Enhancing Rare Disease Registries in Canada

João L. Carapinha, Ph.D.

Rare disease (RD) registries are crucial for improving healthcare outcomes in Canada. These registries provide essential data that inform healthcare decisions and policy development. With the Canadian government investing significantly in the National Strategy for Drugs for Rare Diseases, enhancing these registries is vital. This Directors Digest explores the best practices and standards necessary to improve the quality of these registries.

Understanding the Current Landscape

Rare diseases often have low prevalence, making traditional clinical trials challenging. Rare disease registries offer real-world evidence that complements these trials. As of June 2024, Canada hosts 66 rare disease registries, with 82 international registries including Canadian patients. This highlights the need for standardised practices to ensure data quality and utility.

Noteable Insights

  • Importance of Best Practices. Adhering to best practices ensures that registries produce decision-grade evidence. This includes data quality assurance and transparency.
  • Challenges and Opportunities. Registries face resource limitations, but implementing recommended practices can enhance their capacity to contribute to healthcare decision-making.
  • Role of Real-World Evidence. Real-world evidence from registries provides insights into treatment effectiveness and safety, crucial for rare diseases.

Recommendations & Guidance

Policymakers should support the development of high-quality registries through funding and resources. Health economists can use registry data to assess treatment cost-effectiveness, aiding in fair pricing and market access decisions. Improved registries can expedite market access for new therapies, ensuring timely and effective treatments for patients.

Enhancing the quality of RD registries in Canada and other countries is essential for advancing healthcare outcomes and policy development. By adopting best practices, registries can provide robust data that informs decision-making. Stakeholders are encouraged to improve registry quality, and ensure that patients with rare diseases receive the care they deserve.

Resources

Best Practices and Standards to Enhance the Quality of Rare Disease Registries in Canada | CDA-AMC. https://www.cda-amc.ca/best-practices-and-standards-enhance-quality-rare-disease-registries-canada [Accessed March 10, 2025]