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.

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.

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.

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.

Patient registries represent an important method of organizing “real world” patient information for clinical and research purposes. Registries can facilitate clinical trial planning and recruitment and are particularly useful in this regard for uncommon and rare diseases. Neuromuscular diseases (NMDs) are individually rare but in aggregate have a significant prevalence. In Canada, information on NMDs is lacking. Barriers to performing Canadian multicentre NMD research exist which can be overcome by a comprehensive and collaborative NMD registry.

We describe the objectives, design, feasibility and initial recruitment results for the Canadian Neuromuscular Disease Registry (CNDR).

The CNDR is a clinic-based registry which launched nationally in June 2011, incorporates paediatric and adult neuromuscular clinics in British Columbia, Alberta, Ontario, Quebec, New Brunswick and Nova Scotia and, as of December 2012, has recruited 1161 patients from 12 provinces and territories. Complete medical datasets have been captured on 460 “index disease” patients. Another 618 “non-index” patients have been recruited with capture of physician-confirmed diagnosis and contact information. We have demonstrated the feasibility of blended clinic and central office-based recruitment. “Index disease” patients recruited at the time of writing include 253 with Duchenne and Becker muscular dystrophy, 161 with myotonic dystrophy, and 71 with ALS.

The CNDR is a new nationwide registry of patients with NMDs that represents an important advance in Canadian neuromuscular disease research capacity. It provides an innovative platform for organizing patient information to facilitate clinical research and to expedite translation of recent laboratory findings into human studies.

To explore the experiences of people with advanced cancer and/or their caregivers accessing out-of-hours care.

The organisation and delivery of out-of-hours in the United Kingdom has undergone major reforms over the past three decades culminating in the new General Medical Service contract in 2004. There are concerns around continuity of care for patients with complex needs under the new arrangements.

A qualitative interview study was undertaken recruiting patients from two primary care trusts in Southwest England. Semi-structured interviews were conducted with 28 people with advanced cancer and/or their caregivers who had recently requested out-of-hours care. Interviews were recorded, transcribed and analysed thematically.

Two main themes were identified including the legitimacy of seeking help and continuities of care. Most participants were reluctant to seek help, finding it difficult to decide whether their needs were sufficient to contact services. The degree to which services legitimised participants’ requests mediated their experiences. Distress arose when services were dismissive of their needs, whereas respondents were appreciative of clinicians who provided them with reassurance. Participants reported a lack of relational and informational continuity of care. Consulting with an unfamiliar clinician out-of-hours raised doubts in some participants’ minds about the quality of care. Some participants recounted episodes in which there were problems with pain management. While the themes suggest that the delivery of out-of-hours care as a whole was not always perfect, around-the-clock access to professional sources of support and reassurance was highly valued. However, the transfer of information to out-of-hours providers remains a key challenge; participants did not understand why out-of-hours providers could not access more information on their medical histories given the level of computerisation within the National Health Service. The findings highlight the need to improve continuity between in-hours and out-of-hours services for patients with complex needs.