Nutritional and Neurotransmitter Changes in PKU Subjects on BH4
Status:
Completed
Trial end date:
2010-10-01
Target enrollment:
Participant gender:
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
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, 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.
Details
Lead Sponsor:
Emory University
Collaborators:
Atlanta Clinical and Translational Science Institute BioMarin Pharmaceutical