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

Maple Syrup Urine Disease Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04828863
• Other study ID #: 21-018443
• Status: Completed
• Start date: June 12, 2021
• Est. completion date: November 30, 2023

Study information

• Verified date: June 2024
• Source: Children's Hospital of Philadelphia
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 44
• Est. completion date: November 30, 2023
• Est. primary completion date: June 30, 2023
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 21 Years to 80 Years

Eligibility

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

Related Conditions & MeSH terms

• Maple Syrup Urine Disease

Intervention

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.

Locations

Country	Name	City	State
United States	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania

Sponsors (1)

Lead Sponsor	Collaborator
Children's Hospital of Philadelphia

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	Neurocognitive Outcome: Adaptive function	The Adaptive Behavior Assessment System 3 (ABAS-3) will be completed, scored, and scaled to age-matched norms.	1 year
Primary	Neurocognitive Outcome: Executive Function	The Adaptive Cognitive Evaluation will be completed, scored, and standardized to age-matched norms.	1 year
Secondary	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
Secondary	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