Development of Novel Psychological Assessment Tools and Anxiety Intervention for Phenylketonuria

NCT06560736 | Recruiting

• 1 other identifier: 2103266
• Study Type: interventional
• Target: 30
• Locations: 1 country
• Sites: 1

Brief Summary

While previous PKU intervention research has largely focused on pharmacological treatment of elevated Phe levels, the adaptation of evidence-based psychosocial therapy holds promise for addressing cognitive and psychological symptoms and significantly improving quality of life. Study goals include: (1) to demonstrate the efficacy and feasibility of a short-term skills-based intervention (Show Me FIRST) for anxiety and depression in adolescents with PKU, and (2) to further establish the psychometric validity of novel assessment measures recently developed by the Investigators that utilize ecological momentary assessment (EMA) to capture "in the moment" neurocognitive and psychological function. The Investigators propose to conduct a randomized controlled trial wherein 30 adolescents with PKU will be randomized to either an immediate intervention group or wait-list/delayed intervention group.

Conditions

Phenylketonurias

Outcome Measures

Primary Outcomes (2)

• PROMIS Anxiety & Depression scales

  Patient-reported outcome (PRO) measure of anxiety \& depression symptoms

  Weeks 0, 11, & 22

• Test My Brain phone-based EMA cognitive test

  Performance-based measure of cognitive skill \& attention

  Weeks 0, 11, & 22

Secondary Outcomes (10)

• Behavior Rating Inventory of Executive Function (BRIEF)

  Weeks 0, 11, & 22

• Blood Phenylalanine Levels

  Weeks 0, 5, 11, 16, & 22

• ADHD Rating Scale - 4th version (ADHD-RS-IV)

  Weeks 0, 11, & 22

• Executive Function, Attention, and Speed Symptom Inventory (EASSI) for PKU

  Weeks 0, 11, & 22

• Rey Auditory Verbal Learning Test (Rey AVLT)

  Weeks 0, 11, & 22

Study Arms (2)

Immediate Intervention Group

OTHER

Behavioral: Show Me FIRST coping skills intervention

Wait List / Delayed Intervention Group

OTHER

Behavioral: Show Me FIRST coping skills intervention

Interventions

Show Me FIRST coping skills intervention BEHAVIORAL

Show Me FIRST is a flexible, transdiagnostic intervention organized around well-tested principles of youth psychotherapeutic change.

Immediate Intervention Group; Wait List / Delayed Intervention Group

Eligibility Criteria

• Age: 10 Years - 17 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• Youth 10-17 years old and at least one parent/guardian
• Formal diagnosis of PKU (as confirmed/reported by caregiver): identified by newborn screening with PKU as evidenced by a blood Phe level ≥ 360μmol/L; received treatment within the first 30 days of life.
• Interest in receiving a brief, psychotherapeutic skills program to prevent and treat symptoms of anxiety and/or depression, according to parent- and youth-report
• Located in Missouri, Kansas, or Illinois.

You may not qualify if:

• Have significant intellectual disability (IQ\<70) or significant expressive or receptive language that would interfere with psychotherapy, according to parent- or youth-report
• Plans to receive non-study psychotherapy during the course of study participation, according to parent- or youth-report
• Plans to change current psychoactive or PKU-related medication during the course of study participation, according to parent- or youth-report
• Have active suicidal ideation that would necessitate immediate treatment or require higher level of care than brief psychotherapy, according to parent- or youth-report

Sponsors & Collaborators

• University of Missouri-Columbia: lead
• National PKU Alliance: collaborator

Study Sites (1)

University of Missouri

Columbia, Missouri, 65201, United States

RECRUITING

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

Central Study Contacts

Shawn Christ

CONTACT

573-884-8140; christse@missouri.edu

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor of Psychological Sciences

Model Details: Wait-list Control Design

Study Record Dates

• First Submitted: April 30, 2024
• First Posted: August 19, 2024
• Study Start: October 1, 2024
• Primary Completion (Estimated): August 31, 2026
• Study Completion (Estimated): August 31, 2026
• Last Updated: December 23, 2025

Record last verified: 2025-12

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)