Canada’s Drug Agency releases new rare disease registry guidance to strengthen real-world evidence generation

New guidance from Canada’s Drug Agency (CDA-AMC) sets out recommendations for rare disease registries (RDRs) to enhance the quality, transparency, and governance of real-world evidence (RWE), aiming to support better health care decision-making and aligning with international best practices.

Coinciding with the recent Rare Disease Day 2025, the CDA-AMC has released a new guidance called “Best Practices and Standards to Enhance the Quality of Rare Disease Registries”, a new pan-Canadian guidance on best practices and standards for RDRs. RDRs are collections of standardized information about patients with a common disease or condition and have the potential to generate high-quality RWD that supplement gaps and address uncertainties in traditional evidence sources.

The new guidance aims to improve data transparency, content, and quality, while reinforcing the role of RDRs in health care decision-making. Aligned with international recommendations, including those from the EMA and FDA, the guidance is designed to support registry holders, regulatory bodies, and health technology assessment (HTA) agencies across Canada.

Development process

The guidance was developed through a structured three-step process:

• Scoping review – Analyzing international guidance documents to establish an initial list of best practices and standards.
• Expert panel consultation – A 23-member panel, including RDR representatives, patient groups, data holders, HTA agencies, industry stakeholders, and academics, reviewed and voted on proposed standards.
• Consensus building – Through a Delphi panel review, 52 best practices and standards were recognized as both important and feasible to implement, comprising 33 governance elements, 13 data elements, and 6 information technology infrastructure elements.

Developed in collaboration with CDA-AMC, this guidance was led by Dr. Jean-Eric Tarride and Dr. Alfonso Iorio from the Department of Health Research Methods, Evidence, and Impact at McMaster University. Their team conducted a structured development process to ensure the recommendations were both practical and aligned with global best practices.

Key components of the guidance

The scoping review of existing guidance identified 109 potential best practices and standards, categorized into three domains: governance, data, and information technology infrastructure:

1. Governance – Recommendations for formalized processes, structures, and systems to support decision-making, strategic planning, and oversight.
2. Data – Standards to ensure RDRs can generate and maintain high-quality data.
3. Information technology infrastructure – Best practices to ensure patient and clinical data are appropriately collected, utilized, and securely stored.

While the guidance provides a comprehensive framework to enhance registry quality, it acknowledges that “meeting all best practices and standards does not guarantee that a registry is suitable to inform decision-making.” Additionally, registries are not required to meet all 52 elements to be considered useful for specific decision-making needs. Suitability depends on multiple factors, including relevance, timeliness, and alignment with evidence requirements.