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Research that grows with our community

Your experience can help shape what comes next.

Registries bring information from many individuals and families together so researchers can better understand rare metabolic disorders over time.

Whether you live with PKU, HCU, MSUD or a UCD, sharing your experience can help build a stronger picture of health, treatment, quality of life and unmet needs.

People across Canada contributing information to long-term rare disease research

Small contributions can build a much bigger picture.

Because rare disorders affect relatively small numbers of people, no single clinic or community can answer every research question. Registries help bring individual experiences together and create information that researchers can study over time.

Understand

Learn more about symptoms, treatment, quality of life and how a condition may change across the lifespan.

Identify Needs

Help researchers and clinicians recognize gaps in care, treatment burden and questions that matter to patients and families.

Build What Comes Next

Registry data can support future studies, clinical-trial design, improvements in care and development of new treatments.

Find Your Registry

Registry options are different for each community. Select your disorder below to see what is available and how participation can contribute to research.

PKU Registries

Canadian PKU Registry

A partnership with Inform Rare and CanPKU+

The Canadian PKU Registry collects information to help document the natural history of PKU in Canada and better understand the experiences and priorities of Canadian patients and caregivers.

Registry information can help support future research, clinical-trial design, long-term follow-up and the sharing of de-identified data with researchers when participants consent.

Current focus: The Canadian registry is currently available for pediatric participants.

Visit the Canadian PKU Registry How to Join

Watch: About the Canadian PKU Registry

National PKU Alliance Registry

International PKU registry

The National PKU Alliance Registry provides another way for people with PKU to contribute health information and lived experience to research.

Its goals include improving clinical care, supporting research and treatment development, and following the experiences of people with PKU across different stages of life.

Important: The Canadian PKU Registry and the NPKUA Registry are separate registries and are not linked.

Visit the NPKUA Registry

HCU Registry

Homocystinurias Data Collection Program

There is currently no Canadian-specific HCU registry, so CanPKU+ encourages people and families affected by HCU to explore the Homocystinurias Data Collection Program.

Participants complete surveys about their health and experience living with HCU. Information can help researchers understand how the condition changes over time and support future clinical research and treatment development.

Participation is completed remotely, and participants can return to update their information over time.

Visit the HCU Registry

Watch: What's Your Why?

MSUD Registry

MSUD Family Support Group Registry

A patient-driven MSUD registry

There is currently no Canadian-specific MSUD registry. The MSUD Family Support Group Registry provides a way for people affected by MSUD to share information about diagnosis, treatment, barriers to care and quality of life.

Registry data can help fill gaps in our understanding of long-term health, identify unmet needs, guide future research and provide natural-history information that may support clinical trials.

Information is collected through surveys that can be completed at your own pace, with participants invited to update their information over time.

Visit the MSUD Registry

Watch: MSUD Research Plan

Urea Cycle Disorder Registry

UCD International Patient Registry

UCDiPR

There is currently no Canadian-specific UCD registry. People affected by a urea cycle disorder, including patients and caregivers, can participate in the UCD International Patient Registry.

Participants contribute information about diagnosis, access to care, treatment and the day-to-day impact of UCDs. Information is anonymized and combined with data from other participants to create a larger research resource.

The registry is designed to help patients, families, clinicians and researchers share information, identify research priorities and support development of new studies and treatments.

Visit the UCD Registry

Your Information. Your Choice.

Participating in a registry is voluntary. Before joining, take time to understand what information will be collected, how it may be used, who may have access to it and where the information is stored.

Some registries available to Canadians are based outside Canada and information may be stored in another country. Information stored outside Canada may be subject to the laws of that country.

CanPKU+ encourages participants to review the registry's privacy information carefully and never provide unnecessary highly sensitive identifiers such as banking information or a Social Insurance Number.

Registries are one piece of the research puzzle.

Registry data can help researchers understand what happens over time, identify unmet needs and prepare for future studies. There are many other ways patients and families can participate in research too.

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