Research

Phenylketonuria (PKU / PCU)

• What is known about patients’ quality of life with Phenylketonuria and their caregivers?  (Oct 2024)
• Genetic etiology and clinical challenges of phenylketonuria (Jul 2022)

Homocystinuria (HCU)

• Homocystinuria: Advances in metabolic and molecular therapies targeting homocysteine pathways  (Nov 2025)
• High clinical burden of classical homocystinuria in the United States (Jan 2025)
• Current and novel therapeutic approaches of classical homocystinuria in childhood (2023)

Maple Syrup Urine Disease (MSUD)

• Insights from Metabolomics Profiling of MSUD in Pediatrics Towards Disease Progression (Oct 2025)

• Spectrum of genetic variants associated with MSUD in the Middle East, North Africa, and Türkiye (Mar 2025)

• Maple syrup urine disease: Mechanisms and management (Jul 2017)

• Biochemical correlates of neuropsychiatric illness in maple syrup urine disease (April 2013)

Urea Cycle Disorders (UCD / TCU)

• Perspectives on long-term medical management of urea cycle disorders: insights from a survey of UK healthcare professionals (Mar 2025)
• Health-Related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders (Nov 2023)
• A longitudinal study of urea cycle disorders (Aug 2014)

Family Engagement in Research

CanPKU+ believes that meaningful research must include the voices of individuals and families with lived experience.

• Staying on Track –  Sometimes, research projects don’t go as planned and it becomes difficult to communicate clearly, meet projected deadlines, or collaborate meaningfully. The TRACK approach helps family and research partners handle these ‘bumps in the road’ together.

Links to Other Research

We recognize and value the important research and advocacy efforts led by partner organizations across the rare disease community.?

• INFORM RARE – Canadian pediatric rare disease research network with strong patient engagement

• RareKidsCAN – Pediatric Rare Disease Clinical Trials & Treatment Network

• Family Engagement in Research (FER) Program – CanChild / Kids Brain Health Network training & community

• HCU Network America – HCU Heroes Race for Research & resources – global HCU advocacy & research support (including virtual events like Race for Research)

Additional research partners and resources may be added as collaborations evolve.

Registries

Registries play a critical role in advancing research, improving care, and strengthening advocacy.

Click here to learn more about registries supported and promoted by CanPKU+