Clinical Trial: The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional

Official Title: The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study

Brief Summary: 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. Using advanced electroencephalogram (EEG) and magnetic resonance imaging (MRI) techniques, including novel MR spectroscopy (MRS) we hope to discover why this distinct constellation of deficits occurs in PKU. Adult subjects with PKU will undergo EEG and comprehensive MRI evaluations, including a novel method of MR spectroscopy to determine brain phenylalanine levels. In addition, they will receive neurological and neuropsychological examinations and dietary evaluation.

Detailed Summary:
Sponsor: Boston Children’s Hospital

Current Primary Outcome: Phenylalanine Level in the Brain as Determined by MR Spectroscopy and in Blood [ Time Frame: During period of evaluation, approximately 8 hours ]

Brain Phe levels (umol/L) using MRI correlated spectroscopy and Blood Phe levels (umol/L) obtained on the same day.


Original Primary Outcome: phenylalanine level in the brain as deterimined by MR Spectroscopy [ Time Frame: one time only ]

Current Secondary Outcome:

  • Full Scale Intelligence Quotient (IQ) [ Time Frame: During period of evaluation, approximately 8 hours ]
  • Electroencephalogram (EEG) Findings [ Time Frame: During period of evaluation, approximately 8 hours ]
  • Volumetric MRI Findings [ Time Frame: During period of evaluation, approximately 8 hours ]
  • Diffusion Tensor Imaging (DTI) Findings Through MRI [ Time Frame: During period of evaluation, approximately 8 hours ]
  • Tremor as Determined Through Neurological Evaluation [ Time Frame: During period of evaluation, approximately 8 hours ]


Original Secondary Outcome:

  • Full scale inteligence quotient (IQ) [ Time Frame: One time ]
  • Electroencephalogram (EEG) Findings [ Time Frame: One time ]
  • Volumetric MRI Findings [ Time Frame: One time ]
  • Diffiusion tensor imaging (DTI) findings through MRI [ Time Frame: One time ]
  • Tremor as Determined Through Neurological Evaluation [ Time Frame: One time ]


Information By: Boston Children’s Hospital

Dates:
Date Received: August 5, 2013
Date Started: August 2013
Date Completion:
Last Updated: June 2, 2015
Last Verified: June 2015