Overview

This trial is active, not recruiting.

Condition phenylketonuria
Sponsor Emory University
Collaborator BioMarin Pharmaceutical
Start date October 2008
End date February 2010
Trial size 62 participants
Trial identifier NCT00688844, IRB-7828

Summary

HYPOTHESIS: We hypothesize that KuvanTM therapy could influence nutritional and body composition parameters and neurotransmitter concentrations in pediatric and adult PKU subjects.

SUMMARY: Though we know that KuvanTM lowers blood Phe levels and improves tolerance for natural protein in at least half of the PKU (Phenylketonuria) patient population, we do not know the full effects this medicine will have on the patient's diet, or what impact the medicine or diet changes will have on the body composition or nutrient status of PKU patients. Since KuvanTM may also help the body produce neurotransmitters, we also want to find out if taking KuvanTM changes neurotransmitter levels in PKU patients, and if PKU patients who are benefitting from KuvanTM feel less stigmatized and have a better outlook on life as a result of the treatment.

Therefore, our research study has several objectives. These are to investigate the impact KuvanTM therapy has on (1) body composition parameters of PKU patients: such as lean body mass, percent body fat, bone density, weight gain, and growth (2) dietary changes, and the effect of those changes, on intake of calories and essential nutrients (3) changes in blood biomarkers of certain nutrients (4) blood and urine neurotransmitter levels, since these changes could indicate improved neurological functioning, (5) and quality of life of PKU patients, who may feel less burdened due to the dietary freedom KuvanTM provides.

United States No locations recruiting
Other Countries No locations recruiting

Study Design

Observational model cohort
Time perspective prospective
Arm
PKU subjects starting KuvanTM therapy.

Primary Outcomes

Measure
Changes in body composition: fat mass, lean mass, bone density, anthropometrics
time frame: 12 months
Nutritional status: Changes in blood nutrition markers, macronutrient intake and micronutrient intake
time frame: 12 months
Changes in blood and urine neurotransmitter concentrations (catecholamines and serotonin)
time frame: 12 months

Eligibility Criteria

Male or female participants at least 4 years old.

Inclusion Criteria: - Diagnosed with PKU - ability to provide informed consent (or have legal guardian who can provide informed consent) - at least 4 years of age - planning on trying BH4 treatment Exclusion Criteria: - Pregnant - unable to provide informed consent - less than 4 years of age - currently taking BH4

Additional Information

Official title Baseline Evaluation and Long-term Follow-up of Nutritional Status and Neurotransmitter Concentrations in Phenylketonuria Patients Initiating Treatment With Sapropterin Dihydrochloride (KuvanTM), a Tetrahydrobiopterin Analog.
Principal investigator Rani H Singh, PhD, RD
Description BACKGROUND : Tetrahydrobiopterin (BH4) is a treatment option newly available to phenylketonuria (PKU) patients within the United States as the pharmaceutical KuvanTM. This small molecule functions as a cofactor in multiple enzyme systems, including the metabolism of phenylalanine into tyrosine by the enzyme phenylalanine hydroxylase (PAH). HYPOTHESIS: We hypothesize that KuvanTM therapy could influence nutritional and body composition parameters and neurotransmitter concentrations in pediatric and adult PKU subjects. OBJECTIVES: 1. To record nutritional biomarkers, body composition, bone density, and measures of nutrient intake in a phenylketonuria subject group at baseline and for one year after start of KuvanTM therapy. 2. To investigate changes in monoamine neurotransmitter synthesis in a phenylketonuria subject group at baseline and for one year after start of KuvanTM therapy. 3. Evaluate changes in quality of life (QOL) for PKU subjects beginning KuvanTM therapy METHODOLOGY: We intend to enroll 60 PKU patients, ages 4 to adulthood, who are planning to begin BH4 treatment as prescribed by their medical provider. Patients will be given 4 weeks to demonstrate a response to KuvanTM as determined by a drop in plasma PHE by ≥15%. All patients, regardless of response to KuvanTM, will be allowed to continue in the study. All subjects will be followed for a full 12 months while monitoring nutrient intake, nutritional biomarkers, serotonin and catecholamine levels, and QOL. Two-tailed statistical analysis with α=0.05 will be used to compare results between responders and nonresponders, as well as compare follow-up values with baseline measures.
Trial information was received from ClinicalTrials.gov and was last updated in September 2009.
Information provided to ClinicalTrials.gov by Emory University.