The creation of a Canadian registry for familial hypercholesterolemia will allow for the expedited identification and initiation of personalized treatment of subjects with FH using the process of cascade screening. This strategy has improved outcomes for subjects with FH in countries in which such registries have been established, including The Netherlands, United Kingdom, and Spain. The FH registry will also create a network of academic clinics across Canada to promote collaborative clinical research, basic research into the molecular mechanisms of lipoprotein disorders, and will crystallize an infrastructure for research on health outcomes, and economics, in the broader context of gender, ethical, ethnic, economic, legal and societal aspects of FH.
Our major objective is to identify patients with FH and rare disorders of lipoprotein metabolism, in order to promote access to care and optimize treatment to prevent cardiovascular disease and ultimately improve clinical outcomes.
Our specific objectives are:
- Creation of the Canadian Familial Hypercholesterolemia Registry and the closely related Systems and Molecular Approach to Severe Hyperlipidemias (SMASH) initiative;
- Fostering basic research in genetic dyslipidemia, including discovery of novel genes, novel pathways, and novel targets;
- Leveraging the Registry to drive novel clinical research, including optimizing diagnosis and care in FH patients; and delivery of translational and personalized medicine;
- Using the Registry to promote health services research, including Health Outcomes and Health Economics (for instance, it will permit the evaluation of health services required across the country and the equitable distribution of services where needed, and the examination of the burden of health caused by FH, the requirements for specialized centers (lipid clinics vs. general practitioners) and the need for local expertise and the costs associated with FH in each province);
- Deriving Societal and Education benefits from the Registry, including Genomics, Ethical, Economic, Environmental, Legal and Social (GE3LS) aspects; Knowledge Translation, education, health promotion and public health policy advice.
What makes this project unique?
- This project aims to be a “projet rassembleur” (unifying project), where clinicians and scientists work to optimize the care of patients with FH and related lipoprotein orphan diseases;
- The SMASH initiative is unique and will allow patients with rare diseases to have access to expert care and personalized medicine;
- The FH Canada registry will lead to harmonized treatment recommendations for FH patients across the country;
- A precise diagnosis will allow personalized medicine and access to new therapeutic modalities and enable early diagnosis and primary prevention treatment by cascade screening of affected relatives;
- This, in turn, will lead to a reduction in CVD and substantial cost savings for Canada;
- It has a strong commitment to knowledge translation to ensure dissemination of new clinical practice guidelines and information on FH for physicians and patients alike.