Coping Skills Intervention for Phenylketonuria

Overseen By Shawn Christ

Age: < 18

Sex: Any

Trial Phase: Academic

Sponsor: University of Missouri-Columbia

Disqualifiers: Intellectual disability, Suicidal ideation, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: 11

Duration: 10 weeks

30 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial tests a new skills-based program called Show Me FIRST, designed to help adolescents with phenylketonuria (PKU) manage anxiety and depression. Instead of focusing on medication, the study examines how therapy can improve mental health and overall quality of life for those with PKU. Participants will split into two groups: one will start the therapy immediately, while the other will join later. Teens aged 10-17 with PKU who live in Missouri, Kansas, or Illinois and are interested in learning new coping skills might be a good fit for this trial. As an unphased trial, this study offers a unique opportunity for participants to explore innovative therapy methods that could enhance their mental well-being.

Will I have to stop taking my current medications?

The trial requires that you do not change your current psychoactive or PKU-related medications during the study.

What prior data suggests that this intervention is safe for adolescents with PKU?

Research has shown that the "Show Me FIRST" program is a skills-based therapy designed to reduce anxiety and depression in teenagers with Phenylketonuria (PKU). Unlike medication, this therapy avoids the side effects drugs might cause, focusing instead on teaching coping skills to improve mental health.

Since this is not a drug treatment, typical safety concerns related to medications, such as side effects, do not apply. Studies have not identified any safety risks with this type of therapy. Generally, these therapies are well-tolerated because they involve learning and practicing new skills rather than taking medication. This makes it a promising option for those seeking to improve their mental well-being without the concerns associated with drug treatments. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about the "Show Me FIRST" intervention for phenylketonuria (PKU) because it focuses on developing coping skills, which is a fresh approach compared to the traditional dietary management of the condition. Unlike current treatments that primarily rely on strict dietary restrictions to manage phenylalanine levels, this intervention aims to empower individuals with PKU by providing them with psychological tools to better manage the emotional and social challenges of the disorder. This approach could potentially enhance quality of life and adherence to treatment, addressing a critical aspect that current medical treatments don't fully cover.

What evidence suggests that the Show Me FIRST intervention could be effective for anxiety and depression in adolescents with PKU?

Research has shown that therapies focusing on social and psychological support can improve mental health. While most treatments for PKU (Phenylketonuria) focus on controlling Phe (phenylalanine) levels, mental health remains crucial. This trial will compare two groups: one receiving the Show Me FIRST intervention immediately and another on a wait list for delayed intervention. Early results suggest that skill-building programs like Show Me FIRST might reduce anxiety and depression in teenagers with PKU. Although specific data on this treatment is limited, similar methods in other conditions have demonstrated positive effects on emotional well-being. The goal is to enhance quality of life by addressing both cognitive and emotional challenges. ^{3 6 7 8 9}

Are You a Good Fit for This Trial?

This trial is for youths aged 10-17 with Phenylketonuria (PKU), and their guardians, who are interested in a psychotherapeutic program to manage anxiety or depression. Participants must be from Missouri, Kansas, or Illinois and have been diagnosed with PKU at birth with treatment starting within the first month of life.

Inclusion Criteria

I live in Missouri, Kansas, or Illinois.

I am between 10-17 years old and have a parent or guardian.

I was diagnosed with PKU at birth and started treatment within the first month.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Participants receive the 10-week Show Me First program for treatment of anxiety and depression

10 weeks

Remote administration via videoconference and cell-phone applications

Follow-up

Participants are monitored for safety and effectiveness after treatment through psychological and neurocognitive evaluations

12 weeks

Assessments at Weeks 11 and 22

What Are the Treatments Tested in This Trial?

Interventions

• Show Me FIRST

Trial Overview The study tests 'Show Me FIRST', a short-term intervention aimed at reducing anxiety and depression in adolescents with PKU. It also evaluates new psychological assessment tools using real-time data collection on cognitive and emotional states.

How Is the Trial Designed?

Group I: Wait List / Delayed Intervention Group Experimental Treatment 1 Intervention

Group II: Immediate Intervention Group Experimental Treatment 1 Intervention

Who Is Running the Clinical Trial?

University of Missouri-Columbia

Lead Sponsor

Trials

387

Recruited

629,000+

National PKU Alliance

Collaborator

Trials

3

Recruited

50+

Published Research Related to This Trial

In a study of 41 children and youths with phenylketonuria (PKU), it was found that overall compliance with the dietary restrictions necessary for managing PKU was good among participants.

However, patients with separated or divorced parents had higher phenylalanine levels, indicating that family dynamics can significantly impact the management of PKU and the need for tailored support.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Family conditions and dietary control in phenylketonuria. Olsson, GM., Montgomery, SM., Alm, J.[2019]

Early dietary treatment of phenylketonuria (PKU) effectively prevents severe intellectual and neurological issues, but some neuropsychological challenges remain.

The complexity of managing PKU and its treatment creates emotional burdens for both children and their parents, suggesting that pediatric care should include psychological counseling to support coping strategies.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Phenylketonuria and some aspects of emotional development. Hendrikx, MM., van der Schot, LW., Slijper, FM., et al.[2019]

Parents of 63 children with phenylketonuria and congenital hypothyroidism reported that maladaptive emotional coping and indulgence towards their sick child contribute to higher rates of internalizing psychological problems in these children.

Parental feelings of guilt regarding their child's condition are also linked to increased psychological issues in children, highlighting the importance of parental adjustment in the overall psychological well-being of affected children.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Psychological adjustment of children with congenital hypothyroidism and phenylketonuria as related to parental psychological adjustment. Jusiene, R., Kucinskas, V.[2018]

Children with treated phenylketonuria (PKU) show significantly more emotional and behavioral problems compared to healthy peers, indicating a higher risk for psychological maladjustment.

Parental maladjustment, including feelings of guilt and the use of maladaptive coping strategies, contributes to the psychological challenges faced by these children, suggesting that support for parents may be crucial in improving outcomes for children with PKU.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Familial variables as predictors of psychological maladjustment in Lithuanian children with phenylketonuria. Jusiene, R., Kucinskas, V.[2015]

A low phenylalanine diet, started before conception, is crucial for women with maternal phenylketonuria (PKU) to prevent serious health issues in their children, such as mental retardation and congenital heart disease.

The study introduces a psychosocial model outlining four key stages in managing maternal PKU, highlighting the importance of understanding behavioral goals and psychosocial factors to improve adherence to dietary recommendations during pregnancy.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

A psychosocial model of a medical problem: Maternal phenylketonuria. Shiloh, S., Waisbren, SE., Levy, HL.[2021]

A significant number of adults with phenylketonuria (PKU) are not receiving treatment, with outreach efforts successfully re-engaging 63 out of 115 previously treated patients, leading to 21 returning to care.

Barriers to treatment include inadequate insurance coverage and a lack of understanding of PKU's significance, compounded by social and psychiatric symptoms, highlighting the need for comprehensive strategies to support these patients.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Reaching out to the lost generation of adults with early-treated phenylketonuria (PKU). Burton, BK., Leviton, L.[2023]

Citations

1. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC10349532/

Recent Advances in Phenylketonuria: A Review - PMC It was observed that 78.2% of the patients were diagnosed early by neonatal screening, whereas 21.8% belonged to the clinical diagnosis group.

2. sciencedirect.com sciencedirect.com/science/article/pii/S2949774425000032

O01: Efficacy and safety outcomes of JNT-517, a first-in- ... At day 28 of therapy, 57% and 80% of individuals with PKU receiving JN-517 at 75 and 150 mg BID achieved plasma Phe level <600 μmol/L (as recommended by ...

3. ojrd.biomedcentral.com ojrd.biomedcentral.com/articles/10.1186/s13023-025-03840-y

Current state of the treatment landscape of phenylketonuria Results of the phase 3 clinical trial (NCT05099640) are promising and show a reduction of ≥ 30% in blood Phe levels without any severe ...

4. phefree.rarediseasesnetwork.org phefree.rarediseasesnetwork.org/news/phenylketonuria-over-time-what-were-learning-natural-history-study

Phenylketonuria Over Time: What We're Learning from a ... The team is gathering information over time about participants' health, well-being, and thinking abilities to improve treatment and quality of life.

5. thelancet.com thelancet.com/journals/lanam/article/PIIS2667-193X(25)00144-9/fulltext

Patient journey and disease burden characterization of the ... Overall, 7615 patients with a record of PKU diagnosis were registered in DATASUS. Based on the first record of PKU diagnosis date recorded, 2435 (32%) had their ...

6. ncbi.nlm.nih.gov ncbi.nlm.nih.gov/books/NBK535378/

Phenylketonuria - StatPearls - NCBI Bookshelf Phenylketonuria (PKU) is an inborn error of metabolism (IEM) most often caused by missense mutations in the gene encoding phenylalanine hydroxylase (PAH).

7. mayoclinic.org mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/syc-20376302

Phenylketonuria (PKU) - Symptoms and causes PKU is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body.

8. bmcmedgenomics.biomedcentral.com bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-024-01847-1

First successful outcomes of pegvaliase (PALYNZIQ) in children Evaluating adverse events (AEs) associated with pegvaliase treatment in PKU patients provides crucial insights into the therapy's safety profile ...

9. clinicaltrials.gov clinicaltrials.gov/study/NCT03516487

Safety and Tolerability of SYNB1618 in Healthy Adult ... This study is evaluating the safety, tolerability, kinetics, and pharmacodynamics of SYNB1618 within the following 2 study parts.