The Canadian Inherited Metabolic Diseases Research Network (CIMDRN)

CIMDRN is a pediatric multidisciplinary research network benefitting from expertise of members including health policy researchers, clinical evaluative scientists, metabolic clinicians, staff, and trainees from across Canada and beyond. CIMDRN was initially established with funding from a CIHR Emerging Team Grant (2012-2017) with the goal to generate evidence to improve outcomes and health care services for children with inherited metabolic diseases.

Learn about our initial approach and research agenda.

Research Cohort

Multi-centre networks are a key strategy in rare disease research to overcome limitations related to small patient populations. Thus, a primary emphasis of CIMDRN’s work and investment of our initial funding was to establish a large consent-based research cohort of children with rare inherited metabolic diseases receiving care across Canada. We have assembled extensive clinical and family-reported data for the cohort that have served as a resource for our past and ongoing research (see Publications).

Core Outcome Sets:

CIMDRN also developed core outcome sets for pediatric phenylketonuria and medium chain acyl coA dehydrogenase deficiency to facilitate meaningful future evidence generation and to enhance capacity to compare and synthesize findings across studies. Our final core outcomes sets for these conditions are shown below, with more information about our methods and findings here. We used a robust strategy to ensure meaningful engagement of patients and family members in the development of these core outcome sets, described here.

Studies to understand family experiences and needs, including healthcare experiences

Through CIMDRN, we conducted two qualitative studies regarding the needs of families caring for children with IMDs, within the CIMDRN cohort and with patient support organizations. We found that while families often reported having adjusted well to their child’s IMD, this had frequently required them to develop extensive proactive coping strategies in order to manage their child’s care. These studies also suggested a need to better understand the most common gaps in family-centred care for pediatric IMDs, particularly outside of the metabolic clinic. In response, we conducted a cross-sectional survey of families whose children are participating in the CIMDRN cohort (details here), which corroborated our qualitative findings related to care in settings such as the emergency department and identified that concerns about family-centred care were frequently related to perceptions of poor provider communication and lack of involvement of family members in their children’s health care provision.

CIMDRN’s studies related to family experiences with care informed the development of a program of studies funded by a CIHR project grant to investigate health care experiences from both family and provider perspectives and inform interventions to improve care. For more information, please see our page about this Family Centred Care study.

Catalyst for INFORM RARE

CIMDRN’s work has provided a foundation for the INFORM RARE network. Our experiences across CIMDRN’s research program have emphasized that in order to mitigate limitations inherent to rare disease research, when generating evidence to improve health care and outcomes, our strategy should include:

• co-designing research as a partnership among patients and families, health care providers, methodologists and policy-makers;

• establishing and maintaining multi-centre collaborations;

• harmonizing the selection and robust measurement of meaningful outcomes; and

• streamlining methods to evaluate care. 

Thus, INFORM RARE has sought to create a new patient-partnered research ecosystem in pediatric rare diseases that includes but goes beyond inherited metabolic diseases. The disease-specific registries that INFORM RARE is developing will rigorously collect the core outcome sets we established within CIMDRN as well as new core outcome sets for additional conditions. These registries will provide access to high-quality harmonized data, including streamlined prospective clinical and patient-reported data, to support both observational studies and embedded clinical trials. INFORM RARE will address research questions prioritized by patients/families, providers, and policy decision-makers who are embedded knowledge users in the network, facilitating the uptake of findings and the measurement of long-term outcomes.

CIMDRN has continued as a network and is embedded within INFORM RARE, encompassing INFORM RARE’s research program on inherited metabolic diseases.

Funding

Canadian Institutes of Health Research, Emerging Team Grant for Emerging team in rare diseases: Achieving the “triple aim” for inborn errors of metabolism, 2012-2017.

Related funding - Core Outcome Set Development:

• Canadian Institutes of Health Research, CIHR Catalyst Grant SPOR Innovative Clinical Trials for Catalyzing registry-based randomized comparative effectiveness trials for inherited metabolic diseases in children: establishing a core outcome set and data collection tools, 2017-2018.

• Ontario SPOR SUPPORT Unit, OSSU EMPOWER Award for Implementing sustainable collection of core patient-oriented health outcomes for pediatric inherited metabolic diseases – a multi-stakeholder workshop, 2019-2020.

Participating centres

• Alberta Children's Hospital

• BC Children's Hospital

• Centre hospitalier universitaire de Sherbrooke

• Children's Hospital, London Health Sciences Centre

• Children’s Hospital of Eastern Ontario

• Health Sciences Centre Winnipeg

• Hospital for Sick Children

• IWK Health Centre

• Janeway Children's Hospital

• Kingston General Hospital

• McMaster Children's Hospital

• Montreal Children's Hospital

• Stollery Children's Hospital

Publications

For a complete list of publications from INFORM RARE and related research, click here.