Remote Neurocognitive and Psychological Assessment in PKU

NCT04943393 | Completed

• 1 other identifier: 2034504
• Study Type: observational
• Target: 84
• Locations: 1 country
• Sites: 2

Brief 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.

Conditions

Phenylketonurias

Outcome Measures

Primary Outcomes (1)

• Working Memory performance

  Composite score based on multiple working memory-related CANTAB tests

  2.5-3 hrs total over approx 1-3 weeks

Study Arms (2)

Individuals with PKU

Adults with early-treated PKU

Other: nointervention

Individuals without PKU

Adults without PKU who are otherwise healthy

Other: nointervention

Interventions

nointervention OTHER

Nointervention

Individuals with PKU; Individuals without PKU

Eligibility Criteria

• Age: 18 Years - 40 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Individuals age 18-40 years old with and without PKU

You may qualify if:

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

You may not qualify if:

• 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.

Sponsors & Collaborators

• University of Missouri-Columbia: lead

Study Sites (2)

Emory University

Atlanta, Georgia, 30322, United States

Location

University of Missouri

Columbia, Missouri, 65211, United States

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood phe levels

MeSH Terms

Conditions

Phenylketonurias

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Shawn Christ, PhD

  University of Missouri-Columbia

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor

Study Record Dates

• First Submitted: June 2, 2021
• First Posted: June 29, 2021
• Study Start: November 24, 2020
• Primary Completion: October 2, 2021
• Study Completion: October 2, 2021
• Last Updated: April 22, 2022

Record last verified: 2022-04

Locations

US (2)