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

Completed

• Conditions: Maple Syrup Urine Disease
• Interventions: Behavioral: Neurocognitive testing

• Registration Number: NCT04828863
• Lead Sponsor: Children's Hospital of Philadelphia

Brief 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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2021-03-24
• Study First Submitted QC: 2021-03-30
• Study First Posted: 2021-04-02
• Study Start: 2021-06-12
• Primary Completion: 2023-06-30
• Study Completion: 2023-11-30
• Status Verified: 2024-06
• Last Update Submitted: 2024-06-03
• Last Update Posted: 2024-06-04

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 44

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Control subjects	Neurocognitive testing	25 age-matched siblings or acquaintances who do not have MSUD and are 21 years and older
Index subjects	Neurocognitive testing	25 young adults with MSUD who are 21 years and older.

Primary Outcome Measures

Name	Time	Method
Neurocognitive Outcome: Adaptive function	1 year	The Adaptive Behavior Assessment System 3 (ABAS-3) will be completed, scored, and scaled to age-matched norms.
Neurocognitive Outcome: Executive Function	1 year	The Adaptive Cognitive Evaluation will be completed, scored, and standardized to age-matched norms.

Secondary Outcome Measures

Name	Time	Method
Health-related Quality of Life	1 year	The World Health Organization Quality of Life-BREF quality of life scale will be completed by self-report and informant repot. This report will be scored and scaled to the age-match comparison group. Scores range from 0-100 with higher scores correlating with better outcome.
Transition to adult-centered healthcare	1 year	Readiness for transition to adult-centered healthcare will be assessed using the • Transition Readiness Assessment Questionnaire (TRAQ) self-report and informant report. This report will be score.

Trial Locations

Locations (1)

Children's Hospital of Philadelphia; 🇺🇸 Philadelphia, Pennsylvania, United States