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

NCT04828863 | Completed

• 1 other identifier: 21-018443
• Study Type: observational
• Target: 44
• Locations: 1 country
• Sites: 1

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.

Conditions

Maple Syrup Urine Disease

Outcome Measures

Primary Outcomes (3)

• 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 Outcomes (2)

• Health-related Quality of Life

  1 year

• Transition to adult-centered healthcare

  1 year

Study Arms (2)

Index subjects

25 young adults with MSUD who are 21 years and older.

Behavioral: Neurocognitive testing

Control subjects

25 age-matched siblings or acquaintances who do not have MSUD and are 21 years and older

Behavioral: Neurocognitive testing

Interventions

Neurocognitive testing BEHAVIORAL

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; Index subjects

Eligibility Criteria

• Age: 21 Years - 80 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

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

You may qualify if:

• 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
• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Children's Hospital of Philadelphia: lead

Study Sites (1)

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19143, United States

Location

MeSH Terms

Conditions

Maple Syrup Urine Disease

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Jessica Gold, MD, PhD

  Children's Hospital of Philadelphia

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 24, 2021
• First Posted: April 2, 2021
• Study Start: June 12, 2021
• Primary Completion: June 30, 2023
• Study Completion: November 30, 2023
• Last Updated: June 4, 2024

Record last verified: 2024-06

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)