Maple Syrup Urine DiseaseNCT04828863
Neurocognitive Outcomes and Quality of Life in Adults With Maple Syrup Urine Disease (MSUD)
An observational study of Maple Syrup Urine Disease, run by Children's Hospital of Philadelphia at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 21 to 80 yearsHealthy volunteers can take part
- Conditions the study is for
- Maple Syrup Urine Disease
- What is being tested?
- Neurocognitive testing
- Type of treatment
- Lifestyle or therapy programme
- How many people
- 44 participants
- Where
- 1 siteUnited States
- Study dates
- 12 Jun 2021to 30 Nov 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 21 to 80 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: The study population will include 25 adults with MSUD and 25 age-matched adults for the comparison group.
Who may be able to join
- 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
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
United States1 site
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19143
About this study
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.
- Conditions
- Maple Syrup Urine Disease
- Being tested
- Neurocognitive testing
- Medical subject headings
- Maple Syrup Urine Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Neurocognitive testingBehavioural
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.
| Study group | Role | What they receive |
|---|---|---|
| Index subjects | 25 young adults with MSUD who are 21 years and older. Receives: Behavioral: Neurocognitive testing | |
| Control subjects | 25 age-matched siblings or acquaintances who do not have MSUD and are 21 years and older Receives: Behavioral: Neurocognitive testing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Neurocognitive Outcome: Executive Function
The Behavior Rating Inventory of Executive Function for Adults will be completed, scored, and standardized to age-matched norms.
Measured: 1 year
Neurocognitive Outcome: Adaptive function
The Adaptive Behavior Assessment System 3 (ABAS-3) will be completed, scored, and scaled to age-matched norms.
Measured: 1 year
Neurocognitive Outcome: Executive Function
The Adaptive Cognitive Evaluation will be completed, scored, and standardized to age-matched norms.
Measured: 1 year
Secondary outcomes (2)
Health-related Quality of Life
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.
Measured: 1 year
Transition to adult-centered healthcare
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.
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Apr 2021
- Study start12 Jun 2021
- Primary completion30 Jun 2023
- Study completion30 Nov 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Maple Syrup Urine DiseaseStudies of the same condition, open and under way.
- More trials run by Children's Hospital of PhiladelphiaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 44 participants (actual)
Sponsor and investigators
- Lead sponsor
- Children's Hospital of Philadelphia
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Jessica Gold, MD, PhD, Principal investigator, Children's Hospital of Philadelphia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04828863
- Sponsor's protocol ID
- 21-018443
- Status last verified
- Jun 2024
- First submitted
- 24 Mar 2021
- Last updated
- 4 Jun 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: IPD will not be shared.
Study at a glance
From the registry record, last updated by the sponsor on 4 Jun 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Neurocognitive Outcomes and Quality of Life in Adults With Maple Syrup Urine Disease (MSUD)
- ClinicalTrials.gov ID
- NCT04828863
- Acronym / sponsor ID
- 21-018443
- Conditions
- Maple Syrup Urine Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 44 participants (actual)
- Lead sponsor
- Children's Hospital of PhiladelphiaUniversity, hospital or other
- Study start
- 12 Jun 2021 (actual)
- Primary completion
- 30 Jun 2023 (actual)
- Study completion
- 30 Nov 2023 (actual)
- First posted
- 2 Apr 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Index subjects | – | Behavioral: Neurocognitive testing25 young adults with MSUD who are 21 years and older. |
| Control subjects | – | Behavioral: Neurocognitive testing25 age-matched siblings or acquaintances who do not have MSUD and are 21 years and older |
Who may qualify
- Ages
- 21 to 80 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- The study population will include 25 adults with MSUD and 25 age-matched adults for the comparison group.
Key inclusion criteria (6 listed)
- 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
- Males or females 21 years and older
- Sibling or acquaintance of index subject
Key exclusion criteria (4 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Neurocognitive testingParticipants will undergo a battery of neurocognitive tests that examine intellectual, executive, and adaptive function. The tests will be given remotely via internet-based surveys. | Behavioural | Control subjects, Index subjects |
Primary outcome
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.
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.
Neurocognitive Outcome: Executive Function
Time frame: 1 year
The Adaptive Cognitive Evaluation will be completed, scored, and standardized to age-matched norms.
2 secondary outcomes
Health-related Quality of Life
Time frame: 1 year
Transition to adult-centered healthcare
Time frame: 1 year
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Jun 2024.
- Individual participant dataSharing planned: No. IPD will not be shared.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Jessica Gold, MD, PhD principal investigator
Children's Hospital of Philadelphia
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Maple Syrup Urine Disease, run by Children's Hospital of Philadelphia at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 4 Jun 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Neurocognitive Outcome: Executive Function (time frame: 1 year). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Jun 2024.