Canada launches national inventory of rare disease registries to advance real-world evidence

Canada’s first interactive inventory of rare disease registries (RDRs) is now available, offering a centralized, searchable, and regularly updated resource to support regulatory, reimbursement, and health technology assessment (HTA) decisions using real-world data (RWD).

Developed by Canada’s Drug Agency (CDA), the inventory includes both Canadian RDRs and international registries that involve Canadian patients. It forms part of a broader initiative to improve real-world evidence (RWE) generation under the Government of Canada’s National Strategy for Drugs for Rare Diseases.

The inventory builds on the August 2024 report, An Inventory of Rare Disease Registries in the Canadian Landscape. It has since evolved into, “a dynamic, centralized repository of RDRs with the potential for generating RWE to support regulatory and reimbursement decisions.” Users can explore the registry landscape by rare disease area, type of data collected, and provincial or territorial coverage. Registries were identified through grey and published literature searches, consultations with the rare disease community, and CDA’s Spring 2024 open call for submissions. To validate and supplement this information, CDA conducted a national survey of registry holders between March and June 2024, with a follow-up planned for 2025.

CDA stated, “We’re excited to share a live and searchable inventory of RDRs in Canada, as well as international registries that include patients in Canada.” The inventory includes 148 registries in total, with 66 based in Canada and 82 international registries that report including Canadian patients.

The CDA added,

 “This work is part of a broader effort led by Canada’s Drug Agency to lay the foundation for improved generation of, and access to, real-world data from RDRs, in support of the Government of Canada’s National Strategy for Drugs for Rare Diseases.”

Among Canadian registries, 85% reported patient counts ranging from 17 to 55,490, and 21% focus on rare cancers. Ontario (71%), Quebec (55%), and Alberta (55%) are the most represented provinces, while only 15% of registries report data collection across all provinces and territories.

Examples include the Pediatric Oncology Group of Ontario Networked Information System (POGONIS), which captures data on 19,900 pediatric cancer patients in Ontario. The Canadian Cerebral Palsy Registry includes 2700 patients across five provinces. Enroll-HD, an international registry for Huntington disease, includes Canadian participants from British Columbia, Alberta, Ontario, Quebec, and Nova Scotia.

Data collection methods vary. In Canada, 68% of registries use electronic health records (EHRs) and clinician-reported data, followed by medical chart abstraction (60%). International registries more often rely on patient surveys (79%) and caregiver surveys (61%). Most Canadian registries collect clinical data (95%), laboratory and diagnostic data (85%), and health outcomes data (83%). Patient-generated data (55%) and caregiver data (15%) are collected less frequently.

Regarding patient identification, 73% of Canadian registries rely on referrals from healthcare providers. A third use EHRs to help identify patients. According to the 2024 report,

“Most RDRs in Canada source data from electronic health records, clinician-reported data, and medical charts. Fewer implement patient and caregiver surveys.”

The inventory is intended to support future efforts to evaluate the ability of registries to generate RWE for decision-making. As the report states,

“This foundational work will support future initiatives to assess the suitability of registries for generating decision-grade RWE.”

The live inventory is publicly accessible and will be updated regularly, “with the potential to expand as needs evolve—supporting efforts to better assess the suitability of RDRs for decision-grade evidence generation.”