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

June 2, 2015 updated by: Susan Waisbren, Boston Children's Hospital
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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Actual)

10

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Boston Children's Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 55 years (ADULT)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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

    -

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: DIAGNOSTIC
  • Allocation: NA
  • Interventional Model: SINGLE_GROUP
  • Masking: NONE

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
OTHER: 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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
During period of evaluation, approximately 8 hours

Secondary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Boston Children's Hospital

Collaborators

Beth Israel Deaconess Medical Center
Brigham and Women's Hospital

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

August 1, 2013

Primary Completion (ACTUAL)

June 1, 2014

Study Completion (ACTUAL)

June 1, 2014

Study Registration Dates

First Submitted

August 5, 2013

First Submitted That Met QC Criteria

August 5, 2013

First Posted (ESTIMATE)

August 6, 2013

Study Record Updates

Last Update Posted (ESTIMATE)

June 19, 2015

Last Update Submitted That Met QC Criteria

June 2, 2015

Last Verified

June 1, 2015

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • IRB-P00003864

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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