The Directory includes information on rare disease clinical studies compiled from publicly available sources, including ClinicalTrials.gov, Recherche Santé Québec, institutional websites, and information provided directly by institutional research offices.

At the end of each trimester, studies are compiled, filtered according to predefined criteria, and cross-referenced against rare diseases listed in the Orphanet rare disease inventory using artificial intelligence (AI) tools. To improve searchability and consistency, study site information is harmonized (e.g., spelling is standardized and abbreviations are resolved). Study titles are translated using AI tools and may therefore not correspond exactly to the original study title.

While we strive to keep the information current and accurate, study details may change over time. Users are encouraged to consult the original study record or contact the research team directly for the most up-to-date information.

The compilation of the Directory is supported by AI tools for data extraction, structuring, disease identification, and translation.

You can search the Directory using keywords such as a disease name, gene, study title, institution, or other relevant terms. You may also use available filters found on the left hand side to narrow your results based on factors such as disease area, disease or condition, study status, study type, study site or sponsor.

Content can be translated into French or English using the language toggle on the top right and selected studies can be exported into an Excel document by clicking on button on the top right.

Rare disease research is often fragmented across and within institutions and regions, making it difficult for healthcare professionals, researchers, patients, and families to identify relevant studies.

The Directory was created to improve the visibility, accessibility, and discoverability of rare disease clinical research. By bringing information together in one place, the directory helps connect stakeholders with research opportunities, supports collaboration within the rare disease ecosystem, and promotes participation in clinical research.

The RARE.Qc Directory compiles information from publicly available databases, such as ClinicalTrials.gov, Recherche Santé Québec, institutional websites, and information provided directly by some institutional research offices. A study may not yet appear in the Directory if it has been newly registered and is not yet indexed in these databases, was not captured in the most recent data update, or was inadvertently excluded during the data processing and filtering steps.

Future versions of the directory aim to expand coverage by incorporating additional sources of information, including academic clinical research conducted across Québec.

If you believe your study should be included, please contact the RARE.Qc team with the study title, the link to the record in ClinicalTrials.gov or Recherche Santé Québec (if applicable), and any relevant details. We will review the information and assess its eligibility for inclusion.

The Directory does not provide direct contact details for the principal investigator or study coordinator responsible for each study.

When available, this information can be found in the original study record on ClinicalTrials.gov or Recherche Santé Québec, within the study description page. Where applicable, the Directory may also provide a link to the institutional website or research group responsible for the study, which users can contact directly.

Please note that RARE.Qc does not manage study recruitment and may not be able to facilitate direct contact with research teams.