Status:
COMPLETED
The Brain and Neuropsychological Functioning in Adults With Sapropterin Dihydrochloride Treated Phenylketonuria
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
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...
Detailed Description
Phenylketonuria (PKU, OMIM 261600), an autosomal recessive disorder, affects approximately 1:11,000 individuals in the United States. In PKU, mutations in the gene responsible for the liver enzyme phe...
Eligibility Criteria
Inclusion
- Adult with classic PKU currently on Kuvan treatment for at least one month.
- Age 18-55 years
- Medical Records available that include blood phenylalanine levels during the first 6 years of life.
- Capable of providing informed consent
- Able to undergo MRI procedures without sedating medication
- Does not have metal implants, braces, or permanent retainers.
Exclusion
- Mild PKU or mild hyperphenylalaninemia
- Less than 18 years old or greater than 55 years old
- No medical records available for the first 6 years of life
- Not capable of providing informed consent
- Not able to undergo MRI without sedating medication
- Has metal implants, braces or permanent retainers
- Currently involved in any clinical trial
Key Trial Info
Start Date :
April 1 2015
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
April 1 2017
Estimated Enrollment :
10 Patients enrolled
Trial Details
Trial ID
NCT02297347
Start Date
April 1 2015
End Date
April 1 2017
Last Update
February 5 2018
Active Locations (1)
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1
Boston Children's Hospital
Boston, Massachusetts, United States, 02115