Canada’s Drug Agency releases rare disease registries inventory to improve real-world evidence generation

Canada’s Drug Agency has published a national inventory of 148 rare disease registries to enable stakeholders to assess their relevance in generating decision-grade real-world evidence.

Canada’s Drug Agency (formerly CADTH) has published a national inventory of rare disease registries (RDRs), marking an important step in improving access to real-world data (RWD) for rare diseases. The inventory includes the details of 148 RDRs, with 66 based in Canada and 82 international registries involving Canadian participants. This centralized repository aims to support regulatory and reimbursement decision-making for rare disease treatments by collecting data that can generate RWE.

RWE plays a growing role in healthcare decision-making, particularly for rare diseases where conducting clinical trials can be difficult due to small patient populations. Canada’s Drug Agency highlights that:

“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.”

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Key findings from the inventory

The development of the inventory involved a literature search and consultations members of the rare disease research community, followed by a survey of registry holders to validate and supplement the data collected. Selected key findings include:

• Registry composition: The inventory comprises 148 registries, with 66 based in Canada and 82 international registries that include Canadian participants. Notably, 21% of Canadian registries and 11% of international registries focus on rare cancers.
• Data sources: The primary data sources for Canadian RDRs are electronic health records (68%), clinician-reported data (68%), and medical chart abstraction (60%). International registries rely more heavily on patient surveys (79%) and caregiver surveys (61%), in addition to clinician-reported data (54%). The lower use of patient and caregiver surveys in Canada may limit the completeness and richness of data.
• Data collection: The majority of both Canadian and international RDRs collect clinical, laboratory, diagnostic, and health outcomes data. However, only 15% of Canadian RDRs collect caregiver data, compared to 57% of international registries, potentially leading to gaps in understanding the full scope of patient care.

Additionally, the methods used to identify patients for registry participation vary. In Canada, 73% of registries use referrals from healthcare providers, with 33% relying on electronic medical records and 28% on patient organizations. International registries more frequently use self-registration (79%) and referrals from patient organizations (79%).

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The importance of rare disease registries

Rare disease registries are critical for collecting data on conditions that affect small populations. Patients with rare diseases often have limited or no treatment options, and clinical trials can be difficult to conduct due to the small number of eligible participants. As a result, there can be delays in accessing emerging therapies and ongoing clinical uncertainty. Registries help address these challenges by capturing RWD, which can complement traditional clinical trial data to inform healthcare decisions.

Canada’s Drug Agency developed the inventory to capture registries that collect data with the potential to generate RWE on key aspects such as disease progression, treatment effectiveness, and long-term outcomes. This information is essential for both regulatory and reimbursement decision-making in Canada. Canada’s Drug Agency stated that the inventory, “will help guide our future work to assess the quality and suitability of registries to help answer decision-making questions,” ensuring that the data collected can effectively support healthcare decisions.

The national inventory of RDRs is part of Canada’s Drug Agency’s broader effort to improve the landscape of rare disease registries in Canada. It will be periodically updated, with potential future expansions to meet evolving needs. The inventory is intended to guide future initiatives that assess the quality and suitability of RDRs for generating RWE. This initiative aligns with the Government of Canada’s National Strategy for Drugs for Rare Diseases, contributing to improved access to therapies for Canadians with rare diseases.