Nutritional and Neurotransmitter Changes in PKU Subjects on BH4

Completed

Conditions studied: Phenylketonuria

In brief

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.

Key facts

Study ID

NCT00688844

Run by

Emory University

People needed

58

Starts

2008-10-01

Expected to finish

2010-10-01

Last updated by the study team

2015-06-08

Who can join

Age: 4 and older. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• 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

You may not qualify if…

• Pregnant
• unable to provide informed consent
• less than 4 years of age
• currently taking BH4

Where it is running

• Emory Hospital, CIN/ACTSI — Atlanta, Georgia, United States
• Emory University Genetics Clinic — Decatur, Georgia, United States

Full record on ClinicalTrials.gov

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