NCT01917344

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
10

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Aug 2013

Shorter than P25 for not_applicable

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

August 1, 2013

Completed
4 days until next milestone

First Submitted

Initial submission to the registry

August 5, 2013

Completed
1 day until next milestone

First Posted

Study publicly available on registry

August 6, 2013

Completed
10 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 1, 2014

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

June 1, 2014

Completed
1 year until next milestone

Results Posted

Study results publicly available

June 19, 2015

Completed
Last Updated

June 19, 2015

Status Verified

June 1, 2015

Enrollment Period

10 months

First QC Date

August 5, 2013

Results QC Date

May 8, 2015

Last Update Submit

June 2, 2015

Conditions

Phenylketonuria

Keywords

PhenylketonuriaMRINeuropsychological functioningNeurological functioningEEG

Outcome Measures

Primary Outcomes (1)

  • 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.

    During period of evaluation, approximately 8 hours

Secondary Outcomes (5)

  • Full Scale Intelligence Quotient (IQ)

    During period of evaluation, approximately 8 hours

  • Electroencephalogram (EEG) Findings

    During period of evaluation, approximately 8 hours

  • Volumetric MRI Findings

    During period of evaluation, approximately 8 hours

  • Diffusion Tensor Imaging (DTI) Findings Through MRI

    During period of evaluation, approximately 8 hours

  • Tremor as Determined Through Neurological Evaluation

    During period of evaluation, approximately 8 hours

Study Arms (1)

Adults with PKU

OTHER

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

Interventions

MRIOTHER
Adults with PKU

Eligibility Criteria

Age18 Years - 55 Years
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64)

You may qualify if:

  • 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.

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Location

MeSH Terms

Conditions

Phenylketonurias

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesAmino Acid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic Diseases

Results Point of Contact

Title
Susan Waisbren, P.h.D
Organization
Boston Children's Hospital
susan.waisbren@childrens.harvard.edu
617-355-7346

Study Officials

  • Susan E Waisbren, PhD

    Boston Children's Hospital

    PRINCIPAL INVESTIGATOR

Publication Agreements

PI is Sponsor Employee
Yes

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
DIAGNOSTIC
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Susan Waisbren, P.h.D

Study Record Dates

First Submitted

August 5, 2013

First Posted

August 6, 2013

Study Start

August 1, 2013

Primary Completion

June 1, 2014

Study Completion

June 1, 2014

Last Updated

June 19, 2015

Results First Posted

June 19, 2015

Record last verified: 2015-06

Locations

US(1)