NCT04828863

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

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 44 (actual)
• Sponsor: Children's Hospital of Philadelphia · Academic / Other
• Sex: All
• Age: 21 Years – 80 Years
• Healthy volunteers: Accepted

Summary

Maple Syrup Urine Disease (MSUD) is a disorder of protein metabolism that leads to neurological differences. It is an exciting time where people diagnosed with MSUD are living longer. The investigators want to learn about how adults with MSUD think, feel, and live. The purpose of this research study is to 1) look at thinking skills, behavior skills, life skills, and quality of life in adults with MSUD and 2) measure how medical and personal factors impact these areas. The results of the study will be used to learn how to best help adults with MSUD and how to prepare for their success. In this study, the participants will answer questions on thinking, life skills, behavior skills, and quality of life. These questions will be completed on the internet. The participants will have a formal testing of their thinking and behavior completed virtually. The participants may also have a 1-2-hour telephone conversation about their life. All tests will occur virtually at home. The investigators will send the participants a letter with the results of thinking and behavior tests.

Conditions

• Maple Syrup Urine Disease

Interventions

Type	Name	Description
BEHAVIORAL	Neurocognitive testing	Participants will undergo a battery of neurocognitive tests that examine intellectual, executive, and adaptive function. The tests will be given remotely via internet-based surveys.

Timeline

• Start date: 2021-06-12
• Primary completion: 2023-06-30
• Completion: 2023-11-30
• First posted: 2021-04-02
• Last updated: 2024-06-04

Locations

1 site across 1 country: United States