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

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.

Study Overview

• Status: Active, not recruiting
• Conditions: Maple Syrup Urine Disease
• Intervention / Treatment: Behavioral: Neurocognitive testing

• Study Type: Observational
• Enrollment (Actual): 44

Contacts and Locations

• Study Contact: Name: Jessica Gold; Phone Number: 267-600-4812; Email: goldj@chop.edu

Study Locations

• United States
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19143
      • Children's Hospital of Philadelphia

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 21 years to 80 years (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

• Sampling Method: Probability Sample

Study Population

The study population will include 25 adults with MSUD and 25 age-matched adults for the comparison group.

Description

Inclusion Criteria for Index Subjects:

• Males or females 21 years and older
• Diagnosis of MSUD
• Ability to communicate verbally or using augmentative communication effectively to participate in appropriate neurocognitive testing

Inclusion Criteria for Comparison Subjects:

• Males or females 21 years and older
• Sibling or acquaintance of index subject
• Ability to communicate verbally or using augmentative communication effectively to participate in appropriate neurocognitive testing

Exclusion Criteria for all subjects:

• Inability to communicate verbally or using augmentative communication effectively to participate in appropriate neurocognitive testing
• Subjects or guardians or who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures.
• Subjects or guardians who do not have internet access
• Subjects who do not speak English as a primary language

Study Plan

How is the study designed?

Design Details

• Observational Models: Other
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Index subjects; 25 young adults with MSUD who are 21 years and older.	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.
Control subjects; 25 age-matched siblings or acquaintances who do not have MSUD and are 21 years and older	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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Neurocognitive Outcome: Executive Function	The Behavior Rating Inventory of Executive Function for Adults will be completed, scored, and standardized to age-matched norms.	1 year
Neurocognitive Outcome: Adaptive function	The Adaptive Behavior Assessment System 3 (ABAS-3) will be completed, scored, and scaled to age-matched norms.	1 year
Neurocognitive Outcome: Executive Function	The Adaptive Cognitive Evaluation will be completed, scored, and standardized to age-matched norms.	1 year

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Health-related Quality of Life	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.	1 year
Transition to adult-centered healthcare	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.	1 year

Collaborators and Investigators

• Sponsor: Children's Hospital of Philadelphia
• Investigators: Principal Investigator: Jessica Gold, MD, PhD, Children's Hospital of Philadelphia

Study record dates

Study Major Dates

• Study Start (Actual): June 12, 2021
• Primary Completion (Actual): June 30, 2023
• Study Completion (Estimated): November 30, 2023

Study Registration Dates

• First Submitted: March 24, 2021
• First Submitted That Met QC Criteria: March 30, 2021
• First Posted (Actual): April 2, 2021

Study Record Updates

• Last Update Posted (Actual): September 21, 2023
• Last Update Submitted That Met QC Criteria: September 19, 2023
• Last Verified: September 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Amino Acid Metabolism, Inborn Errors; Maple Syrup Urine Disease
• Other Study ID Numbers: 21-018443

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: IPD will not be shared.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No