Canada’s Drug Agency Publishes New Guidance for Rare Disease Registries in Canada

On Rare Disease Day — a global event dedicated to raising awareness for the millions of people living with rare diseases — Canada’s Drug Agency has published new pan-Canadian guidance on best practices and standards for rare disease registries (RDRs). The guidance, aligned with international recommendations, supports RDR holders to enhance the transparency, content, and quality of their data, and strengthen their capacity to contribute to health care decision-making.  

This work was led by Dr. Jean-Eric Tarride and Dr. Alfonso lorio from the Department of Health Research Methods, Evidence, and Impact, McMaster University, who together with their team, designed and executed the development of this guidance in collaboration with Canada’s Drug Agency.

Overview of the Guidance  

This guidance establishes recommended best practices and standards to support enhancements to the architecture and quality of RDRs in Canada. It can also support regulatory and HTA bodies in Canada to understand the potential for RDRs to serve as real-world data sources that can inform evidence needs. Notably, the guidance aligns with international recommendations and is deemed important and feasible to implement in Canada.  

The guidance is categorized into 3 main domains:

• governance best practices and standards related to formalized processes, structures, and systems to guide high-level registry decision-making, strategic planning, and oversight  
• data best practices and standards to ensure RDRs can produce and maintain high-quality data  
• information technology infrastructure best practices and standards to ensure patient and clinical data can be appropriately collected, used, and securely stored.  

While this guidance provides recommendations to support the enhancement of registry quality, meeting all best practices and standards does not guarantee that a registry is suitable to inform decision-making. Moreover, it is not mandatory for RDRs to meet all 52 elements to be considered suitable for informing specific decision-making needs. The suitability of a registry depends on multiple factors, including its relevance, timeliness, and alignment with specific evidence needs.  

Methods to Develop the Guidance  

Development of the guidance involved an iterative 3-step process beginning with a scoping review of previously published international guidance documents. Based on the results of the scoping review, a list of potential best practices and standards was included in a survey for voting and commenting by a 23-member expert panel of RDR representatives in Canada, patient groups, data holders, HTA agencies, industry, and academia. Panel members then discussed the finding; survey items that reached consensus and were deemed important and feasible to implement in Canada were included in the final list.  

Quick Facts  

• Disease registries are collections of standardized 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 and address evidentiary uncertainties to help inform a range of health care decision-making needs.  
• Canada’s Drug Agency remains committed to creating high-quality, evidence-based guidance that aligns with national and international best practices, supporting critical decision-making across Canada. Our registry guidance is part of a suite of guidance documents we have published. These include Guidelines for the Economic Evaluation of Health Technologies: Canada, which details how we conduct economic evaluations, and Guidance for Reporting Real-World Evidence, which provides core reporting standards for real-world evidence in Canada.  
• With support from the Government of Canada under the National Strategy for Drugs for Rare Diseases, Canada’s Drug Agency is leading a series of initiatives to improve the quality and use of evidence to inform and support decision-making. This guidance is part of a suite of activities to help improve evidence generation and enhance the value of real-world data from RDRs.