Understanding the Rare Disease Registries Landscape in Canada

Canada’s Drug Agency has published a national inventory of rare disease registries (RDRs) that includes both registries in Canada and international registries with participants who live in Canada.

The inventory is designed to serve as a centralized, thorough repository of registries that collect data with the potential for generating real-world evidence to support regulatory and reimbursement decisions related to drugs for rare diseases. It includes key elements about these registries, such as the rare disease or condition examined within the registry, the number of Canadian provinces and/or territories captured within the registry, data sources, and types of data. 

This inventory is a preliminary step in our ongoing work to better understand and improve the RDR landscape. The inventory will help guide future work at Canada’s Drug Agency to assess the quality and suitability of registries to help answer decision-making questions. 
 

Read the inventory 

What We Found

RDRs were identified through a literature search and consultations with members of the rare disease research community. A survey was then conducted with registry holders to validate and supplement the information collected from publicly accessible sources. Some key findings from our literature search and survey of registry holders include: 

• In total, 148 RDRs were included in the inventory, including 66 RDRs from Canada and 82 international RDRs.
• Overall, 21% of RDRs in Canada and 11% of international RDRs capture rare cancer(s).
• Most RDRs in Canada source data from electronic health records, clinician-reported data, and medical charts, while fewer use patient surveys and caregiver surveys (compared to international RDRs), which may lead to gaps in data completeness and richness.
• Most RDRs in Canada collect clinical data, laboratory and diagnostic data, health outcomes data, and treatment data, and less commonly patient-generated data and caregiver data.

For a detailed account of all findings, please refer to the full report.

This inventory will be periodically updated over time and the information captured may be expanded in the future to address the evolving needs of decision-makers.

Why Are RDRs Important?

People with rare diseases often have limited or no treatment options and conducting clinical trials in this area is inherently challenging, which can result in clinical uncertainty and further delays in accessing new and emerging therapies. There is growing recognition in Canada and globally that real-world data and real-world evidence from RDRs can play a significant role in optimizing both regulatory and reimbursement decision-making.

Disease registries are databases that collect information about patients with a common disease or condition. Registries have the potential to generate high-quality real-world data that can complement more traditional sources of evidence, such as randomized clinical trials, to help inform a range of health care decision-making needs.

Our work to develop a national inventory is part of several initiatives led by Canada’s Drug Agency to lay the foundation for improved generation of, and access to, real-world data from RDRs. This work is undertaken in support of the Government of Canada’s National Strategy for Drugs for Rare Diseases.

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