Neuroimaging and Neurocognitive Assessment and Response to Sapropterin Dihydrochloride Treatment in Phenylketonuria

Summary

The investigators will use different types of brain imaging (MRI) in patients with Phenylketonuria (PKU) who are currently not on a strict diet to test the hypothesis that there is improvement in brain circuitry and biochemistry after return to diet and/or sapropterin dihydrochloride (Kuvan).

Timeline

Start

2011-04

Primary completion

2012-03

Completion

2012-12

Outcome

Outcome not reported

Stopped (Enrollment): “poor recruitment”

Publications

• Background Christ SE, Moffitt AJ, Peck D. Disruption of prefrontal function and connectivity in individuals with phenylketonuria. Mol Genet Metab. 2010;99 Suppl 1:S33-40. doi: 10.1016/j.ymgme.2009.09.014.

Drugs

Indications