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

Withdrawn before enrolling · Not applicable

Conditions studied: PKU

In brief

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).

Key facts

Study ID

NCT01412437

Run by

Children's National Research Institute

People needed

0

Starts

2011-04-01

Expected to finish

2012-12-01

Last updated by the study team

2014-12-17

Who can join

Age: 18 and older, up to 40. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Patients with PKU identified on Newborn screening and with phe concentration >12mg/dl on the newborn screen
• Baseline phe level at study enrollment > 20 mg/dl (this is the level required for inclusion in the study, regardless of the level used to make diagnosis)
• Age range: 18-45 years
• Able to comply with neuroimaging without requiring sedation (typically requires IQ over 65). The IQ will be checked with the WASI (Weschler Adult scales of intelligence) before determining eligibility
• Able to undergo neuroimaging safely (i.e. without presence of ferromagnetic devices)
• Subject has ability to follow instructions in English
• Female of childbearing age who is sexually active agrees to urine pregnancy test
• Availability to come to Washington, DC to participate in this study

You may not qualify if…

• Age range <18 or >45 years
• Inability to comply with neuroimaging without the use of sedation (low IQ or claustrophobic)
• Presence of ferromagnetic device(s) that preclude safe imaging including cardiac pacemaker, neural pacemaker, surgical clips in the brain or blood vessels, surgically implanted metal plates, screws or pins, cochlear implants or metal objects in their body
• Pregnant female or breastfeeding at screening or planning to become pregnant at any time during the study.
• Baseline phe < 20 mg/dl
• Currently on Kuvan
• History of substance abuse

Where it is running

• Children's Research Institute — Washington D.C., District of Columbia, United States

Full record on ClinicalTrials.gov

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