Banerjee P, Grange DK, Steiner RD, White DA Executive strategic processing during verbal fluency performance in children with phenylketonuria. Child Neuropsychol. 2011;17(2):105-17. doi: 10.1080/09297049.2010.525502. Epub 2010 Dec 7.
Bodner KE, Aldridge K, Moffitt AJ, Peck D, White DA, Christ SE A volumetric study of basal ganglia structures in individuals with early-treated phenylketonuria. Mol Genet Metab. 2012 Nov;107(3):302-7. doi: 10.1016/j.ymgme.2012.08.007. Epub 2012 Aug 18.
Christ SE, Huijbregts SC, de Sonneville LM, White DA Executive function in early-treated phenylketonuria: profile and underlying mechanisms. Mol Genet Metab. 2010;99 Suppl 1:S22-32. doi: 10.1016/j.ymgme.2009.10.007. Review.
Janos AL, Grange DK, Steiner RD, White DA Processing speed and executive abilities in children with phenylketonuria. Neuropsychology. 2012 Nov;26(6):735-43. doi: 10.1037/a0029419. Epub 2012 Aug 6.
Peng H, Peck D, White DA, Christ SE Tract-based evaluation of white matter damage in individuals with early-treated phenylketonuria. J Inherit Metab Dis. 2014 Mar;37(2):237-43. doi: 10.1007/s10545-013-9650-y. Epub 2013 Sep 17.
White DA, Nortz MJ, Mandernach T, Huntington K, Steiner RD Deficits in memory strategy use related to prefrontal dysfunction during early development: evidence from children with phenylketonuria. Neuropsychology. 2001 Apr;15(2):221-9.
Effects of Sapropterin on Brain and Cognition in Individuals With Phenylketonuria
Interventional studies are often prospective and are specifically tailored to evaluate direct impacts of treatment or preventive measures on disease.
Observational studies are often retrospective and are used to assess potential causation in exposure-outcome relationships and therefore influence preventive methods.
Expanded access is a means by which manufacturers make investigational new drugs available, under certain circumstances, to treat a patient(s) with a serious disease or condition who cannot participate in a controlled clinical trial.
Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.
Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.
