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

Trial Summary

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 data supports the effectiveness of the treatment Show Me FIRST for phenylketonuria?

The research highlights the importance of coping skills and psychosocial support in managing phenylketonuria (PKU), suggesting that treatments like Show Me FIRST, which focus on coping skills, could help patients better manage their condition and improve their emotional well-being. ^{1 2 3 4 5}

How does the Show Me FIRST treatment for phenylketonuria differ from other treatments?

The Show Me FIRST treatment is unique because it focuses on coping skills to help patients and their families manage the emotional and psychological challenges of living with phenylketonuria, rather than just addressing the dietary aspects of the condition. ^{1 2 3 4 6}

What is the purpose of this trial?

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.

Eligibility Criteria

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

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

Treatment Details

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.

Participant Groups

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+

Findings from Research

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]

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]

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]

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]

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]

References

1. Germany pubmed.ncbi.nlm.nih.gov

Phenylketonuria and some aspects of emotional development. [2019]

2. United States pubmed.ncbi.nlm.nih.gov

Familial variables as predictors of psychological maladjustment in Lithuanian children with phenylketonuria. [2015]

3. Netherlands pubmed.ncbi.nlm.nih.gov

A psychosocial model of a medical problem: Maternal phenylketonuria. [2021]

4. United States pubmed.ncbi.nlm.nih.gov

Family conditions and dietary control in phenylketonuria. [2019]

5. United States pubmed.ncbi.nlm.nih.gov

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

6. Switzerland pubmed.ncbi.nlm.nih.gov

Psychological adjustment of children with congenital hypothyroidism and phenylketonuria as related to parental psychological adjustment. [2018]