We updated the design of this site on September 25th. Learn more.
Show more
ClinicalTrials.gov
ClinicalTrials.gov Menu

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

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01917344
First Posted: August 6, 2013
Last Update Posted: June 19, 2015
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Collaborators:
Beth Israel Deaconess Medical Center
Brigham and Women's Hospital
Information provided by (Responsible Party):
Susan Waisbren, Children's Hospital Boston
  Purpose
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.

Condition Intervention
Phenylketonuria Other: MRI

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study

Resource links provided by NLM:


Further study details as provided by Susan Waisbren, Children's Hospital Boston:

Primary Outcome Measures:
  • 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 Outcome Measures:
  • 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 ]

Enrollment: 10
Study Start Date: August 2013
Study Completion Date: June 2014
Primary Completion Date: June 2014 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Adults with PKU
MRI, EEG, neuropsychological testing, neurological examination, blood draw, diet diary, physical examination. These activities were performed for the study, but no drug or other interventions took place.
Other: MRI

  Eligibility

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   18 Years to 55 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  1. Adult with classic PKU who has been seen at one of the hospitals collaborating in this study
  2. Age 18-55 years
  3. 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.)
  4. Capable of providing informed consent
  5. Able to undergo MRI procedures without sedating medication
  6. Does not have metal implants
  7. Not currently on Kuvan, Large Neutral Amino Acid therapy or involved in any clinical trials.

Exclusion Criteria:

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

  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01917344


Locations
United States, Massachusetts
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Sponsors and Collaborators
Boston Children’s Hospital
Beth Israel Deaconess Medical Center
Brigham and Women's Hospital
Investigators
Principal Investigator: Susan E Waisbren, PhD Boston Children’s Hospital
  More Information

Responsible Party: Susan Waisbren, Susan Waisbren, P.h.D, Children's Hospital Boston
ClinicalTrials.gov Identifier: NCT01917344     History of Changes
Other Study ID Numbers: IRB-P00003864
First Submitted: August 5, 2013
First Posted: August 6, 2013
Results First Submitted: May 8, 2015
Results First Posted: June 19, 2015
Last Update Posted: June 19, 2015
Last Verified: June 2015

Keywords provided by Susan Waisbren, Children's Hospital Boston:
Phenylketonuria
MRI
Neuropsychological functioning
Neurological functioning
EEG

Additional relevant MeSH terms:
Phenylketonurias
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases