Long-term health
Adult participation can help researchers better understand health outcomes and changes that may occur across a lifetime.
Research & Innovation | PKU Registry
Expanding Canada’s PKU Registry to Include Adults
New funding will support the expansion of the existing pediatric CanPKU+ and INFORM RARE PKU Registry to include adults aged 18 and older, helping build a fuller understanding of PKU across the lifespan.
Building a fuller picture of PKU across the lifespan
Canadian PKU and Allied Disorders Inc. (CanPKU+) is pleased to announce that funding has been secured to expand the existing pediatric CanPKU+ and INFORM RARE PKU Registry to include adults aged 18 and older.
The funding was awarded through Canada’s Drug Agency’s 2026–2027 Rare Disease Registry Funding Opportunity and will support the next phase of registry development.
This expansion will help strengthen understanding of how PKU affects people throughout adulthood, including their health, treatment experiences, quality of life, priorities and changing support needs.
About the existing pediatric PKU Registry
The pediatric PKU Registry was established through CanPKU+, INFORM RARE and research partners to gather consistent, high-quality information about the experiences and health outcomes of children and youth living with PKU in Canada.
Registry information can help researchers and community partners better understand the natural history of PKU, treatment experiences, healthcare use, quality of life and areas of unmet need.
Unlike a single research study focused on one specific question, a registry can support multiple approved research projects over time. This helps create a stronger and more complete evidence base for the PKU community.
Extending participation to adults aged 18 and older
The next phase of the registry will create a pathway for adults living with PKU to contribute their experiences and health information.
The goal is to build a registry that reflects PKU across different stages of life rather than limiting the available evidence to childhood and adolescence.
Adults with PKU bring essential knowledge about long-term treatment, changing healthcare needs, education, employment, family life, mental health, access to specialized care and the day-to-day realities of managing PKU over many years.
Why adult PKU data matters
Important advances have been made in understanding and treating PKU during childhood. However, significant evidence gaps remain regarding the long-term experiences and needs of adults.
Treatment experiences
Registry data can help describe treatment patterns, access, preferences, challenges and the reasons adults may change or discontinue aspects of care.
Quality of life
Adults can contribute evidence about mental health, social participation, relationships, employment, education and daily management.
Future research
A stronger adult evidence base can help inform research priorities, clinical trials, health policy and future treatment evaluations.
Better adult data can also support advocacy by helping decision-makers understand that PKU is a lifelong condition with needs that continue well beyond pediatric care.
Working in partnership
This work builds on the established collaboration between CanPKU+, INFORM RARE, CHEO Research Institute, clinicians, researchers, registry specialists and people with lived experience.
Patient and caregiver involvement remains essential to ensuring that the registry collects information that is meaningful to the community and that future research reflects the priorities of people living with PKU.
CanPKU+ is proud to help bring the community perspective into the continued development and growth of Canada’s PKU Registry.
What happens next?
The funded project will support the planning and development required to responsibly extend the registry to adults, including appropriate governance, ethics, consent, privacy, data collection and research processes.
Additional information will be shared with the community as the expansion progresses, including details about eligibility, enrollment and how adults with PKU may participate.
Adults interested in the registry do not need to take any action at this time. CanPKU+ will share participation information when the adult expansion is ready to open.
Acknowledgement
This adult registry expansion is supported through Canada’s Drug Agency’s 2026–2027 Rare Disease Registry Funding Opportunity.
CanPKU+ gratefully acknowledges INFORM RARE, CHEO Research Institute, participating researchers and clinicians, patient partners and community members whose work has helped establish and advance Canada’s PKU Registry.
