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

Primary Purpose

Phenylketonuria

Status
Completed
Phase
Not Applicable
Locations
United States
Study Type
Interventional
Intervention
MRI
Sponsored by
Boston Children's Hospital
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional diagnostic trial for Phenylketonuria focused on measuring Phenylketonuria, MRI, Neuropsychological functioning, Neurological functioning, EEG

Eligibility Criteria

18 Years - 55 Years (Adult)All SexesDoes not accept healthy volunteers

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

    -

Sites / Locations

  • Boston Children's Hospital

Arms of the Study

Arm 1

Arm Type

Other

Arm Label

Adults with PKU

Arm Description

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.

Outcomes

Primary Outcome Measures

Phenylalanine Level in the Brain as Determined by MR Spectroscopy and in Blood
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)
Electroencephalogram (EEG) Findings
Volumetric MRI Findings
Diffusion Tensor Imaging (DTI) Findings Through MRI
Tremor as Determined Through Neurological Evaluation

Full Information

First Posted
August 5, 2013
Last Updated
June 2, 2015
Sponsor
Boston Children's Hospital
Collaborators
Beth Israel Deaconess Medical Center, Brigham and Women's Hospital
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1. Study Identification

Unique Protocol Identification Number
NCT01917344
Brief Title
The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study
Official Title
The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study
Study Type
Interventional

2. Study Status

Record Verification Date
June 2015
Overall Recruitment Status
Completed
Study Start Date
August 2013 (undefined)
Primary Completion Date
June 2014 (Actual)
Study Completion Date
June 2014 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Principal Investigator
Name of the Sponsor
Boston Children's Hospital
Collaborators
Beth Israel Deaconess Medical Center, Brigham and Women's Hospital

4. Oversight

Data Monitoring Committee
No

5. Study Description

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Phenylketonuria
Keywords
Phenylketonuria, MRI, Neuropsychological functioning, Neurological functioning, EEG

7. Study Design

Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
10 (Actual)

8. Arms, Groups, and Interventions

Arm Title
Adults with PKU
Arm Type
Other
Arm Description
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.
Intervention Type
Other
Intervention Name(s)
MRI
Primary Outcome Measure Information:
Title
Phenylalanine Level in the Brain as Determined by MR Spectroscopy and in Blood
Description
Brain Phe levels (umol/L) using MRI correlated spectroscopy and Blood Phe levels (umol/L) obtained on the same day.
Time Frame
During period of evaluation, approximately 8 hours
Secondary Outcome Measure Information:
Title
Full Scale Intelligence Quotient (IQ)
Time Frame
During period of evaluation, approximately 8 hours
Title
Electroencephalogram (EEG) Findings
Time Frame
During period of evaluation, approximately 8 hours
Title
Volumetric MRI Findings
Time Frame
During period of evaluation, approximately 8 hours
Title
Diffusion Tensor Imaging (DTI) Findings Through MRI
Time Frame
During period of evaluation, approximately 8 hours
Title
Tremor as Determined Through Neurological Evaluation
Time Frame
During period of evaluation, approximately 8 hours

10. Eligibility

Sex
All
Minimum Age & Unit of Time
18 Years
Maximum Age & Unit of Time
55 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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 -
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Susan E Waisbren, PhD
Organizational Affiliation
Boston Children's Hospital
Official's Role
Principal Investigator
Facility Information:
Facility Name
Boston Children's Hospital
City
Boston
State/Province
Massachusetts
ZIP/Postal Code
02115
Country
United States

12. IPD Sharing Statement

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

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