MedTrace Logo

Evaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression Kuvan Nonresponders

NCT01274026 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 21

Last updated 2023-08-14

No results posted yet for this study

Summary

This observational study seeks to establish evidence:

1. that physiologic changes, unrelated to effect on the Phenylalanine Hydroxylase (PAH) enzyme, occur in Phenylketonuria (PKU) patients who are treated with sapropterin (Kuvan®) therapy,
2. that these changes may be caused by enhanced neurotransmitter synthesis in the brain or an upregulation of gene expression (increasing the ability of genes to produce functional enzymes),
3. and that beneficial changes in behavior and cognition, especially executive functioning skills may result.

The objective of this study is to correlate any change in behavior and executive function skills of PKU patients who are non-responsive to sapropterin effect on the PAH enzyme, as defined by lowered blood PHE levels, with urine neurotransmitter levels and broad gene expression prior to and after sapropterin administration.

Expected outcomes would include evidence of sapropterin effects on upregulation of enzymes other than PAH that control neurotransmitter synthesis, and any resulting correlation with behavioral and cognitive changes.

The investigators hope this study will inform further detailed investigations into the biochemical and molecular actions of sapropterin (Kuvan®) that lead to increased understanding of possible treatment effects beyond a lowered blood PHE response.

Conditions

Interventions

DRUG

sapropterin dihydrochloride

In 30 PKU patients found previously to exhibit no decrease in blood PHE levels behavioral and cognitive function, neurotransmitter levels, and gene expression of enzyme activity will be measured at baseline and after 4 weeks of Kuvan administration. Rating inventories of executive function performance and behavior will be administered to patients and parents. Urine neurotransmitters, blood microarray expression, and plasma amino acids will be measured (plasma PHE and TYR levels will also be measured at weeks 1 and 2). Nutrient analysis of 3 day food diaries will be conducted.

Sponsors & Collaborators

Principal Investigators

  • Hans C Andersson, MD · Tulane University School of Medicine

Eligibility

Min Age
2 Years
Max Age
21 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2011-01-31
Primary Completion
2013-12-31
Completion
2013-12-31

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01274026 on ClinicalTrials.gov