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Completed

NCT Number: NCT04828863

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

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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Key information

Conditions

Maple Syrup Urine Disease Amino Acid Metabolism, Inborn Errors Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases

Age range

21 year–80 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19143, United States

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

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.

Primary outcomes

  1. Neurocognitive Outcome: Executive Function

    Time frame: 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

    Time frame: 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

    Time frame: 1 year

    The Adaptive Cognitive Evaluation will be completed, scored, and standardized to age-matched norms.

Secondary outcomes

  1. Health-related Quality of Life

    Time frame: 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

    Time frame: 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.

Sponsors and collaborators

Lead sponsor

Children's Hospital of Philadelphia

Other

Registry information

Important dates

Study start
2021
Primary completion
2023
Study completion
2023
First posted
Apr 2, 2021
Registry last updated
Jun 4, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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