Drugs for Rare Diseases

Overview of Rare Disease Registries

Disease registries are databases that collect information about patients with a common disease or condition. Registries have the potential to generate high-quality, real-world data that can complement more traditional sources of evidence, such as randomized clinical trials, to help inform a range of health care decision-making needs. For example, real-world data from disease registries can help improve understanding about the natural history of a disease and assess patient outcomes beyond patients who would be eligible for a clinical trial.

Disease registries offer the potential to help reduce uncertainties within the evidence landscape of drugs for rare diseases and help improve access to promising therapies.

Key Activities and Published Reports

Canada’s Drug Agency is actively working to lay the foundation for improved generation of, and access to, real-world data from rare disease registries. Our goal is to help generate fit-for-purpose, decision-grade, real-world evidence that addresses critical evidence gaps in regulatory, health technology assessment (HTA), and payers’ decision-making needs throughout the drug life cycle.

Inventory of Rare Disease Registries

Development of an inventory: We created a comprehensive inventory of rare disease registries in Canada with the potential for generating real-world evidence to support regulatory and reimbursement decisions. We also transformed our static report into a live searchable Inventory.

Preliminary assessment of rare disease registries in Canada: Using the Registry Evaluation and Quality Standards Tool (REQueST) developed by the European Network for Health Technology Assessment (EUnetHTA).

Explore our live inventory

Guidance and Best Practices for Registries

Rare Disease Registry Guidance: We developed a set of best practices and standards to enhance the quality of rare disease registries in Canada to bolster their capacity to inform regulatory, HTA, and life cycle management processes.

Roadmap for linking registry data with administrative health services data: With the support of our health system partners, we developed a roadmap for registry holders to navigate the process of data linkage.

Scoping review: We supported the development of a scoping review of recommendations and guidance on improving the quality of rare disease registries. This scoping review informed our rare disease registry guidance document.

Testing HTA Readiness of Existing Registries

HTA Readiness Testing: We will test the readiness and capabilities of existing rare disease registries in the context of HTAs. This will help identify potential barriers or limitations in data readiness, comprehensiveness, and the ability to report on relevant outcomes.

Advisory Group on Rare Disease–Based Registries

Our work to support and enhance the rare disease registry landscape in Canada is built on engaging, consulting, and learning from experts across health systems. In 2024, we formed the Rare Disease Registries Advisory Group, which consists of external experts who provide strategic advice, share insights, and offer guidance to help inform our portfolio of work. This time-limited advisory group includes people with lived experience, clinicians, researchers, industry experts, and experts in rare disease registries and their development. Members of this advisory group share advice and input, but do not provide formal recommendations on our work. We also consult with our other established expert committees.

The Rare Disease Registries Advisory Group is not seeking further nominations at this time.

The members of the Rare Disease Registries Advisory Group are:

Beth K Potter, PhD

Ottawa, Ontario
Professor of Epidemiology and Public Health, University of Ottawa
Affiliate Investigator, CHEO Research Institute

Beth Potter leads INFORM RARE, a multidisciplinary patient-partnered research network dedicated to evaluating new and existing therapies for children with rare diseases, particularly mucopolysaccharidosis (MPS), phenylketonuria (PKU), and spinal muscular atrophy. She co-leads INFORM RARE’s partnership with patient organizations, including the Canadian MPS Registry and Canadian PKU Registry. She also leads the Registry Sub-Platform for RareKids-CAN.

Carlos Martín Saborido, MSc, PhD

Madrid, Spain
Director, HTA Agency, Instituto de Salud Carlos III (ISCIII)
Advisor, Data Analysis and Real-World Interrogation Network (DARWIN EU)

Carlos Martín Saborido is a health economist by training, actively involved in shaping pharmaceutical policy and advising the European landscape of real-world evidence and HTA. He has been a key advisor to Spain’s National Health System in implementing Valtermed — a registry database evaluating new therapies, primarily drugs for rare diseases.

Ian Stedman, MA, LLB, PhD

Vaughan, Ontario
Associate Professor, School of Public Policy and Administration,
York University

Ian Stedman is a patient advocate who lives with a rare genetic disorder and serves as Chair of the Board of the Canadian Autoinflammatory Network (Réseau Auto-inflammatoire Canadien). He is also affiliated with the Canadian Registry for Rare Systemic Autoinflammatory Diseases.

Dr. Kym Boycott, MD, PhD, FRCPC

Ottawa, Ontario
Senior Scientist, CHEO Research Institute
Professor of Pediatrics, University of Ottawa

Dr. Boycott is a Tier 1 Canada Research Chair in Rare Disease Precision Health and leads the Care4Rare Canada consortium — a collaboration of clinicians and researchers from 21 academic centres that aim to improve the diagnostic journey of patients with rare diseases. She also leads the Diagnostics and Registries pillar of the Canadian Rare Disease Network.

Dr. Sandra Sirrs, MD, FRCPC

Vancouver, British Columbia
Clinical Professor, UBC Division of Endocrinology
Medical lead, Rare Diseases, BC Provincial Health Services Agency

Dr. Sirrs is a founding member of the Canadian Fabry Disease Registry and has been involved with other Fabry disease registries as well as registries for patients with Gaucher disease, Pompe disease, mucopolysaccharidoses, and Niemann-Pick disease type C.

Stephanie Cheng, MSc

Toronto, Ontario
Director, Canadian Cystic Fibrosis Registry, Cystic Fibrosis Canada

Stephanie Cheng is Director of the Canadian Cystic Fibrosis Registry at Cystic Fibrosis Canada. She has worked extensively in health services and epidemiologic research, with a focus on using population-level administrative databases and registries.

Andrew Taylor, MA

Ottawa, Ontario
Director, Policy, Research, and Data, Drugs for Rare Disease Directorate, Health Policy Branch, Health Canada

Andrew Taylor leads various aspects related to the implementation of Health Canada’s National Strategy for Drugs for Rare Diseases, including further policy development and engagement work, activities to improve the collection and use of evidence, and actions to advance rare disease research. He is an observer on the advisory group.

The advisory group is not seeking further nominations at this time.