PhenylketonuriasNCT04943393
Remote Neurocognitive and Psychological Assessment in PKU
An observational study of Phenylketonurias, run by University of Missouri-Columbia at 2 sites in United States.
Trial summary
PKU is a rare autosomal recessive condition associated with disruption in dopamine synthesis. Although early diagnosis and treatment prevent the severe impairments associated with untreated PKU, individuals with early-treated PKU (ETPKU) nonetheless experience significant sequelae, including impaired working memory… Read more about this study
- Who is it for?
- Ages 18 to 40 yearsHealthy volunteers can take part
- Conditions the study is for
- Phenylketonurias
- What is being tested?
- nointervention
- How many people
- 84 participants
- Where
- 2 sitesUnited States
- Study dates
- 24 Nov 2020to 2 Oct 2021
- 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 18 to 40 years
- All sexes
- Healthy volunteers accepted
- Adult
Study population: Individuals age 18-40 years old with and without PKU
Who may be able to join
- Participants with PKU will be included if they were diagnosed as newborns and immediately started on treatment.
Who cannot join
- Individuals with a history of neurologic compromise or major medical disorder unrelated to PKU (e.g., closed head injury, diabetes, multiple sclerosis) will be excluded. In addition, individuals with PKU will be excluded if they are on a medication called Peg-Valiant/ PEG-PAL/ Pegvaliase/Palynziq.
Trial locations and contacts
2 sites in 1 country.
United States2 sites
Emory University
Atlanta, Georgia, 30322
University of Missouri
Columbia, Missouri, 65211
About this study
Official title: Remote Assessment of Working Memory and Anxiety in Individuals With Early-Treated Phenylketonuria (PKU)
PKU is a rare autosomal recessive condition associated with disruption in dopamine synthesis. Although early diagnosis and treatment prevent the severe impairments associated with untreated PKU, individuals with early-treated PKU (ETPKU) nonetheless experience significant sequelae, including impaired working memory and increased risk for anxiety problems. Past research with other clinical populations (e.g., generalized anxiety disorder) suggests that the two phenomena may be linked, with increased anxiety contributing to poorer WM performance. Currently we propose to initiate an exciting new line of research examining the potential relationship between anxiety and WM in ETPKU. The proposed study will also apply remote neuropsychological performance-based assessment to the study of ETPKU and thus overcoming the geographical limitations/challenges associated with recruitment of participants with this rare disease.
- Conditions
- Phenylketonurias
- Being tested
- nointervention
- Medical subject headings
- Phenylketonurias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
nointerventionOther
Nointervention
| Study group | Role | What they receive |
|---|---|---|
| Individuals with PKU | Adults with early-treated PKU Receives: Other: nointervention | |
| Individuals without PKU | Adults without PKU who are otherwise healthy Receives: Other: nointervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
Working Memory performance
Composite score based on multiple working memory-related CANTAB tests
Measured: 2.5-3 hrs total over approx 1-3 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Jun 2021
- Study start24 Nov 2020
- Primary completion2 Oct 2021
- Study completion2 Oct 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for PhenylketonuriasStudies of the same condition, open and under way.
- More trials run by University of Missouri-ColumbiaThe 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
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 84 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Missouri-Columbia
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Shawn Christ, University of Missouri-Columbia
- Investigators
- Shawn Christ, PhD, Principal investigator, University of Missouri-Columbia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04943393
- Sponsor's protocol ID
- 2034504
- Status last verified
- Apr 2022
- First submitted
- 2 Jun 2021
- Last updated
- 22 Apr 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: To be determined
Study at a glance
From the registry record, last updated by the sponsor on 22 Apr 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Remote Assessment of Working Memory and Anxiety in Individuals With Early-Treated Phenylketonuria (PKU)
- ClinicalTrials.gov ID
- NCT04943393
- Acronym / sponsor ID
- 2034504
- Conditions
- Phenylketonurias
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 84 participants (actual)
- Lead sponsor
- University of Missouri-ColumbiaUniversity, hospital or other
- Study start
- 24 Nov 2020 (actual)
- Primary completion
- 2 Oct 2021 (actual)
- Study completion
- 2 Oct 2021 (actual)
- First posted
- 29 Jun 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.
PKU is a rare autosomal recessive condition associated with disruption in dopamine synthesis. Although early diagnosis and treatment prevent the severe impairments associated with untreated PKU, individuals with early-treated PKU (ETPKU) nonetheless experience significant sequelae, including impaired working memory and increased risk for anxiety problems. Past research with other clinical populations (e.g., generalized anxiety disorder) suggests that the two phenomena may be linked, with increased anxiety contributing to poorer WM performance. Currently we propose to initiate an exciting new line of research examining the potential relationship between anxiety and WM in ETPKU. The proposed study will also apply remote neuropsychological performance-based assessment to the study of ETPKU and thus overcoming the geographical limitations/challenges associated with recruitment of participants with this rare disease.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Individuals with PKU | – | Other: nointerventionAdults with early-treated PKU |
| Individuals without PKU | – | Other: nointerventionAdults without PKU who are otherwise healthy |
Who may qualify
- Ages
- 18 to 40 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult
- Study population
- Individuals age 18-40 years old with and without PKU
Key inclusion criteria (1 listed)
- Participants with PKU will be included if they were diagnosed as newborns and immediately started on treatment.
Key exclusion criteria (1 listed)
- Individuals with a history of neurologic compromise or major medical disorder unrelated to PKU (e.g., closed head injury, diabetes, multiple sclerosis) will be excluded. In addition, individuals with PKU will be excluded if they are on a medication called Peg-Valiant/ PEG-PAL/ Pegvaliase/Palynziq.
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 |
|---|---|---|
| nointerventionNointervention | Other | Individuals with PKU, Individuals without PKU |
Primary outcome
Working Memory performance
Time frame: 2.5-3 hrs total over approx 1-3 weeks
Composite score based on multiple working memory-related CANTAB tests
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 22 Apr 2022.
- Individual participant dataSharing planned: Undecided. To be determined
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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.
Shawn Christ, PhD principal investigator
University of Missouri-Columbia
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Phenylketonurias, run by University of Missouri-Columbia at 2 sites 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 1 inclusion and 1 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 22 Apr 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites 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?
Working Memory performance (time frame: 2.5-3 hrs total over approx 1-3 weeks). 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 22 Apr 2022.