Research on rare diseases
What we do for research
Research on rare diseases is essential to improve the quality of life of those who are affected and their families. There is now more interest by Canadian researchers and governments to advance knowledge about rare diseases and to develop treatments. Note that for many rare diseases, research is done in other countries or through international collaboration.
What we do:
- Inform people affected by a rare disease, parents of affected children or other caregivers about research on their rare disease.
- Inform patients/caregivers about opportunities to participate in research projects and clinical trials
- Inform patients/caregivers about surveys or patient registries conducted by patient organizations.
- Help researchers recruit participants for their research projects and clinical trials.
- Inform healthcare professionals about ongoing research projects and clinical trials.
- Contact researchers for certain specific diseases if associations or patients/caregivers want to advance research on their disease.
You want to know all about research on your rare disease?
Contact us. We will search various sources of information and share with you the research being done by researchers in Canada and elsewhere. We can also answer any questions you may have to help you better understand the research projects and clinical trials.
Participate in research on your rare disease today
Register yourself, your child or a loved one in a REGISTRY
A disease or patient registry is a collection of data on patients with a specific diagnosis. The data can consist of symptoms, medical history, medications, genetic information, etc. Some registries are hospital based and doctors recruit patients to take part in them. Others are patient-driven (managed by patient organizations). You can register yourself or your child in these registries. This is a way for you to help research. The data helps to better understand the disease and design research projects and clinical trials for developing new therapies.
There are registries for specific rare diseases, for all rare diseases (a registry you can join regardless of your disease), and even for undiagnosed rare diseases.
See below a “Registry of registries” for rare diseases put together by the Regroupement québécois des maladies orphelines (RQMO). These are registries in which patients or caregivers can register themselves or request to be registered.
If you need information or help about these registries or can’t find one for your condition, contact us.
SIGN UP FOR RESEARCH!
In 2024, Canada’s Drug Agency made an inventory of rare-disease based registries that are Canadian or internationally based registries which include Canadian patients. These are led either by healthcare/research institutions or patient organizations.
Canadian organizations dedicated to rare disease research
- Canadian Rare Disease Network
- Canadian Institutes of Health Research (CIHR) Rare Disease Research Initiative
- RareKids-CAN
- RARE.Qc
- Care4Rare
- Silent Genomes Project (genomics for Indigenous populations)
For information on other initiatives in Canada see our page “Rare diseases in Canada”
Learn about ongoing clinical trials
- Clinical trials worldwide (including Canada): ClinicalTrials.gov
- Register for a clinical trial in Canada: VIPeR
- Orphanet: research projects and clinical trials
- Search for clinical trials in Canada
- Public clinical trials registry – Clinical Research Quebec (you can register)
- Clinical Trials in the European Union – EMA (euclinicaltrials.eu)
- International Clinical Trials Registry Platform
Learn about patient engagement in research
- Canadian Institutes of Health Research – Institute of Genetics: Patient partnership
- Patient and Community Engagement Research (PaCER) – University of Calgary:
training patient and community members to bring patient-informed health research evidence into health care planning, practice and policy.
International organizations
- International Rare Diseases Research Consortium (IRDiRC)
- Eurordis and research
- RareEdu program by the National Organization for Rare Disorders (USA)
- EURORDIS offers in-person training for patient advocates every year in June. They also offer free on-line training. See here: Open Academy School on Medicines Research & Development.
- Also see these courses offered in several languages, including French: https://openacademy.eurordis.org/all-courses/