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

• Sponsor: Children's Hospital of Philadelphia (Other)
• Overall Status: Recruiting
• CT.gov ID: NCT04828863
• Collaborator: (none)
• Enrollment: 50
• Location: 1
• Anticipated Duration (Months): 13.6
• Patients Per Site Per Month: 3.7

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Maple Syrup Urine Disease	Behavioral: Neurocognitive testing

Study Design

• Study Type: Observational
• Anticipated Enrollment: 50 participants
• Observational Model: Other
• Time Perspective: Prospective
• Official Title: Neurocognitive Outcomes and Quality of Life in Adults With Maple Syrup Urine Disease (MSUD)
• Actual Study Start Date: Jun 12, 2021
• Anticipated Primary Completion Date: Jul 31, 2022
• Anticipated Study Completion Date: Jul 31, 2022

Arms and Interventions

Arm	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.

Outcome Measures

Primary Outcome Measures

1. Neurocognitive Outcome: Executive Function [1 year]

   The Behavior Rating Inventory of Executive Function for Adults will be completed, scored, and standardized to age-matched norms.

2. Neurocognitive Outcome: Adaptive function [1 year]

   The Adaptive Behavior Assessment System 3 (ABAS-3) will be completed, scored, and scaled to age-matched norms.

3. Neurocognitive Outcome: Executive Function [1 year]

   The Delis-Kaplan Executive Function System will be completed, scored, and standardized to age-matched norms.

Secondary Outcome Measures

1. 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.

2. 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.

Eligibility Criteria

Criteria

• Ages Eligible for Study: 21 Years to 80 Years
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: Yes

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania	United States	19143

Sponsors and Collaborators

• Children's Hospital of Philadelphia

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: Jessica Gold, Clinical Genetics Fellow, Children's Hospital of Philadelphia
• ClinicalTrials.gov Identifier: NCT04828863
• Other Study ID Numbers: 21-018443
• First Posted: Apr 2, 2021
• Last Update Posted: May 10, 2022
• Last Verified: May 1, 2022

• Individual Participant Data (IPD) Sharing Statement: No
• Plan to Share IPD: No
• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No
• Additional relevant MeSH terms: Maple Syrup Urine Disease

Study Results

No Results Posted as of May 10, 2022