Clinical trial NCT01917344: 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
Overall status: COMPLETED
Phase: NA
Conditions: Phenylketonuria
Keywords: Phenylketonuria
MRI
Neuropsychological functioning
Neurological functioning
EEG
Lead sponsor: Boston Children's Hospital
Sponsor class: OTHER
Collaborators: name: Beth Israel Deaconess Medical Center
name: Brigham and Women's Hospital
First posted: 2013-08-06
Enrollment: 10
Sex: ALL
Minimum age (years): 18
Maximum age (years): 55
Standard ages: ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: DIAGNOSTIC

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.


Eligibility 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.

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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

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Primary outcomes:
measure: Phenylalanine Level in the Brain as Determined by MR Spectroscopy and in Blood
timeFrame: During period of evaluation, approximately 8 hours
Secondary outcomes:
measure: Full Scale Intelligence Quotient (IQ)
timeFrame: During period of evaluation, approximately 8 hours
measure: Electroencephalogram (EEG) Findings
timeFrame: During period of evaluation, approximately 8 hours
measure: Volumetric MRI Findings
timeFrame: During period of evaluation, approximately 8 hours
measure: Diffusion Tensor Imaging (DTI) Findings Through MRI
timeFrame: During period of evaluation, approximately 8 hours
measure: Tremor as Determined Through Neurological Evaluation
timeFrame: During period of evaluation, approximately 8 hours
Other outcomes:
Locations:
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
Study officials:
affiliation: Boston Children's Hospital
name: Susan E Waisbren, PhD
role: PRINCIPAL_INVESTIGATOR
References: