Research opportunities

Studies and research opportunities for Maple Syrup Urine Disease (MSUD)

This page gathers research studies related to Maple Syrup Urine Disease (MSUD). Studies are organized first by recruitment region and then by study type to help families and individuals more easily find relevant opportunities.

Good to know: Recruitment status, study locations, and eligibility criteria may change. CanPKU+ may add additional notes about Canadian sites when available, but for the most current information please consult the official study record.

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Recruiting in Canada Recruiting in North America Recruiting worldwide Completed studies Registry

Studies recruiting in Canada

Medical treatments and interventional studies

No studies are currently listed here. If we are missing something, please let us know at info@canpku.org.

Observational studies

No studies are currently listed here. If we are missing something, please let us know at info@canpku.org.

Studies recruiting in North America

No studies are currently listed here. If we are missing something, please let us know at info@canpku.org.

Studies recruiting Worldwide

No studies are currently listed here. If we are missing something, please let us know at info@canpku.org.

Studies not yet recruiting

Valine and Isoleucine Supplement Evaluation in MSUD
Status: Not yet recruiting
Disorder: Maple Syrup Urine Disease
Type: Observational study
NCT ID: NCT06581991
This study will evaluate ready-to-use valine and isoleucine supplements in children with MSUD to assess safety, practicality, and metabolic stability.
View study details on ClinicalTrials.gov

Completed / past observational studies

Neurocognitive Outcomes and Quality of Life in Adults With Maple Syrup Urine Disease
Status: Completed
Disorder: Maple Syrup Urine Disease
Type: Observational study
NCT ID: NCT04828863
This study examined cognition, behavior, life skills, and quality of life in adults with MSUD. It helps build understanding of long-term adult outcomes and support needs in the MSUD community.

View CanPKU+ study page
View study details on ClinicalTrials.gov

Looking for a registry?

Registries help collect long-term data and strengthen research. If you are interested in enrolling in the MSUD registry, please visit the page below.

Go to registry page