limited access to genetic counseling. Predictive testing practices were found to be the most variable across the country. The average wait time for a symptomatic patient living with ALS to see a genetic counselor in Canada is 10 months (range 0-36 months). Conclusions: Access to genetic testing, and testing practices, vary greatly across Canadian ALS clinics. There may be patients with a monogenetic etiology to their ALS who are not being identified given that genetic testing for patients diagnosed with ALS is not routinely performed at all clinics. This study highlights potential inequities for patients with ALS that can arise from variability in health care delivery across jurisdictions, in a federally-funded, but provincially-regulated, health care system. Clinical trials for both symptomatic ALS patients and pre-symptomatic ALS gene carriers are ongoing, and ALS clinicians in Canada are motivated to improve access to genetic testing for ALS.

Background: Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease resulting in muscle weakness, dysarthria and dysphagia, and ultimately respiratory failure leading to death. Half of the ALS patients survive less than 3 years, and 80% of the patients survive less than 5 years. Riluzole is the only approved medication in Canada with randomized controlled clinical trial evidence to slow the progression of ALS, albeit only to a modest degree. The Canadian Neuromuscular Disease Registry (CNDR) collects data on over 140 different neuromuscular diseases including ALS across ten academic institutions and 28 clinics including ten multidisciplinary ALS clinics. Methods: In this study, CNDR registry data were analyzed to examine potential differences in ALS care among provinces in time to diagnosis, riluzole and feeding tube use. Results: Significant differences were found among provinces, in time to diagnosis from symptom onset, in the use of riluzole and in feeding tube use. Conclusions: Future investigations should be undertaken to identify factors contributing to such differences, and to propose potential interventions to address the provincial differences reported.

ObjectiveSpinobulbar muscular atrophy (SBMA) is an X-linked adult-onset neuromuscular disorder that causes progressive weakness and androgen insensitivity in hemizygous males. This condition is reported to be extremely rare, but has higher prevalence in certain populations due to multiple founder effects. Anecdotal observations of a higher prevalence of SBMA in patients of Indigenous descent in Saskatchewan led us to perform this study, to estimate the disease prevalence, and to attempt to identify a founder effect.MethodsFor our prevalence estimation, we identified patients with confirmed SBMA diagnosis from the Saskatoon neuromuscular clinic database for comparison with population data available from Statistics Canada. For our haplotype analysis, participants with SBMA were recruited from 2 neuromuscular clinics, as well as 5 control participants. Clinical data were collected, as well as a DNA sample using saliva kits. We performed targeted quantification of DXS1194, DXS1111, DXS135, and DXS1125 microsatellite repeats and the AR GGC repeat to attempt to identify a disease haplotype and compare it with prior studies.ResultsWe estimate the prevalence of SBMA among persons of Indigenous descent in Saskatchewan as 14.7 per 100,000 population. Although we believe that this is an underestimate, this still appears to be the highest population prevalence for SBMA in the world. A total of 21 participants were recruited for the haplotype study, and we identified a unique haplotype that was shared among 13 participants with Indigenous ancestry. A second shared haplotype was identified in 2 participants, which may represent a second founder haplotype, but this would need to be confirmed with future studies.ConclusionsWe describe a very high prevalence of SBMA in western Canadians of Indigenous descent, which appears to predominantly be due to a founder effect. This necessitates further studies of SBMA in these populations to comprehensively ascertain the disease prevalence and allow appropriate allocation of resources to support individuals living with this chronic disease.

We report the recruitment activities and outcomes of a multi-disease neuromuscular patient registry in Canada. The Canadian Neuromuscular Disease Registry (CNDR) registers individuals across Canada with a confirmed diagnosis of a neuromuscular disease. Diagnosis and contact information are collected across all diseases and detailed prospective data is collected for 5 specific diseases: Amyotrophic Lateral Sclerosis (ALS), Duchenne Muscular Dystrophy (DMD), Myotonic Dystrophy (DM), Limb Girdle Muscular Dystrophy (LGMD), and Spinal Muscular Atrophy (SMA). Since 2010, the CNDR has registered 4306 patients (1154 pediatric and 3148 adult) with 91 different neuromuscular diagnoses and has facilitated 125 projects (73 academic, 3 not-for-profit, 3 government, and 46 commercial) using registry data. In conclusion, the CNDR is an effective and productive pan-neuromuscular registry that has successfully facilitated a substantial number of studies over the past 10 years.

KEY POINTS Amyotrophic lateral sclerosis (ALS) is a debilitating, progressive disease with degeneration of motor neurons in the brain and spinal cord causing weakness, muscle atrophy, fasciculations and spasticity.[1][1] Onset in the limbs, with extremity weakness and impairment in mobility, is the

Objective: Stroke guideline compliance of rural Canadian prehospital emergency medical services (EMS) care in acute stroke is unknown. In this quality assurance study, we sought to compare rural and urban care by prehospital EMS evaluation/management indicators from patients assessed at an urban Canadian stroke center.Materials and Methods: One hundred adult patients were randomly selected from the stroke registry. Patients were transported through Rural EMS bypass protocols or urban EMS protocols (both bypass and direct) to our stroke center between January and December 2013. Patients were excluded if they were first evaluated at any other health center. Prehospital care was assessed using ten indicators for EMS evaluation/management, as recommended by acute stroke guidelines. Results: Compliance with acute stroke EMS evaluation/management indicators were statistically similar for both groups, except administrating a prehospital diagnostic tool (rural 31.8 vs. urban 70.3%; P = 0.002). Unlike urban EMS, rural EMS did not routinely document scene time. Conclusion: Rural EMS responders' compliance to prehospital stroke evaluation/management was similar to urban EMS responders. Growth areas for both groups may be with prehospital stroke diagnostic tool utilization, whereas rural EMS responders may also improve with scene time documentation.

Kerri Lynn Schellenberg,1 Gregory Hansen2 1Department of Medicine, Division of Neurology, University of Saskatchewan, Saskatoon, SK, Canada; 2Department of Pediatrics, Division of Critical Care, University of Saskatchewan, Saskatoon, SK, Canada Purpose: Multidisciplinary clinics (MDC) have become the standard of care for management of amyotrophic lateral sclerosis (ALS). No studies however, have captured patients’ perspectives during a transition to ALS MDCs. Recently, an ALS MDC emerged from a single-physician clinic in Saskatoon, Canada, providing patients with a unique exposure to two different models of care. Patients and methods: Fifteen patients with ALS participated in semi-structured interviews that were digitally recorded and transcribed. Two independent researchers performed an inductive thematic analysis. Information was coded based on emerging and a priori themes. An iterative process followed involving discussion and reexamination of the themes until consensus was reached. Results: All patients cited the convenience of integrated care as an advantage. Other advantages included clinical expertise and advocacy potential. Travel and reduced mobility were the most commonly discussed barriers/disadvantages of MDC attendance. The impact of geography and weather appeared to augment both the appreciation of an integrated approach and the impediment of travel, compared to the existing literature. The need for individualized care was demonstrated by the conflicting viewpoints obtained from participants. Most patients felt additional practitioners and supports for both patients and caregivers were required. Conclusion: ALS patients transitioned to MDCs reported many of the advantages and disadvantages reported elsewhere. A novel perspective of a MDC’s advocacy potential was recognized, and the need for an innovative approach to meet demands for individualized care was highlighted. Keywords: amyotrophic lateral sclerosis, motor neuron disease, multidisciplinary care, qualitative research

This retrospective study reviewed hospital and intensive care unit (ICU) admissions for patients with amyotrophic lateral sclerosis (ALS) in Saskatoon, Canada, between 2005 and 2017. The purpose was to understand hospital utilization and admission patterns for patients with ALS in the absence of coordinated multidisciplinary care.Hospital/ICU admissions were detected at two hospitals in Saskatoon using the International Classification of Diseases (ICD-10) coding for ALS. Patient demographic data, hospitalization and pre-hospitalization information were recorded, and descriptive statistics were generated.Of the 83 patients identified, 52% were male with a mean age of 66.8 years. Fifty-two percent were undiagnosed prior to hospitalization, with significantly longer ICU stays compared to those diagnosed prior to admission (49.4 ± 46.6 vs. 21.9 ± 32.0 days; p = 0.0003). Eighty-nine percent of all admissions (n = 118) were non-elective. Although respiratory dysfunction was the most common reason for admission (n = 41, 49%), and all ICU admissions were for respiratory dysfunction, only 2% were on non-invasive ventilation prior to ICU admission. All tracheostomies (n =10, 12%) were placed non-electively, and 50% were in previously undiagnosed patients. Thirty-four percent (n = 28) of patients died in hospital in an ICU (n = 8, 29%) and hospital wards (n = 20, 71%).ALS patients in Saskatoon had high non-elective admission rates, with over half undiagnosed prior to hospitalization, and high rates of emergent tracheostomy. This study highlights the need for early diagnosis and coordinated multidisciplinary care for improved outpatient management of ALS to reduce lengthy and complicated hospitalizations.