Clinical Trial: Phenylketonuria, Oxidative Stress, and BH4

Study Status: Terminated
Recruit Status: Terminated
Study Type: Interventional

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

Brief 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 Summary:

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.

Sponsor: Emory University

Current Primary Outcome:

  • Lipid Peroxidation [ Time Frame: Lipid peroxidation will be measured every other hour for six hours at baseline (study visit 1) for all study groups ]
    Markers will be assessed every other hour for each 6-hour study visit. Kuvan responders and healthy controls will only be assessed at one 6-hour study visit. Kuvan non-responders will be assessed at two study visits (a baseline visit, and a visit after two weeks of Kuvan therapy). Values will be assessed groupwise and also assessed for intrapersonal change in the Kuvan non-responsive group. Time frame of participation is estimated at one month.
  • C-Reactive Protein (CRP) [ Time Frame: CRP will be measured every other hour for six hours at baseline (study visit 1) for all study groups and again during a second visit 2 weeks after baseline in BH4 Non-Responders only (study visit 2) ]
    Markers will be assessed every other hour for each 6-hour study visit. Kuvan responders and healthy controls will only be assessed at one 6-hour study visit. Kuvan non-responders will be assessed at two study visits (a baseline visit, and a visit after two weeks of Kuvan therapy). Values will be assessed groupwise and also assessed for intrapersonal change in the Kuvan non-responsive group. Time frame of participation is estimated at one month.


Original Primary Outcome: Lipid Peroxidation [ Time Frame: Lipid peroxidation will be measured every other hour for six hours at each study visit ]

Markers will be assessed every other hour for each 6-hour study visit. Kuvan responders and healthy controls will only be assessed at one 6-hour study visit. Kuvan non-responders will be assessed at two study visits (a baseline visit, and a visit after two weeks of Kuvan therapy). Values will be assessed groupwise and also assessed for intrapersonal change in the Kuvan non-responsive group. Time frame of participation is estimated at one month.


Current Secondary Outcome:

Original Secondary Outcome:

Information By: Emory University

Dates:
Date Received: June 23, 2011
Date Started: June 2011
Date Completion:
Last Updated: August 27, 2014
Last Verified: August 2014