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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Index subjects | 25 young adults with MSUD who are 21 years and older. |
| |
| Control subjects | 25 age-matched siblings or acquaintances who do not have MSUD and are 21 years and older |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 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. |
| 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 |
| 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 |
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Inclusion Criteria for Index Subjects:
Inclusion Criteria for Comparison Subjects:
Exclusion Criteria for all subjects:
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The study population will include 25 adults with MSUD and 25 age-matched adults for the comparison group.
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| Name | Affiliation | Role |
|---|---|---|
| Jessica Gold, MD, PhD | Children's Hospital of Philadelphia | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Children's Hospital of Philadelphia | Philadelphia | Pennsylvania | 19143 | United States |
IPD will not be shared.
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| ID | Term |
|---|---|
| D008375 | Maple Syrup Urine Disease |
| ID | Term |
|---|---|
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
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| 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 |
| D009422 | Nervous System Diseases |
| D000592 | Amino Acid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |