Drugs for Rare Diseases

Rare Disease-Based Registries

Overview of Rare Disease–Based Registries

Disease registries are centralized repositories, which collect and retain standardized information about a group of patients who share a condition. Researchers and health care professionals can use the “real-world data” from these registries for many purposes. For example, it can help inform our understanding of the natural history of a disease, as well as the development and evaluation of treatments. 

Because rare diseases affect a smaller patient population, the scientific literature for rare diseases may be limited. This means data in rare disease-based registries could play an important role in addressing known challenges in rare disease research and decision-making.



CADTH is undertaking a series of activities, which will help lay the foundation for improved generation and access to real-world data from rare disease-based registries. A key aim of this work is to help generate fit-for-purpose decision-grade real-world evidence to better address regulatory, health technology assessment (HTA), and payer evidence gaps throughout the drug life cycle. We are taking several steps to achieve this:

  1. Establish an Inventory of Rare Disease Registries in Canada
    • Evaluate the quality and comprehensiveness of data within these registries to ensure it meets high standards
    • Collaborate with registry owners to improve data quality and completeness, making registries suitable for regulatory and HTA evaluations and able to support the life cycle management of drugs
  2. Establish Registry Standards and Guidelines
    • Establish data standards and guidelines for rare disease registries
    • These standards will ensure that the data in the registries can effectively serve regulatory, HTA, and life cycle management purposes
  3. Testing Existing Registries for HTA Readiness
    • Test the readiness and capabilities of existing rare disease registries in the context of HTAs
    • This testing will help identify any barriers or limitations in data readiness and comprehensiveness, and the ability to report on relevant outcomes

CADTH’s goal is to ensure data collected on people in Canada diagnosed with rare diseases can be fully used for assessing treatments and making evidence-informed decisions.

Advisory Committee on Rare Disease–Based Registries

CADTH’s work on rare disease-based registries will actively involve registry owners, administrative data holders, and health system stakeholders. CADTH will ensure meaningful engagement and consultation with multiple stakeholders at critical junctures. Furthermore, CADTH will establish an advisory committee to guide all activities related to our work on rare disease-based registries. This committee will play a critical role in overseeing the priorities of rare disease registry improvements and incorporation into HTA activities. 

CADTH will regularly update the committee and may complement these activities by seeking input from our established expert and advisory committees, as needed.