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

NCT ID: NCT04828863

Last Updated: 2024-06-04

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 44 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2021-06-12
• Study Completion Date: 2023-11-30

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

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: CROSS_SECTIONAL

Study Groups

Index subjects

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

Neurocognitive testing

Intervention Type: 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

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

Neurocognitive testing

Intervention Type: 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.

Interventions

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.

Intervention Type: BEHAVIORAL

Eligibility Criteria

Inclusion Criteria

• 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

Exclusion Criteria

• 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

• Minimum Eligible Age: 21 Years
• Maximum Eligible Age: 80 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Children's Hospital of Philadelphia

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Jessica Gold, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Children's Hospital of Philadelphia

Locations

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Countries

United States

Other Identifiers

21-018443

Identifier Type: -

Identifier Source: org_study_id