Table 20Summary of additional Kuvan postmarketing studies

Study Description (Country/ID/Design/Date/Sponsor)Intervention/Study Population (Disease Type/Age/Estimated Enrollment)Outcomes
Efficacy and Effect of BH4
Denmark, Norway
NCT01082328
EudraCT # 2009-018168-81
Nonrandomized open label
NR
Merck KGaA / Merck Serono Norway
Evaluate efficacy of BH4
PKU
≥ 4 years
N=150
Blood Phe level
United StatesNCT00841100
Nonrandomized open label
12/2008-02/2010
University of Miami
Evaluate effect of BH4
PKU
≥ 4 years
N=20
Blood Phe level
Identifying BH4-Responsive Individuals
Austria
EudraCT # 2010-019767-11
NR
NR
Graz Medical University
Evaluate a test to identify BH4-responsive individuals
PKU
4-18 years
N=30
Blood Phe level
Amino Acids and Fatty Acids Effects
Spain
EudraCT # 2008-005394-35
ISRCTN77098312
Controlled, open label
03/2009-NR
Aragon Institute of Health Sciences
Evaluate effect of BH4 on amino acids and fatty acids patterns
PKU
NR
N=30
Amino acids, fatty acids levels
Cognitive Effects
United StatesNCT01274026
Nonrandomized open label
01/2011-01/2012
Tulane University School of Medicine
Evaluate BH4 on executive function and behavior
PKU
2-21 years
N=30
Blood Phe level, executive function
United StatesNCT00730080
Prospective case control
07/2008-07/2009
Washington University School of Medicine (collaborating with BioMarin and University of Missouri-Columbia)
Evaluate BH4 effect on cognition
PKU
≥6 years
N=35
Wechsler Abbreviated Scale of Intelligence, various working memory and strategic processing tests
Behavioral Effects
Canada, United States
NCT01114737
Randomized controlled trial
06/2010-12/2011
BioMarin
Evaluate effect of BH4 compared with placebo on ADHD symptoms
PKU
≥12 years
N=200
Blood Phe level, ADHD symptoms
United StatesNCT00827762
Prospective case series
01/2009-01/2010
Washington University School of Medicine (collaborating with BioMarin and University of Missouri-Columbia Northwestern University, and Oregon Health and Science University)
Evaluate BH4 effect on behavior
PKU
6-18 years
N=20
Various behavioral assessments
United States
NCT00728676
Prospective case control
08/2008-2/2010
University of Southern California (collaborating with BioMarin)
Evaluate BH4 effect on behavior
PKU
NR
N=13
Vineland scale standard scores, Phe level
Brain Effects
United StatesNCT00986973
Single blind
03/2010-09/2011
Children's Hospital of Philadelphia
Evaluate BH4 on glucose metabolism in the brain
PKU
≥18 years
N=5
Brain PET scan, Phe level
United StatesNCT00964236
Prospective case control
08/2009-08/2011
University of Missouri, Columbia (collaborating with BioMarin)
Evaluate BH4 effect on brain connectivity
PKU
≥6 years
N=20
Magnetic resonance imaging
United StatesNCT00688844
Prospective cohort
08/2008-02/2010
Emory University (collaborating with BioMarin and the Clinical Interaction Network of the Atlanta Clinical and Translational Science Institute)
Evaluate BH4 effect on neurotransmitter concentrations
PKU
≥4 years
N=62
Various biochemical analysis tests

ADHD = attention deficit hyperactivity disorder; N = number; PET = positron emission tomography; Phe = phenylalanine; PKU = phenylketonuria

From: Results

Cover of Adjuvant Treatment for Phenylketonuria (PKU)
Adjuvant Treatment for Phenylketonuria (PKU) [Internet].
Comparative Effectiveness Reviews, No. 56.
Lindegren ML, Krishnaswami S, Fonnesbeck C, et al.

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