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Study details

Neurocognitive Outcomes and Quality of Life in Adults With Maple Syrup Urine Disease

This observational study explored how adults with MSUD think, feel, and manage daily life. It focused on cognition, behavior, life skills, and quality of life, with the goal of helping researchers and care teams better understand long-term adult outcomes in MSUD.

Study type
Observational study
Recruitment status
Completed
Recruitment geography
United States study
Study overview

Official study title: Neurocognitive Outcomes and Quality of Life in Adults With Maple Syrup Urine Disease

Condition: Maple Syrup Urine Disease

Intervention / therapy / focus: Neurocognitive testing, behavior, life skills, and quality-of-life assessment in adults with MSUD

Sponsor: Children's Hospital of Philadelphia

Collaborators: None listed

Study phase: Not applicable

Study type: Observational

ClinicalTrials.gov ID: NCT04828863

Last checked by CanPKU+: March 11, 2026

If you notice that this information is out of date, please let us know at website@canpku.org.

Who may qualify

ClinicalTrials.gov lists this study for adults age 21 years and older with MSUD who could communicate verbally or with augmentative communication well enough to take part in neurocognitive testing. The study also included comparison participants such as siblings or acquaintances of index subjects. Because the study is completed, it is no longer enrolling, but it remains useful as a model for adult outcome research in MSUD.

Important: Final eligibility is always determined by the study team.

Canadian site information

Current CanPKU+ classification: Completed / past

Canadian site listed on ClinicalTrials.gov: No

Canadian site note: No Canadian site confirmed at the time of review. This was a United States observational study sponsored by Children's Hospital of Philadelphia.

For sites outside Canada: Please use the official study record below for the most current list of locations.

Therapy background

This was not a drug treatment study. Instead, it was designed to learn more about long-term adult outcomes in people living with MSUD.

The study focused on thinking skills, behavior, life skills, and quality of life, while also looking at how medical and personal factors may affect those outcomes.

Research like this can help families, clinics, and advocacy groups better understand adult support needs and improve planning for long-term care and independence.

History and publications

This section can include earlier studies and publications related to this therapy, observation, or research program.

Earlier and related studies

Previous study / phase: No earlier directly linked study was identified during this review.

Status: Not applicable

ClinicalTrials.gov ID: Not applicable

CanPKU+ did not identify a clearly linked predecessor or follow-up study in ClinicalTrials.gov during this review.

Additional related study: No additional related study identified at the time of review.

Status: Not applicable

ClinicalTrials.gov ID: Not applicable

This page can be expanded later if CanPKU+ identifies future natural history or adult outcome studies that connect clearly to this one.

Publications and presentations

  • No publication was linked directly in the ClinicalTrials.gov summary reviewed by CanPKU+ at the time of review.
    Read publication or abstract
  • No additional presentations were identified during this review that needed to be added to this page.
    View source
  • This section can be updated later if the study team publishes outcomes from this work.
    View source

If you notice that this section is missing a publication or no longer reflects the latest study history, please let us know at website@canpku.org.

Official study record and links

For the most current status, full site list, and eligibility details, use the official study record.