Status:

COMPLETED

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

Lead Sponsor:

Children's Hospital of Philadelphia

Conditions:

Maple Syrup Urine Disease

Eligibility:

All Genders

21-80 years

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 investigator...

Eligibility Criteria

Inclusion

  • 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

Exclusion

    Key Trial Info

    Start Date :

    June 12 2021

    Trial Type :

    OBSERVATIONAL

    Allocation :

    ACTUAL

    End Date :

    November 30 2023

    Estimated Enrollment :

    44 Patients enrolled

    Trial Details

    Trial ID

    NCT04828863

    Start Date

    June 12 2021

    End Date

    November 30 2023

    Last Update

    June 4 2024

    Active Locations (1)

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    Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania, United States, 19143