The Neuromuscular Disease Network for Canada (NMD4C)
The Neuromuscular Disease Network for Canada (NMD4C) is a pan-Canadian network that brings together the country’s leading clinical, scientific, technical, and patient expertise to improve care, research, and collaboration in neuromuscular disease (NMD).
New diagnostic methods and recent advances in translational research have dramatically improved diagnostic rates and increased opportunities for therapy development for NMDs, but their rarity and diversity make interdisciplinary collaboration and national and international networking essential to future progress. For such collaboration to be meaningful, patients and researchers must work together as partners to identify health problems and research gaps, set priorities and co-develop appropriate outputs that enable the best outcomes for Canadian patients in terms of diagnosis, clinical follow-up, clinical trials, therapy development and research priorities.
NMD4C launched in January 2020 with three years of funding from CIHR IMHA and Muscular Dystrophy Canada (MDC). The network is led by our steering committee of five: Dr. Hanns Lochmüller (lead investigator), Dr. James Dowling (representing clinical treatment of children), Dr. Jodi Warman Chardon (representing clinical treatment of adults), Dr. Rashmi Kothary (representing basic science), and Stacey Lintern (representing our partner organization and funder MDC). The network also includes two full-time staff (a network manager and a communications coordinator), 19 investigators/collaborators, and (as of September 2020) 242 members of all stakeholder groups (clinicians, researchers, patients/families, advocates, and pharmaceutical/biotechnology professionals) spanning from Vancouver to Halifax. In addition to our website, NMD4C has hundreds of followers/subscribers on Twitter, LinkedIn, Facebook, and our monthly newsletter.
The network’s goals are to:
- Formalize and sustain a network of NMD stakeholders united around a cohesive three-year work plan
- Train and educate the next generation of NMD stakeholders
- Raise the standard of care for NMD and access to therapies across Canada
- Strengthen biomedical and clinical infrastructure to build research capacity in Canada
We will achieve these goals with our many ongoing initiatives including genomics training; trial capacity building and educational summits; expert patient capacity building; empowerment of early career professionals; clinical guidelines; patient registries; biobanking and clinical trial coordination resources.
Genomics training
Canadian geneticists are world leaders and trailblazers in using genomics to identify the genetic causes of NMDs and other rare diseases. For neurology, where many of our patients have inherited NMDs, it is time to incorporate genomics into standard care. This is especially true since, unlike most rare diseases, some NMDs are amenable to targeted therapies, so accurate diagnosis is of critical importance.
To date, genomics training for NMD clinicians and scientists has been scarce and not well coordinated. To ensure patients benefit from these new diagnostic and therapeutic opportunities, training of NMD clinical specialists has been identified as a particular need. NMD4C will deliver ‘virtual NMD rounds’ every three months where neuromuscular clinicians and scientists will learn how to use and interpret genomic data in the context of clinical, electrophysiological, imaging, and myopathological findings and solve complex diagnostic cases. At virtual NMD rounds a multidisciplinary team (e.g., the responsible physician, geneticist, genetic counsellor, and genomic scientist) will present and discuss cases and consider a variety of genomic and laboratory data. NMD4C will also develop an NMD genomics curriculum for neuromuscular fellowship programs.
Trial capacity building and educational summits
Canadian hospitals and clinical researchers are involved in many cutting-edge NMD trials, but training of NMD clinicians and trial personnel, including study coordinators and physiotherapists, has been led by industry sponsors on an ad hoc basis. Coordinated training, standardized across trials and indications is necessary to obtain the high-quality data needed for efficacy trials and post-marketing surveillance of very expensive NMD treatments. NMD4C will provide training opportunities for NMD clinicians and trial personnel in the collection, interpretation, and reporting of outcome measures, biomarkers, and other clinical research data. We will develop and integrate a clinical research curriculum for personnel involved in NMD trials through e-learning tools, and for neuromuscular fellowship programs. NMD4C will also partner with industry to launch NMD summits that bring together Canada’s NMD community and facilitate industry-sponsored training for natural history studies, clinical trials, standards of care, and post-marketing surveillance such as the SMA summits successfully launched by Biogen, CAN-NMD, and MDC in 2018 and 2019.
Expert patient capacity building
Canadians with NMD, their families, and advocates are increasingly asked to take an active role in research following the SPOR Patient Engagement Framework developed by CIHR and give input and support decisions for clinical research, marketing authorizations, and payer decisions. Research and advocacy training empowers patients and ensures they have the confidence and knowledge needed to bring their expertise forward to guide discussions and inform decisions regarding health care, research, and therapy development with policy makers, industry and scientists. Working with EURORDIS, we will leverage their Open Academy model to develop an easy-to-use and accessible Canadian NMD patient advocacy module with electronic and written material.
Empowerment of early career professionals
Canadian early-career scientists are more likely to develop a full understanding of the translational needs of NMD and make a long-term commitment to NMD if they are provided with opportunities to meet patients in clinic. Moreover, young NMD scientists are keen to exchange ideas and support each other if provided with a forum or community. Thus, NMD4C will provide NMD clinical placement opportunities (1 week each) to early career researchers through its clinical members as well as host regular early career webinars where senior faculty present on a topic of interest such as an overview of the recent trial results in a disease area and a biannual forum where they can discuss their research and experiences with their peers.
Clinical guidelines
Canadian neuromuscular clinicians and scientists have contributed to the development of practice guidelines and other informational products for patients and families for several NMDs such as Duchenne muscular dystrophy, spinal muscular atrophy, and myotonic dystrophy through local, national, and international initiatives such as the American Academy of Neurology and European recommendations. These guidelines are important tools to help guide clinical practice and shared decision-making and thereby improve outcomes for Canadians living with NMDs. However, several challenges remain, including a lack of comprehensive clinical practice guidelines that address the role of each member of the multidisciplinary team (even for the most common NMDs) and lack of awareness of available knowledge translation (KT) products by clinic teams, allied health professionals, patients, and their families. A better coordinated effort to develop, disseminate, implement, and monitor uptake of these KT products across Canadian NMD centres is required. For improved implementation of KT products, NMD4C will work with MDC’s patient experts and local champions in every NMD clinic (physician or allied health) according to a “community of practice” model. In addition, KT products will be disseminated to patients and families using an interactive NMD waiting room model through a demonstration project. NMD4C will disseminate existing clinical guidelines and clinician summaries to Canadian NMD clinics in English and French, make these available on the MDC website, and adapt these into patient-friendly material as demonstration projects when patient summaries are not available. Moving beyond medical care, we will develop clinical care guidelines (as a demonstration project) for health professionals for a prevalent NMD. We will consider youth engagement and education and skill supports and resources for all stakeholders and ensure sustainability with updating of guidelines and incorporating data collection to support evaluation of interventions. We will monitor the uptake and implementation of care guidelines using the Canadian Neuromuscular Disease Registry and provide this information back to professionals and patients as a quality measure.
Patient registries
Patient registries collect information about individuals who are affected by a particular condition and are a particularly important research and networking tool for rare diseases. The data collected may be used for a range of purposes, from research into specific features of the disease to clinical trial feasibility planning and recruitment. Patients who join registries can be contacted with information relevant to their condition and notified when they may be eligible for research studies and clinical trials.
In Canada, the Canadian Neuromuscular Disease Registry (CNDR) and its network of site investigators and research coordinators has become an ideal model for rare NMD registries globally. The registry has recruited 4,000 patients with various NMDs since its launch in 2010. It has facilitated 35 trials and 75 additional data inquiries and research projects. Through the resources of NMD4C, FAIR data principles (Findable, Accessible, Interoperable, Reusable) will be incorporated into CNDR functions in order to make the data more amenable to research queries. The registry will be further developed by updating existing disease modules to ensure they capture the information useful for the diseases in question and by adding new disease modules for congenital myasthenic syndrome and congenital myopathies. The registry will continue to support academic and industry-led research including quality-of-life, burden of illness and preference studies. Working with MDC, we will determine the feasibility of developing a patient portal that allows patients to self-report their data.
Biobanking
Biobanks are organized collections of biomaterial samples available for research. In rare diseases like neuromuscular disease, the number of available biosamples is often very limited, which hinders research into disease pathogenesis and mechanisms and therapy development. Making rare disease blood, DNA, urine, and tissue samples accessible for reuse is thus particularly important, as each sample is of great value.
While several Canadian institutions maintain biobanks collecting samples of NMD patients among other pathologies, Canada still lacks a coordinated effort to systematically collect, process, store, and provide NMD samples for research. Canadian NMD patients, who are typically highly willing to donate samples for research into their condition, often don’t have the opportunity to do so because of the lack of infrastructure, information, and training. NMD4C will create a virtual Canadian NMD biobank, with a central catalogue linked to international initiatives such as EuroBioBank.
To support easy access to samples by the researchers who need them, the network will develop SOPs, ethics guidance and data linkage tools according to the FAIR principles, in particular linking to phenotypic data in the CNDR and making use of standardized ontologies such as the Human Phenotype Ontology. Canadian NMD researchers will thus have improved access to high-quality biomaterials from Canadian NMD patients for translation and back-translation.
Clinical trial coordination resources
Currently, NMD trial sites are approached by sponsors (pharmaceutical companies and their contract research organizations) individually, in an uncoordinated fashion. This leads to highly repetitive work for the investigators and their staff, as the same information is requested repeatedly, in different formats and by different parties. This method is inefficient and creates inconsistent access for patients, as some sites may become over-committed while other sites have under-used capacity. NMD4C will set up an information exchange network for all Canadian sites, and will rapidly release information to patients where permitted. Information will include clinical trial opportunities, ethics protocols, budgets and other trial material. Further, NMD4C will coordinate with sponsors directly, and use the existing CNDR platform to reduce inconsistencies and increase trial capacity.
Get involved by applying to become a member of NMD4C!
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