Ignite Creation Date:
2024-05-05 @ 7:30 PM
Last Modification Date:
2024-10-26 @ 9:50 AM
Study NCT ID:
NCT00688844
Status:
COMPLETED
Last Update Posted:
2015-06-08
First Post:
2008-05-29
Brief Title:
Nutritional and Neurotransmitter Changes in PKU Subjects on BH4
Sponsor:
Emory University
Organization:
Emory University
Study Overview
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
Status:
COMPLETED
Status Verified Date:
2015-05
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
BH4PKU
Brief Summary:
HYPOTHESIS The investigators hypothesize that KuvanTM therapy could influence nutritional and body composition parameters and neurotransmitter concentrations in pediatric and adult PKU subjects
SUMMARY Though the investigators know that KuvanTM lowers blood Phe levels and improves tolerance for natural protein in at least half of the PKU Phenylketonuria patient population investigators do not know the full effects this medicine will have on the patients 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 investigators 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 the 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
SUMMARY Though the investigators know that KuvanTM lowers blood Phe levels and improves tolerance for natural protein in at least half of the PKU Phenylketonuria patient population investigators do not know the full effects this medicine will have on the patients 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 investigators 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 the 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
Detailed 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 The investigators 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 Investigators 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 α005 will be used to compare results between responders and nonresponders as well as compare follow-up values with baseline measures
HYPOTHESIS The investigators 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 Investigators 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 α005 will be used to compare results between responders and nonresponders as well as compare follow-up values with baseline measures
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None