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Research & Innovation
There is more than one way to be part of research.
Whether you live with PKU, HCU, MSUD, a UCD, or support someone who does, research can help us understand conditions better, improve care and explore new possibilities.
You might join a clinical trial, complete a survey, contribute to a registry, share your family's experience, or simply learn from research others have helped make possible.
You might join a clinical trial, complete a survey, contribute to a registry, share your family's experience, or simply learn from research others have helped make possible.
Find Your Way Into Research
You do not need to know the name of a study or understand clinical-trial terminology to get started. Choose the path that makes the most sense to you.
Research Can Look Like Many Things
Participating in research does not always mean taking an experimental treatment. Different studies answer different questions and ask different things of participants.
Clinical Trials
Interventional studies may investigate new medicines, therapies, devices, dietary approaches or other ways to improve treatment and care.
Natural History & Observational Research
These studies follow people over time or examine health and development without assigning an experimental treatment.
Surveys, Interviews & Lived Experience
Research may ask about treatment burden, mental health, school, work, family life, quality of life, access to care or other parts of living with a rare disorder.
Registries & Long-Term Follow-Up
Registries collect information over time and can help researchers understand rare disorders, identify unmet needs and improve future research.
Who Can Participate?
Research opportunities may be designed for the person living with a rare disorder, for caregivers and families, or for both.
Children
Research involving children may include natural-history studies, nutrition and feeding research, growth and development studies, registries, clinical trials and quality-of-life research.
Some studies collect information directly from children, while others rely on parents or caregivers to describe symptoms, treatment, development or family experience.
Some studies collect information directly from children, while others rely on parents or caregivers to describe symptoms, treatment, development or family experience.
Youth & Teens
Youth research may explore quality of life, mental health, treatment adherence, independence, self-management, transition to adult care, social experiences and participation in treatment studies or registries.
Depending on age, location and study design, parent or caregiver consent may also be required.
Depending on age, location and study design, parent or caregiver consent may also be required.
Adults
Adult research may include clinical trials, natural-history studies, registries, pregnancy and reproductive-health research, aging, quality of life, adult care needs and surveys about day-to-day management.
Participation can range from a short online survey to a longer in-person treatment study.
Participation can range from a short online survey to a longer in-person treatment study.
Caregivers & Families
Caregivers are research participants in their own right. Studies may explore family experience, treatment access, nutrition, mental health, burden of care, transition, quality of life and everyday management.
Some studies recruit caregivers only, while others invite both the caregiver and the person living with the condition.
Some studies recruit caregivers only, while others invite both the caregiver and the person living with the condition.
Explore Research Across Our Communities
Research priorities differ between conditions, but many studies share common goals: better treatments, better understanding of long-term health, and better quality of life.
PKU
PKU research includes new treatment approaches, dietary tolerance, pregnancy and reproductive health, quality of life, neurocognitive health, treatment burden and long-term outcomes.
Recent CanPKU+ research articles include developments involving sepiapterin/Sephience, repinatrabit (JNT-517) and Palynziq pregnancy research.
Recent CanPKU+ research articles include developments involving sepiapterin/Sephience, repinatrabit (JNT-517) and Palynziq pregnancy research.
HCU
HCU research may include emerging treatments, enzyme replacement, natural-history research, screening, long-term outcomes, quality of life and the experiences of people and families living with homocystinuria.
CanPKU+ Research Articles & Updates includes coverage of the pegtibatinase research program and other developments.
CanPKU+ Research Articles & Updates includes coverage of the pegtibatinase research program and other developments.
MSUD
MSUD research includes metabolic management, supplementation, neurocognitive and adaptive function, transition to adulthood, quality of life, long-term outcomes and emerging treatment approaches.
CanPKU+ Research Articles & Updates includes research on adult outcomes and valine/isoleucine supplementation.
CanPKU+ Research Articles & Updates includes research on adult outcomes and valine/isoleucine supplementation.
Urea Cycle Disorders
UCD research includes natural-history studies, hyperammonemia, brain health, growth, cognition, quality of life, transplantation, treatment outcomes and new therapeutic approaches.
The Urea Cycle Disorders Consortium has built an important body of long-term research that continues to support new studies and publications.
The Urea Cycle Disorders Consortium has built an important body of long-term research that continues to support new studies and publications.
Registries: Research That Builds Over Time
Rare-disease registries help researchers collect information across larger groups of people and over longer periods of time.
Registry participation can strengthen our understanding of natural history, treatment outcomes, unmet needs and quality of life, and may help researchers design better studies in the future.
Explore Registries
Registry participation can strengthen our understanding of natural history, treatment outcomes, unmet needs and quality of life, and may help researchers design better studies in the future.
Pediatric Rare-Disease Research in Canada
RareKids-CAN is Canada's Pediatric Rare Disease Clinical Trials and Treatment Network. Its work brings together patients and families, clinicians, researchers and other partners to strengthen pediatric rare-disease research and improve access to innovative therapies.
RareKids-CAN also shares opportunities for youth and caregivers to contribute directly to research.
Explore RareKids-CAN Participation Opportunities
RareKids-CAN also shares opportunities for youth and caregivers to contribute directly to research.
Looking for a Current Clinical Trial?
Recruitment status, study locations, eligibility and timelines change frequently.
Rather than duplicate information that can quickly become outdated, CanPKU+ directs you to sources designed to maintain current clinical-trial information.
Official Clinical Trial Sources
Health Canada Clinical Trial Search
Search clinical trials authorized in Canada by condition, treatment, location and more.
ClinicalTrials.gov
Search clinical studies taking place in Canada and around the world.
Additional Research Discovery Tools
Discovery tools may make clinical-trial information easier to browse. Always confirm current details with the official study registry or research team.
Found a Study That Interests You?
Finding a study does not mean that you or your family member will automatically qualify. Eligibility can depend on diagnosis, age, treatment history, laboratory results, location and many other factors.
Read the official study information, contact the study team with questions and consider discussing participation with your metabolic health-care team.
Read the official study information, contact the study team with questions and consider discussing participation with your metabolic health-care team.
Want to Know What Research Is Teaching Us?
Our Research Articles & Updates explain clinical trials, study results, emerging therapies and research developments in plain language.
Read Research Articles & Updates
Medical and research information:
Information on this page is provided for general educational purposes and does not constitute medical advice or a recommendation to participate in a particular study.
Research eligibility, recruitment status and study locations can change. Always confirm current information with the official study source or research team and work with your metabolic health-care team when considering participation.
Research eligibility, recruitment status and study locations can change. Always confirm current information with the official study source or research team and work with your metabolic health-care team when considering participation.