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CompletedNCT04943393Updated Apr 22, 2022

Remote Neurocognitive and Psychological Assessment in PKU

An observational study in Phenylketonurias, sponsored by University of Missouri-Columbia. Completed at 2 sites in United States. Open to participants aged 18 Years to 40 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2022-04-22.

Sponsored by University of Missouri-Columbia · Observational

Study type
Observational
Model
Cohort
Time perspective
Cross-sectional
Enrollment
84
Ages
18 Years to 40 Years
Sex
All
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Study 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 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.

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Conditions studied

  • Phenylketonurias

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In context

Phenylketonurias

183 studies on the registry are indexed under Phenylketonurias; 38 are open to participants now.

This study's enrollment of 84 is above the median of 40 across 60 observational studies indexed under Phenylketonurias.

Browse Phenylketonurias studies →

Lead sponsor

University of Missouri-Columbia is the lead sponsor of 357 studies on the registry; 70 are open to participants now.

Of its 42 completed or terminated interventional studies of FDA-regulated products, 28 (67%) have results posted.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
18 Years to 40 Years
Sexes eligible
All
Accepts healthy volunteers
Yes
Sampling method
Non-probability sample

Study population

Individuals age 18-40 years old with and without PKU

Inclusion criteria

  • Participants with PKU will be included if they were diagnosed as newborns and immediately started on treatment.

Exclusion criteria

Exclusion Criteria:

  • 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.
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Study design

Observational model
Cohort
Time perspective
Cross-sectional
Enrollment
84 participants (actual)
Patient registry
No
Biospecimen retention
Samples without dna

Groups and cohorts

  • Individuals with PKU

    Adults with early-treated PKU

    Other: nointervention

  • Individuals without PKU

    Adults without PKU who are otherwise healthy

    Other: nointervention

Interventions

  • Othernointervention

    Nointervention

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What researchers measure

Primary outcomes

  1. Working Memory performance

    Composite score based on multiple working memory-related CANTAB tests

    Time frame: 2.5-3 hrs total over approx 1-3 weeks

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Study locations

2 sites
  • Emory University
    Atlanta, Georgia 30322, United States
  • University of Missouri
    Columbia, Missouri 65211, United States
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References and documents

Individual participant data

Plan to share: Undecided — To be determined

No publications or documents are linked to this record.

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Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Apr 22, 2022, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT04943393
Lead sponsor
University of Missouri-Columbia
Responsible party
Shawn Christ (Associate Professor, University of Missouri-Columbia) — Principal investigator
First posted
Jun 29, 2021
Start date
Nov 24, 2020
Primary completion
Oct 2, 2021
Completion
Oct 2, 2021
Last update
Apr 22, 2022

Study contacts

Shawn Christ, PhD
principal investigator · University of Missouri-Columbia

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Apr 2022. You cannot join it, but the record below documents what was studied.

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