About The Canadian PKU Registry
What is a patient registry?
A patient registry is a database that stores information about a group of patients who share the same medical condition. Registries collect information from patients over time.
What is the purpose of patient registries?
The goal of patient registries is to generate evidence to improve health care and outcomes for people diagnosed with a specific condition. To achieve this goal, patient registries can be used to:
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Better understand the disease and how it changes over time for different patients.
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Evaluate interventions or medical therapies, including the diet.
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Contact patients about research opportunities related to their disease.
Underpinning Values of The Canadian PKU Registry
The Canadian PKU Registry is part of the Canadian Metabolic Patient Registries. Our underpinning values are as follows:
Who was involved in the development of The Canadian PKU Registry?
The following organizations contributed to the development of the patient registry:
Canadian PKU & Allied Disorders Inc. (CanPKU+)
Patient Organization
CanPKU+ is a non-profit association dedicated to providing accurate news, information, and support to families and professionals dealing with phenylketonuria and similar, rare, inherited metabolic disorders.
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INFORM RARE
Research Network
INFORM RARE is a Canadian research network comprised of patients, family members, representatives from patient organizations, health care providers, policymakers, methodologists, and ethicists. The goal of INFORM RARE is to evaluate new and existing therapies and make recommendations to improve care for children with rare genetic diseases.
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Children’s Hospital of Eastern Ontario Research Institute (CHEO RI)
Academic Institution
The CHEO RI is the academic institution responsible for the research oversight of the Registry. This involves data stewardship, research ethics compliance, and legal obligations. Registry staff are also based at the CHEO RI.
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National Organization for Rare Disorders (NORD®)
Registry Platform
The National Organization for Rare Disorders (NORD®) is the first and leading national patient organization representing all individuals and families affected by rare diseases in the United States. NORD is dedicated to improving the health and well-being of people with rare diseases by driving advances in care, research, and policy. To achieve this goal, NORD created its IAMRARE® natural history patient registry program, an easy-to-use system that allows patients to inform and shape medical research and translational science for rare diseases, ultimately advancing treatment development.
Who is responsible for the decision-making of The Canadian PKU Registry?
Decision-making regarding The Canadian PKU Registry will be led by the Canadian Metabolic Patient Registries Steering Committee. The purpose of the committee is to provide overall scientific and patient-oriented leadership and direction for the patient registry. The committee is composed of patients, caregivers, representatives from the patient organization, health care providers, and research methodologists and ethicists. 
Thank you to our funders and partners supporting the Canadian Metabolic Patient Registries!
