Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response

The investigators will investigate the effect of blood phenylalanine on Kuvan responsiveness in the same patients with PKU when their blood phenylalanine concentrations are altered by diet.

Lowering blood phenylalanine concentrations in Kuvan non-responsive patients with PKU will increase the frequency of Kuvan responsiveness.

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Key information

Conditions

Phenylketonuria Amino Acid Metabolism, Inborn Errors Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Phenylketonurias

Age range

4 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 2

Primary location

Department of Biochemistry & Molecular Biology

Miami, Florida, 33136, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

all patients with a diagnosis of phenylketonuria
patients who are over the age of 4 years,
patients with a fasting blood phenylalanine ≥600µmol/l

Exclusion criteria

female patients who are pregnant or attempting to become pregnant
children under four years of age
Concurrent disease of condition that would interfere with study participation or safety such as history of neurological compromise or major medical, psychiatric or learning disorder unrelated to PKU
Any condition that, in the view of the Investigators, places subject at high risk of poor treatment compliance or of not completing the study
Use of L-Dopa, methotrexate, or other drugs that may inhibit folate metabolism

Treatment and study plan

KUVAN

Drug

20mg/kg by mouth once daily

Other names: sapropterin dihydrochloride, Tetrahydrobiopterin (BH4)

Diet

Other

Phenylalanine-restricted diet (4-10 mg/kg/day phenylalanine) using the prescribed phenylalanine-free medical formula and low protein foods tested with the patients for taste and acceptance to lower blood phenylalanine levels below 600 umol/l.

Primary outcomes

Percent Change in Blood Phenylalanine

Time frame: Baseline to Day 1 of the Acute Phase, Baseline to Day 28 of Phase 1, Baseline to Day 28 of Phase 3

Percent change in phenylalanine in (uM) on Kuvan Response evaluated via fasting morning blood serum. A decrease of 30% or greater indicates positive response on Kuvan.

Sponsors and collaborators

Lead sponsor

University of Miami

Other

Registry information

Important dates

Study start: 2008
Primary completion: 2011
Study completion: 2011
First posted: Feb 11, 2009
Registry last updated: Dec 3, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed