Remote Neurocognitive and Psychological Assessment in PKU

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

84 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-11-24

Study Completion Date

2021-10-02

Brief Summary

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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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Detailed Description

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Conditions

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Phenylketonurias

Study Design

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Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Individuals with PKU

Adults with early-treated PKU

nointervention

Intervention Type OTHER

Nointervention

Individuals without PKU

Adults without PKU who are otherwise healthy

nointervention

Intervention Type OTHER

Nointervention

Interventions

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nointervention

Nointervention

Intervention Type OTHER

Eligibility Criteria

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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.

Minimum Eligible Age

18 Years

Maximum Eligible Age

40 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes