PKU Kuvan Imaging Study


Newborn screening and early treatment prevent the most severe manifestations of phenylketonuria (PKU). However, executive functioning deficits, attention deficit disorder, slow processing speed, and visual-motor problems commonly occur. Many adults with this disorder also suffer depression and anxiety. In this study the investigators will examine adults with PKU on sapropterin dihydrochloride (Kuvan) treatment for PKU and compare their results to those of subjects with PKU not on Kuvan. Using magnetic resonance imaging (MRI) techniques, including novel MR spectroscopy (MRS) the investigators hope to discover why this distinct constellation of deficits occurs in PKU. Adult subjects with PKU will undergo a comprehensive MRI evaluations, including a novel method of MR spectroscopy to determine brain phenylalanine levels. In addition, participants will receive neurological and neuropsychological examinations and dietary evaluation.

Study Start Date

April 2015

Estimated Completion Date

January 2017


No interventions cited


  • Pediatrics: Pediatric Radiology
  • Endocrinology: Metabolism and Growth,Peds Endocrinology
  • Radiology: Peds Radiology

MeSH Terms

  • Phenylketonurias

Study ID

Children's Hospital Boston -- IRB-P00015326



Trial ID


Study Type


Trial Phase


Enrollment Quota



Children's Hospital Boston

Inclusion Criteria

  • Adult with classic PKU currently on Kuvan treatment for at least one month.
  • Age 18-55 years
  • Medical Records available that include blood phenylalanine levels during the first 6 years of life.
  • Capable of providing informed consent
  • Able to undergo MRI procedures without sedating medication
  • Does not have metal implants, braces, or permanent retainers.

Exclusion Criteria

  • Mild PKU or mild hyperphenylalaninemia
  • Less than 18 years old or greater than 55 years old
  • No medical records available for the first 6 years of life
  • Not capable of providing informed consent
  • Not able to undergo MRI without sedating medication
  • Has metal implants, braces or permanent retainers
  • Currently involved in any clinical trial




18 Years to 55 Years

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Study Locations and Contact Information (1)

Study Location Distance Name Phone Email
Boston Childrens Hospital - Boston, Massachusetts 2.6 miles Vera Anastasoaie 617-355-7346 provides clinical trial listings in an easy to view format. All clinical trial information is pulled directly from This website does not guarantee acceptance into any clinical trial, and is not responsible for adverse events that may be incurred from a clinical trial.