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

Study Overview
=================
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.

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

Conditions
-----------------
Maple Syrup Urine Disease

Intervention / Treatment
-----------------
* Behavioral: Neurocognitive testing


Participation Criteria
=================
Eligibility Criteria
-----------------
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

Ages Eligible for Study
-----------------
Minimum Age: 21 Years
Maximum Age: 80 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
Accepts Healthy Volunteers

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Index subjects<br>25 young adults with MSUD who are 21 years and older. | Behavioral: Neurocognitive testing<br>* 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.<br>|
| Control subjects<br>25 age-matched siblings or acquaintances who do not have MSUD and are 21 years and older | Behavioral: Neurocognitive testing<br>* 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.<br>|

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 |