Skip to main content
OpenTrials
Completed

NCT Number: NCT01917344

The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot 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. 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.

Completed

Looking for future studies?

Notify Me

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

18 year–55 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

  • Adult with classic PKU who has been seen at one of the hospitals collaborating in this study
  • Age 18-55 years
  • Medical Records available that include genotype and blood phenylalanine levels during the first 6 years of life. (We have over 300 patients with PKU with genotypes in our clinic, of whom about half are adults.)
  • Capable of providing informed consent
  • Able to undergo MRI procedures without sedating medication
  • Does not have metal implants
  • Not currently on Kuvan, Large Neutral Amino Acid therapy or involved in any clinical trials.

-

Exclusion criteria

  • Mild PKU or mild hyperphenylalaninemia
  • Less than 18 years old or great than 55 years old
  • No medical records available for the first 6 years of life
  • No record of genotype
  • Not capable of providing informed consent
  • Not able to undergo MRI without sedating medication
  • Has metal implants
  • Currently taking Kuvan, Large Neutral Amino Acid therapy or involved in any clinical trial

-

Treatment and study plan

MRI

Other

Primary outcomes

  1. 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.

Secondary outcomes

  1. Full Scale Intelligence Quotient (IQ)

    Time frame: During period of evaluation, approximately 8 hours

  2. Electroencephalogram (EEG) Findings

    Time frame: During period of evaluation, approximately 8 hours

  3. Volumetric MRI Findings

    Time frame: During period of evaluation, approximately 8 hours

  4. Diffusion Tensor Imaging (DTI) Findings Through MRI

    Time frame: During period of evaluation, approximately 8 hours

  5. Tremor as Determined Through Neurological Evaluation

    Time frame: During period of evaluation, approximately 8 hours

Sponsors and collaborators

Lead sponsor

Boston Children's Hospital

Other

Collaborators

  • Beth Israel Deaconess Medical Center
  • Brigham and Women's Hospital

Registry information

Important dates

Study start
2013
Primary completion
2014
Study completion
2014
First posted
Aug 6, 2013
Registry last updated
Jun 19, 2015

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.

Related clinical trials

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