Status:
COMPLETED
The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study
Lead Sponsor:
Boston Children's Hospital
Collaborating Sponsors:
Beth Israel Deaconess Medical Center
Brigham and Women's Hospital
Conditions:
Phenylketonuria
Eligibility:
All Genders
18-55 years
Phase:
NA
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 v...
Eligibility Criteria
Inclusion
- 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
- 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
- \-
Key Trial Info
Start Date :
August 1 2013
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
June 1 2014
Estimated Enrollment :
10 Patients enrolled
Trial Details
Trial ID
NCT01917344
Start Date
August 1 2013
End Date
June 1 2014
Last Update
June 19 2015
Active Locations (1)
Enter a location and click search to find clinical trials sorted by distance.
1
Boston Children's Hospital
Boston, Massachusetts, United States, 02115