Clinical trial NCT04828863: 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)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Maple Syrup Urine Disease
Lead sponsor: Children's Hospital of Philadelphia
Sponsor class: OTHER
First posted: 2021-04-02
Enrollment: 44
Sex: ALL
Minimum age (years): 21
Maximum age (years): 80
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: CROSS_SECTIONAL
Sampling method: PROBABILITY_SAMPLE
Study population: The study population will include 25 adults with MSUD and 25 age-matched adults for the comparison group.

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.


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

Primary outcomes:
measure: Neurocognitive Outcome: Executive Function
timeFrame: 1 year
measure: Neurocognitive Outcome: Adaptive function
timeFrame: 1 year
measure: Neurocognitive Outcome: Executive Function
timeFrame: 1 year
Secondary outcomes:
measure: Health-related Quality of Life
timeFrame: 1 year
measure: Transition to adult-centered healthcare
timeFrame: 1 year
Other outcomes:
Locations:
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
Study officials:
affiliation: Children's Hospital of Philadelphia
name: Jessica Gold, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: