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

This study is currently recruiting participants.
Verified January 2014 by Children's Hospital Boston
Sponsor:
Collaborators:
Beth Israel Deaconess Medical Center
Brigham and Women's Hospital
Information provided by (Responsible Party):
Children's Hospital Boston
ClinicalTrials.gov Identifier:
NCT01917344
First received: August 5, 2013
Last updated: January 17, 2014
Last verified: January 2014
  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: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
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 Children's Hospital Boston:

Primary Outcome Measures:
  • phenylalanine level in the brain as determined by MR Spectroscopy [ Time Frame: one time only ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Full scale intelligence quotient (IQ) [ Time Frame: One time ] [ Designated as safety issue: No ]
  • Electroencephalogram (EEG) findings [ Time Frame: One time ] [ Designated as safety issue: No ]
  • Volumetric MRI findings [ Time Frame: One time ] [ Designated as safety issue: No ]
  • Diffusion tensor imaging (DTI) findings through MRI [ Time Frame: One time ] [ Designated as safety issue: No ]
  • Tremor as determined through neurological evaluation [ Time Frame: One time ] [ Designated as safety issue: No ]

Estimated Enrollment: 12
Study Start Date: August 2013
Estimated Primary Completion Date: April 2014 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Adults with PKU
MRI, EEG, neuropsychological testing, neurological examination, blood draw, diet diary, physical examination
Other: MRI

  Eligibility

Ages Eligible for Study:   18 Years to 55 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Male and Female adults with PKU

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
Please refer to this study by its ClinicalTrials.gov identifier: NCT01917344

Contacts
Contact: Vera Anastasoaie 617 355-7346 vera.anastasoaie@childrens.harvard.edu

Locations
United States, Massachusetts
Boston Children's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Vera Anastasoaie    617-355-7346    vera.anastasoaie@childrens.harvard.edu   
Principal Investigator: Susan E Waisbren, PhD         
Sponsors and Collaborators
Children's Hospital Boston
Beth Israel Deaconess Medical Center
Brigham and Women's Hospital
Investigators
Principal Investigator: Susan E Waisbren, PhD Boston Children's Hospital
  More Information

No publications provided

Responsible Party: Children's Hospital Boston
ClinicalTrials.gov Identifier: NCT01917344     History of Changes
Other Study ID Numbers: IRB-P00003864
Study First Received: August 5, 2013
Last Updated: January 17, 2014
Health Authority: United States: Institutional Review Board

Keywords provided by 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

ClinicalTrials.gov processed this record on April 14, 2014