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

Phenylketonuria Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01917344
• Other study ID #: IRB-P00003864
• Status: Completed
• Phase: N/A
• First received: August 5, 2013
• Last updated: June 2, 2015
• Start date: August 2013
• Est. completion date: June 2014

Study information

• Verified date: June 2015
• Source: Children's Hospital Boston
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Institutional Review Board
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 10
• Est. completion date: June 2014
• Est. primary completion date: June 2014
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 18 Years to 55 Years

Eligibility

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

Study Design

Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Diagnostic

Related Conditions & MeSH terms

• Phenylketonuria
• Phenylketonurias

Intervention

Other:
• MRI

Locations

Country	Name	City	State
United States	Boston Children's Hospital	Boston	Massachusetts

Sponsors (3)

Lead Sponsor	Collaborator
Children's Hospital Boston	Beth Israel Deaconess Medical Center, Brigham and Women's Hospital

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	No
Secondary	Full Scale Intelligence Quotient (IQ)		During period of evaluation, approximately 8 hours	No
Secondary	Electroencephalogram (EEG) Findings		During period of evaluation, approximately 8 hours	No
Secondary	Volumetric MRI Findings		During period of evaluation, approximately 8 hours	No
Secondary	Diffusion Tensor Imaging (DTI) Findings Through MRI		During period of evaluation, approximately 8 hours	No
Secondary	Tremor as Determined Through Neurological Evaluation		During period of evaluation, approximately 8 hours	No