The Brain and Neuropsychological Functioning in Adults With Sapropterin Dihydrochloride Treated Phenylketonuria

Completed

Conditions studied: Phenylketonuria

In brief

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. In this study the investigators will examine adults with PKU on sapropterin dihydrochloride (Kuvan) treatment for PKU and compare their results to those of subjects with PKU not on Kuvan. Using magnetic resonance imaging (MRI) techniques, including novel MR spectroscopy (MRS) the investigators hope to discover why this distinct constellation of deficits occurs in PKU. Adult subjects with PKU will undergo a comprehensive MRI evaluations, including a novel method of MR spectroscopy to determine brain phenylalanine levels. In addition, participants will receive neurological and neuropsychological examinations and dietary evaluation.

Key facts

Study ID

NCT02297347

Run by

Boston Children's Hospital

People needed

10

Starts

2015-04-01

Expected to finish

2017-04-01

Last updated by the study team

2018-02-05

Who can join

Age: 18 and older, up to 55. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• 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.

You may not qualify if…

• 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

Where it is running

• Boston Children's Hospital — Boston, Massachusetts, United States

Full record on ClinicalTrials.gov

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