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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04828863
Recruitment Status : Recruiting
First Posted : April 2, 2021
Last Update Posted : May 10, 2022
Sponsor:
Information provided by (Responsible Party):
Jessica Gold, Children's Hospital of Philadelphia

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
Maple Syrup Urine Disease Behavioral: Neurocognitive testing

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Study Type : Observational
Estimated 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 : June 12, 2021
Estimated Primary Completion Date : July 31, 2022
Estimated Study Completion Date : July 31, 2022


Group/Cohort 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.




Primary Outcome Measures :
  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 Delis-Kaplan Executive Function System will be completed, scored, and standardized to age-matched norms.


Secondary Outcome Measures :
  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.



Information from the National Library of Medicine

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Ages Eligible for Study:   21 Years to 80 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
The study population will include 25 adults with MSUD and 25 age-matched adults for the comparison group.
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04828863


Locations
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United States, Pennsylvania
Children's Hospital of Philadelphia Recruiting
Philadelphia, Pennsylvania, United States, 19143
Contact: Jessica Gold, MD, PhD    215-590-3376    goldj@chop.edu   
Sponsors and Collaborators
Children's Hospital of Philadelphia
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Responsible Party: Jessica Gold, Clinical Genetics Fellow, Children's Hospital of Philadelphia
ClinicalTrials.gov Identifier: NCT04828863    
Other Study ID Numbers: 21-018443
First Posted: April 2, 2021    Key Record Dates
Last Update Posted: May 10, 2022
Last Verified: May 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: IPD will not be shared.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Maple Syrup Urine Disease
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases