NCT01395394

Phenylketonuria, Oxidative Stress, and BH4

The Ability of Kuvan® (Sapropterin Dihydrochloride) to Prevent Meal-induced Lipid Peroxidation and Endothelial Dysfunction in Patients With Phenylketonuria: a Pilot Study

• Status: Terminated
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 12 (actual)
• Sponsor: Emory University · Academic / Other
• Sex: All
• Age: 10 Years – 45 Years
• Healthy volunteers: Accepted

Summary

The purpose of this study is to see how tetrahydrobiopterin therapy (BH4; also known as sapropterin dihydrochloride or Kuvan) affects measures of oxidative stress and endothelial function in patients with Phenylketonuria (PKU).

Detailed description

Oxidative stress will be induced by having participants eat a meal in polyunsaturated fats. The investigators will see how participants respond to the meal challenge over the course of 6 hours. * PKU participants who are currently on BH4 therapy will be evaluated while taking BH4 with the meal at a single study visit. * PKU participants who did not responded to BH4 therapy will be evaluated twice. At the first study visit the investigators will see how you react to the meal challenge when you are not given BH4. You will be given BH4 for two weeks, then return for a second meal challenge study visit while taking BH4. * Healthy controls will be evaluated after consuming the meal only (no BH4) at a single study visit.

Conditions

• Phenylketonuria

Interventions

Type	Name	Description
DRUG	Kuvan	Participants in the BH4 Non-Responder group will be given a 20 mg/kg body weight/day dose of Kuvan to take on a daily basis for two weeks. The last dose will be administered at the participant's study visit 2.
OTHER	Meal Challenge	At each study visit, patients will receive a meal high in polyunsaturated fats that will promote a transitory increase in oxidative stress measures and endothelial dysfunction

Timeline

• Start date: 2011-06-01
• Primary completion: 2013-06-01
• Completion: 2013-06-01
• First posted: 2011-07-15
• Last updated: 2014-08-28
• Results posted: 2014-08-28

Locations

1 site across 1 country: United States