N/A N=10 Diagnostic

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

Phenylketonuria

Bottom Line

View on ClinicalTrials.gov: NCT01917344 ↗

Enrolled (actual)

Serious AEs

0.0%

Results posted

Jun 2015

Primary outcome: Primary: Phenylalanine Level in the Brain as Determined by MR Spectroscopy and in Blood — 130; 137; 961 umol/L

Study Design & Population

Study type: Interventional
Phase: N/A
Interventions: MRI (Other)
Age: Adult · 18+ yrs
Sex: All
Sponsor: Boston Children's Hospital
Primary completion: Jun 2014

Outcome Measures

Outcome	Result	p-value
PRIMARY Phenylalanine Level in the Brain as Determined by MR Spectroscopy and in Blood	130; 137; 961	—
SECONDARY Full Scale Intelligence Quotient (IQ)	—	—
SECONDARY Electroencephalogram (EEG) Findings	—	—
SECONDARY Volumetric MRI Findings	—	—
SECONDARY Diffusion Tensor Imaging (DTI) Findings Through MRI	—	—
SECONDARY Tremor as Determined Through Neurological Evaluation	—	—

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

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

View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT01917344). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.