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

Brief Title

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

Official Title

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

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.
    

Study Type

Observational

Primary Outcome

Neurocognitive Outcome: Executive Function

Secondary Outcome

 Health-related Quality of Life

Condition

Maple Syrup Urine Disease

Intervention

Neurocognitive testing

Study Arms / Comparison Groups

 Index subjects

Description:  25 young adults with MSUD who are 21 years and older.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Status

Behavioral

Estimated Enrollment

50

Start Date

June 12, 2021

Completion Date

July 31, 2022

Primary Completion Date

July 31, 2022

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
      

Gender

All

Ages

21 Years - 80 Years

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

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Location Countries

United States

Location Countries

United States

NCT ID

NCT04828863

Organization ID

21-018443

Responsible Party

Principal Investigator

Study Sponsor

Children's Hospital of Philadelphia

Study Sponsor

, , 

Verification Date

May 2022