Rare Disease Registries Inventory

Methods

Identification of rare disease registries

The inventory includes rare disease registries (RDRs) in Canada and international RDRs that include participants living in Canada. RDRs were identified through several approaches, including a) a grey literature in collaboration with Case Market Access Consulting Inc. and COMPASS Medical Affairs Consulting Inc., b) consultations with members of the rare disease community, and c) through our Spring 2024 open call funding opportunity. Additional RDR were also identified in a comprehensive search of disease registries in published and grey literature. For additional information, please refer to An Inventory of Rare Disease Registries in the Canadian Landscape.

Survey of registry holders

To validate and supplement the information gathered in the search, we created an online survey for registry holders to complete. The survey was contracted and conducted through Medlior Health Outcomes Research Ltd from March 20, 2024 to June 10, 2024. CDA-AMC is planning to re-launch the survey in 2025. Updates will be posted on this webpage as they become available.

Creation of inventory

Information in the inventory is compiled from both publicly available information and from the survey of registry holders. Publicly available information was populated up to January 26, 2024 from RDR website(s) and from publication(s) about the RDR. The survey of registry holders validated information gathered from publicly available information and captured supplemental information. RDRs that capture multiple diseases were able to enter specific information for up to 10 disease/disease areas at this stage. Information may be coded as “not reported” if information was not reported or available because of reliance on publicly available information or partial completion of the survey for registry holders. If the registry holder did not complete information, literature and/or public search information was inputted if available. As information is sourced from public searches and directly from registry holders, the level of detail, availability of information, and timeliness of data varies across the registries. Please note that information may require further validation from registry holders.

As information is sourced from public searches and directly from registry holders, the level of detail, availability of information, and timeliness of data varies across the registries. Please note that information may require further validation from registry holders.

Inclusion and Exclusion Criteria

Category Inclusion criteria Exclusion criteria
Geographic coverage
  • Either of the following:
    • registry is led by an organization or institution in Canada
    • registry captures data from at least 1 province or territory.
  • International RDRs where information about the number of patients in Canada and/or number of sites in Canada was not identified.
Active status
  • Participant enrolment into the registry is ongoing, assessed using publicly available information (e.g., website, clinical trial registration, or publication).
  • Patients can continue to self-register or be included with a referral from a health care provider.
  • Research studies (e.g., cohort studies) that are no longer enrolling new patients
  • Registries that were operational for time-limited periods but were no longer running as of January 2, 2024.
Rare disease or condition
  • Registries that did not capture people with a rare disease.
Registry type
  • Registry collects clinical, demographic, social, or other observational data related to a specific disease or condition.
  • Databases that collect participant or caregiver contact information, but do not collect other clinical or patient-reported data.
  • Databases that collect information about specific treatments (e.g., medications, dialysis) or events (e.g., hospitalizations) but are not related to a specific disease.
  • Databases of procedures (e.g., organ replacement, implants) or health technologies not related to a specific disease.
  • Biobanks or databases that hold genomic information without associated demographic or clinical information related to a specific disease.
  • Databases related to immunization, occupational exposures, accidents, births, deaths, or similar records not related to a specific disease.

NORD = National Organization for Rare Disorders