Remote Neurocognitive and Psychological Assessment in PKU

April 21, 2022 updated by: Shawn Christ, University of Missouri-Columbia

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Actual)

84

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

    • Georgia
      • Atlanta, Georgia, United States, 30322
        • Emory University
    • Missouri
      • Columbia, Missouri, United States, 65211
        • University of Missouri

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 40 years (Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Individuals age 18-40 years old with and without PKU

Description

Inclusion Criteria:

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

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Cross-Sectional

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Individuals with PKU
Adults with early-treated PKU
Nointervention
Individuals without PKU
Adults without PKU who are otherwise healthy
Nointervention

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
2.5-3 hrs total over approx 1-3 weeks

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Investigators

  • Principal Investigator: Shawn Christ, PhD, University of Missouri-Columbia

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 24, 2020

Primary Completion (Actual)

October 2, 2021

Study Completion (Actual)

October 2, 2021

Study Registration Dates

First Submitted

June 2, 2021

First Submitted That Met QC Criteria

June 27, 2021

First Posted (Actual)

June 29, 2021

Study Record Updates

Last Update Posted (Actual)

April 22, 2022

Last Update Submitted That Met QC Criteria

April 21, 2022

Last Verified

April 1, 2022

More Information

Terms related to this study

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

Undecided

IPD Plan Description

To be determined

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Phenylketonurias

3
Subscribe