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

NCT01917344 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 10

Last updated 2015-06-19

Study results available
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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.

Conditions

Interventions

OTHER

MRI

Sponsors & Collaborators

Principal Investigators

  • Susan E Waisbren, PhD · Boston Children's Hospital

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Max Age
55 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2013-08-31
Primary Completion
2014-06-30
Completion
2014-06-30

Countries

  • United States

Study Locations

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Entities

Diseases
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01917344 on ClinicalTrials.gov