The Canadian Institutes of Health Research (CIHR) has awarded multiple grants under its Rare Disease Research Initiative. CRDN congratulates the two recipients of the CIHR’s Improving Health and Administrative Data and Monitoring for Rare Diseases Team Grant:
With thousands of known rare diseases (RD), Canada needs consistent tracking and monitoring of RDs data. By determining the prevalence, direct costs, and burden of RD in the Canadian healthcare system, these teams will pave the way for better healthcare outcomes and support for those affected by RDs in Canada. Their efforts will also facilitate better data sharing and foster collaborations between hospitals and researchers, ultimately leading to improved understanding of RD in Canada. Each team will be awarded $1.6 million over four years and more details about their projects can be found below.
CRDN is thrilled to see many of our members leading these important projects. Collaborative, transdisciplinary efforts like these highlight the strength and unity of Canada’s RD research community. We are excited to witness the impact this work will have and look forward to supporting all grant teams as they strive to improve how we identify and track RD in Canada.
More details about the respective projects can be found below:
Rare Disease Administrative Data Research (RADAR) Team: putting the health system impact of rare diseases on the radar
This important project, led by Dr. Deborah Marshall (University of Calgary) and involving a multi-disciplinary team of researchers, clinicians, and patient partners will address gaps in identifying RD patients within Canada’s health data systems. Currently, the ICD-10 coding system used in Canada only covers a small fraction of known RDs, making it difficult to reliably identify these patients in administrative databases. This lack of comprehensive data means that the prevalence of RDs in Canada and their impact on the healthcare system are not well understood.
Dr. Marshall and her team aim to tackle this issue by:
- Assessing the effectiveness of using current ICD-10-CA codes to identify RD in administrative databases based on existing patient cohorts.
- Describing the lifetime health system utilization and cost patterns for patients with known RDs compared to age and sex-matched controls.
- Mapping ORPHA codes to ICD-10-CA codes to identify a broader cohort of RD patients and examining their prevalence and impact on the health systemin three Canadian provinces.
- Exploring patient experiences and the legal and policy challenges related to RD registries, including the benefits of peer-to-peer contact through these registries.
This work is crucial for informing resource allocation and planning, ultimately supporting health systems and addressing the unique needs of the RD patient population.
Real-World Evidence for Canadian Neuromuscular Disease: Establishing a Framework for National Integration of Patient Reported Outcomes, Clinical Registry Data, Healthcare Utilization and Healthcare Associated Costs
This project, led by Dr. Reshma Amin (SickKids), Dr. Victoria Hodgkinson (Neuromuscular Disease Network for Canada), Dr. Hanns Lochmüller (Children’s Hospital of Eastern Ontario), Dr. Eyal Cohen (SickKids), Dr. Gord Jewett (University of Calgary) and Dr. Homira Osman (Neuromuscular Disease Network for Canada) is embarking on a critical study to understand the burden of neuromuscular diseases (NMD) in Canada’s healthcare system. This project aims to:
- Determine the prevalence, healthcare utilization, direct cost and health inequities associated with NMDs.
- Establish a versatile platform for generating real-world evidence (RWE)that can serve as a model for other RDs.
The team will link patient level registry data, health administrative data, and patient reported outcomes in the pursuit of RWE generation to understand the disease burden faced by Canadians with NMDs and their families, while also highlighting potential inequities in access to care.