Rare diseases, such as neuromuscular disease (NMD), present a plethora of challenges and barriers in clinical and research practice. Moving knowledge into action for more effective practice, programs and policy can be challenging using traditional knowledge translation (KT) frameworks and practices: existing KT frameworks were developed with common diseases in-mind and have not addressed the specific considerations surrounding rare diseases for which gold standard evidence is not always available. In addition to generally ‘lower-level’ evidence, there is limited awareness of NMDs and practice guidelines. Knowledge translation products are not well known by clinic teams, allied health professionals, patients and their families and typically apply to scarce knowledge users. Patients with NMDs regularly encounter challenges in healthcare professionals’ expertise and in practice guidelines, and this causes a high level of uncertainty and ambiguity in healthcare processes (e.g., misdiagnoses, delays in specialized care and treatment). It also places an ‘emotional burden’ on patients to serve as knowledge users and knowledge champions, whereby they are tasked with not only sourcing but also sharing information to inform decision-making. Such barriers have highlighted the urgent need for a coordinated effort to develop, disseminate, implement or monitor uptake of KT products.
Since its inception in early 2020, the Neuromuscular Disease Network for Canada (NMD4C), a pan-Canadian network has brought together the country’s leading clinical, scientific, technical, and patient expertise to improve care, research, and collaboration in neuromuscular disease. NMD4C dedicated a work package to KT in order to address gaps in mobilizing knowledge and improving awareness of NMDs. The NMD4C KT working groups engages patient experts, patient organizations, local champions in NMD clinics (physicians and allied health) and researchers to tailor information for different audiences, provide consultation and training on integrated and end-of-grant KT plans for investigators, adapt and disseminate existing clinical guidelines in the Canadian context, and create clinician- and patient-friendly materials. In the case of one neuromuscular disease, Spinal Muscular Atrophy, where robust changes have been observed in the clinical and research landscape recently, NMD4C has successfully introduced unique KT approaches and tools to positively influence clinical care, outcomes and public policy.
NMD4C has meaningfully partnered with patient advocacy groups to influence health policy decisions (i.e., advocacy for newborn screening, influencing access and reimbursement to life-changing therapies with impactful submissions to drug regulators); leveraged social media platforms to disseminate key messages and information and reach a broad audience; convened medical and scientific experts to publish a consensus statement on a newly-approved gene-replacement therapy; developed a clinical practice guideline adaption process; worked towards a decision-aid tool to support clinicians, patients and families to make informed treatment decisions; and held accredited virtual education webinars which has made sharing clinical and research updates easier and has facilitated uptake of knowledge. In this presentation, we aim to share the barriers and facilitators to KT for neuromuscular disease, some of which were amplified during the pandemic, and provide effective KT activities that have improved access and uptake of information that have raised standards of care and research.Cynthia Gagnon poster