Remote Neurocognitive and Psychological Assessment in PKU

Overview

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.

Full Title of Study: “Remote Assessment of Working Memory and Anxiety in Individuals With Early-Treated Phenylketonuria (PKU)”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Cross-Sectional
  • Study Primary Completion Date: October 2, 2021

Interventions

  • Other: nointervention
    • Nointervention

Arms, Groups and Cohorts

  • Individuals with PKU
    • Adults with early-treated PKU
  • Individuals without PKU
    • Adults without PKU who are otherwise healthy

Clinical Trial Outcome Measures

Primary Measures

  • 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

Participating in This Clinical Trial

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.

Gender Eligibility: All

Minimum Age: 18 Years

Maximum Age: 40 Years

Are Healthy Volunteers Accepted: Accepts Healthy Volunteers

Investigator Details

  • Lead Sponsor
    • University of Missouri-Columbia
  • Provider of Information About this Clinical Study
    • Principal Investigator: Shawn Christ, Associate Professor – University of Missouri-Columbia
  • Overall Official(s)
    • Shawn Christ, PhD, Principal Investigator, University of Missouri-Columbia

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