Nutritional and Neurotransmitter Changes in PKU Subjects on BH4 (BH4&PKU)
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Purpose
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.
| Condition |
|---|
|
Phenylketonuria |
| Study Type: | Observational |
| Study Design: | Observational Model: Cohort Time Perspective: Prospective |
| 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. |
- Changes in body composition: fat mass, lean mass, bone density, anthropometrics [ Time Frame: 12 months ] [ Designated as safety issue: No ]
- Nutritional status: Changes in blood nutrition markers, macronutrient intake and micronutrient intake [ Time Frame: 12 months ] [ Designated as safety issue: No ]
- Changes in blood and urine neurotransmitter concentrations (catecholamines and serotonin) [ Time Frame: 12 months ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples With DNA
Blood plasma Blood platelets Whole blood Urine
| Enrollment: | 62 |
| Study Start Date: | October 2008 |
| Estimated Study Completion Date: | February 2010 |
| Estimated Primary Completion Date: | February 2010 (Final data collection date for primary outcome measure) |
| Groups/Cohorts |
|---|
|
1
PKU subjects starting KuvanTM therapy.
|
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: We hypothesize that KuvanTM therapy could influence nutritional and body composition parameters and neurotransmitter concentrations in pediatric and adult PKU subjects.
OBJECTIVES:
- 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.
- To investigate changes in monoamine neurotransmitter synthesis in a phenylketonuria subject group at baseline and for one year after start of KuvanTM therapy.
- 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.
Eligibility| Ages Eligible for Study: | 4 Years and older |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | Yes |
| Sampling Method: | Non-Probability Sample |
Phenylketonuria (PKU) subjects ages 4 through adulthood who plan to start BH4 therapy but are not currently on BH4.
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
Contacts and Locations| United States, Georgia | |
| Emory Hospital, CIN/ACTSI | |
| Atlanta, Georgia, United States, 30322 | |
| Emory University Genetics Clinic | |
| Decatur, Georgia, United States, 30033 | |
| Principal Investigator: | Rani H Singh, PhD, RD | Emory University Department of Human Genetics |
More Information
Additional Information:
No publications provided
| Responsible Party: | Rani H. Singh, PhD, RD, Emory University Department of Human Genetics |
| ClinicalTrials.gov Identifier: | NCT00688844 History of Changes |
| Other Study ID Numbers: | IRB-7828 |
| Study First Received: | May 29, 2008 |
| Last Updated: | September 24, 2009 |
| Health Authority: | United States: Institutional Review Board |
Keywords provided by Emory University:
|
PKU Phenylketonuria BH4 Kuvan Tetrahydrobiopterin Sapropterin Dihydrochloride Nutrition PHE Phenylalanine |
PAH Phenylalanine hydroxylase Neurotransmitters Serotonin Catecholamines Diet Body Fat Bone Density |
Additional relevant MeSH terms:
|
Phenylketonurias Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases Amino Acid Metabolism, Inborn Errors |
Metabolism, Inborn Errors Genetic Diseases, Inborn Metabolic Diseases Neurotransmitter Agents Molecular Mechanisms of Pharmacological Action Pharmacologic Actions Physiological Effects of Drugs |
ClinicalTrials.gov processed this record on May 16, 2013